Genetic Counselling for Psychiatric Conditions: exploring current perceptions of family physicians and psychiatrist in Portugal

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This study provides a pioneering exploration of family physicians and psychiatrists’ perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients’ care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country. psychiatric genetic counselling healthcare provision qualitative research Figures Figure 1 Introduction Genomic medicine is increasingly relevant across many areas of medicine, and clinical services evolved to assist individuals dealing with complex conditions for which genetic testing became available. Genetic counselling (GC) emerged as a specialist healthcare discipline in the 1960s and, since then, we can recognize its growth and its worldwide dissemination (Ormond et al., 2018 ). Different sub-specialties within this discipline begun to emerge, namely and more recently, psychiatric genetic counselling (PGC). Genetic counselling is, by definition, “a process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease” (Resta et al., 2006 ). GC entails holistic discussion covering both genetic and environmental factors contributing to conditions, and it aims to empower individuals to make informed, autonomous decisions that resonate with their values (Austin, 2023 ). Over the years, in the context of various conditions, research has consistently demonstrated that GC is effective when it comes to increasing patient knowledge, empowerment and autonomy in decision-making, decreasing stigma and generating high patient satisfaction, among others (Ison et al., 2019 ; Madlensky et al., 2017 ). According to the American Psychiatric Association, a psychiatric disorder (PD) is “a syndrome characterized by clinically significant disturbance in an individual’s cognition, emotion regulation, or behaviour that reflects a dysfunction in the psychological, biological, or developmental processes underlying mental functioning” (American Psychiatric Association, 2013 ). PDs have complex etiopathogenetic mechanisms where both genetic predisposition and environmental factors contribute to the risk and expression of these conditions. The field of psychiatric genetics is dynamic, with ongoing research aimed at unravelling the intricate genetic and environmental factors contributing to mental health disorders (Hoehe & Morris-Rosendahl, 2018 ; Keverne & Binder, 2020 ; Müller, 2020 ; Murray et al., 2021 ). The genetic architecture of PDs is highly polygenic and includes the full spectrum of DNA variation (Gratten et al., 2014 ; Smoller, 2019 ; Wand et al., 2023 ). Understanding the multifactorial nature of PDs is crucial for researchers, clinicians, individuals affected by these conditions and their family. PDs are highly prevalent, and they impact the lives of millions of people worldwide. In Portugal, the prevalence of lifetime mental disorders is above 30%, mental health disorders represent 11.7% of disease-adjusted life years lost; Portugal experiences a high prevalence of depression (7.9%), anxiety (16.5%), impulse disorders (3.5%), and substance abuse (1.6%) in comparison with other European countries (Almeida et al., 2013 ). Although significant prevalent, this historically undervalued community is still poorly served and there is a need to reinforce coordination between Primary Health Care and hospital care in mental health (Entidade Reguladora da Saúde, 2023 ; Magalhães et al., 2016 ). In Portugal, mental health care can be provided inpatient or outpatient, in the latter case in consultations, day hospitals and psychosocial rehabilitation structures. This care is provided by public, private and social entities, with agreements with the National Health System. Psychiatrists and family physicians are the primary referral points for people with PDs, whom they mainly rely on for referrals to secondary and tertiary care as needed, including to medical genetic services. In Portugal, GC is considered a medical act, but generally entrusted to specialists in Medical Genetics (Paneque et al., 2015 ). Portugal has five government-funded medical genetics hospital centres integrated into the National Health System (Ordem dos Médicos, 2021 ). Any medical doctor can refer a patient or family to the nearest medical genetics service; in addition, relatives of registered patients can request an appointment. Some private centres and general hospitals also provide genetic testing for various diseases along with GC services (Paneque et al., 2015 ). Genetic counselors are not yet recognized as professionals by the competent national authorities (Lungu et al., 2024 ). There is an urgent need to increase the number of medical geneticists, non-medical genetic professionals and other health care professionals, aiming for a multidisciplinary and user-centred approach in the public genetic services that are currently saturated and limited in resources (Costa et al., 2022 ; Costa, Guimarães, et al., 2024 ; INSA, 2022 ; Mendes et al., 2013 ; Paneque et al., 2018 ). PGC is an emerging field conceptually identical to GC but more psychotherapeutically focused, seeking to help patients make personal meaning of the factors that can contribute to the development of a mental health condition that they have or that runs in their family (Austin, 2020 ; Moldovan et al., 2019 ). PGC practitioners view their work through the lens of valuing the interaction as primarily existential rather than solely focused on risk specific. They prioritize addressing emotional issues that arise during these discussions. Within PGC, it is emphasized the importance of addressing misconceptions about aetiology, promoting self-management behaviours to enhance a sense of control over the illness, and of providing counselling and support around the guilt, blame, shame, fear and stigma so often attached to individuals' explanations for their illnesses (Austin, 2023 ). In Portugal, assessment for certain neuropsychiatric conditions, like autism spectrum disorder and intellectual and developmental disorders, at present qualify as the only PDs with enough evidence supporting genetic testing as part of standard clinical practice (Direção-Geral da Saúde, 2019 ). Nonetheless, genetic testing in PGC do not represent a fundamental paradigm shift and it is not routinely provided (Koido et al., 2023 ). According to Moldovan et al. ( 2019 ), PGC in Portugal, as well as in other countries, was just emerging and family history of psychiatric disorders was only discussed in clinical genetics settings if raised by a patient during intake or if uncovered by the medical professional during a session for another indication, but it was rarely the reason for the primary referral. Additionally, PGC training was not formally or routinely offered as part of the MSc in genetic counseling nor as part of medical schools and independent continuous education courses. Although genetic testing is often the main reason to seek or to be referred to GC, professionals have an extended scope of roles and tools that make PGC beneficial in its absence (Austin, 2020 ; Manzini & Vears, 2018 ). Qualitative and quantitative research studies have shown meaningful positive outcomes of PGC for individuals affected by major PDs and their family. The evidence includes research on the effects and effectiveness (Costain, Esplen, Toner, Hodgkinson, et al., 2014; Costain, Esplen, Toner, Scherer, et al., 2014 ; Hippman et al., 2016 ; Inglis et al., 2015 ; Moldovan et al., 2017 ), on the clinical need and desire from patients and relatives (Hippman et al., 2013 ; Lyus, 2007 ; Morris et al., 2018 ; Semaka & Austin, 2019 ; Slomp et al., 2018 ), on the factors hindering its implementation (Bennett et al., 2008 ; Ciucă et al., 2021 ; Koido et al., 2023 ; Pinzón-Espinosa et al., 2022 ), and others (Austin et al., 2006 ; Finn et al., 2005 ; Inglis et al., 2017 ; Kendall et al., 2024 ; Leach et al., 2016 ; Zhou et al., 2014 ). In an attempt to keep up with the research and evidence being produced regarding PGC around the world, and as a first approach to the theme, we meant to obtain a brief overview of the current status of PGC in Portugal from the perspectives of the primary referral points for people with PDs, using a method that enabled an exploratory framework. This study aims to explore the current perceptions of family physicians and psychiatrists regarding GC provision and its potentialities in the context of psychiatric illnesses in Portugal. Specifically, we aim to: (i) explore the perceptions of participants regarding the role of genetics in the context of psychiatric illnesses; (ii) understand the attitudes and awareness of family physicians and psychiatrists’ regarding the need to approach the genetics/hereditability of psychiatric patients and their families; (iii) explore the potential of providing GC consultations focused on psychiatric illnesses; and (iv) identify possible barriers of GC provision in this context. Methodology and Methods For this exploratory study, we used a qualitative methodology with semi-structured interviews to provide a deeper and more comprehensive understanding of the topic. Thematic analysis, as the chosen method, was employed to identify, analyse, and report patterns of meaning within the qualitative data, aiming to broaden knowledge on the subject (MacFarlane et al., 2014 ; Wainstein et al., 2023 ). Participants and recruitment The choice of participants for this study was purposeful and based on their role as primary referral point for individuals with psychiatric disorders. By selecting psychiatrists and family physicians, we aimed to gather insights from the medical professionals who are most likely to encounter patients with psychiatric conditions and who are in positions to refer these patients to GC. These practitioners' perceptions are crucial for understanding the current status of PGC in Portugal, as they are often the first point of contact for patients seeking mental health care. Additionally, their professional experiences and interactions with patients provide valuable perspectives on the potential integration of GC into psychiatric practice. Recruitment for the interviews was conducted through professional associations and personal networks. Specifically, the recruitment process involved contacting various professional organizations to disseminate information about the study. Additionally, project members further disseminated the project through their personal networks, leveraging their professional contacts within the medical community. The study information included the researchers' contact details. Interested volunteers were invited to email the researchers expressing their interest in participating in the study, attaching the consent form (previously provided) and indicating their preferred date and time for the interview. Instrumentation The semi-structured interview guide was created to cover three major subjects, as briefly shown in Table 1 . The interview guide was revised iteratively as interviews were completed, including adding an additional question and rephrasing of questions. Table 1 Semi-structured interview guide. Subjects Points to cover 1. Familiarity with genetics as a specialty within health care • Professional experience with the medical genetics service in general • General knowledge of GC 2. Importance attributed to genetics in clinical practice in the specific context of PDs • Professional experience with the medical genetics service in the context of PDs • Awareness around psychiatric genetics • Attitudes and level of comfort exploring the genetic/heritable component of a PD 3. Psychiatric Genetic Counselling • Knowledge, perceptions and attributed relevance • Prospects and barriers perceived of its provision Data collection and analysis Besides the initial informed consent that we asked participants to send, at the beginning of each interview, we inquired if there were any questions related to the project before we started. Additionally, we sought their verbal consent to begin recording the interview. This two-step consent process ensured that participants were fully informed and comfortable with the study procedures, reaffirming their willingness to participate and be recorded. Participants were aware that Ribeiro, B was a MS in Genetic Counselling student and that the study was for partial fulfilment of the requirements of her MS. Interviews were conducted and recorded using Microsoft Teams, transcribed verbatim in Portuguese using the automated transcription option of the Microsoft Teams platform and then checked for accuracy. Interviews ranged from 24 to 47 minutes. The average duration of the interviews was approximately 35 minutes. For data analysis, two researchers independently coded the data before meeting to compare their analyses, identifying and organizing common major and minor themes. The coding process involved an initial overview by reading and immersing in the data, followed by detailed line-by-line coding to systematically apply and group codes into themes. In this study, we adhered to the concept of Theoretical Sufficiency. This approach emphasizes achieving a robust and comprehensive understanding of the core themes and categories rather than striving for absolute saturation where no new information is discovered (Wainstein et al., 2023 ). By the end of our data collection, we had gathered sufficient information to construct a supported theory regarding participants' perceptions about GC in PDs. Although additional interviews might have introduced minor new insights, the central theoretical understanding was already well-established. Results Demographics Eleven interviews were conducted and recorded, resulting in eleven transcripts. Among the participants, five were family physicians, and six were psychiatrists, comprising four specializing in adult psychiatry and two in child and adolescent psychiatry. The participants exhibited a range of ages and years of professional experience. The youngest interviewee was 33 years old with one year of specialized experience, while the oldest was 67 years old with 25 years of specialized experience in their respective fields. Table 2 Participants’ medical specialty, age and years of experience. Participant medical specialty Age years of experience P1 adult psychiatrist 31–35 6–10 P2 adult psychiatrist 66–70 21–25 P3 adult psychiatrist 31–35 1–5 P4 adult psychiatrist 31–35 1–5 P5 child and adolescence psychiatrist 36–40 6–10 P6 child and adolescence psychiatrist 31–35 1–5 P7 family physician 36–40 1–5 P8 family physician 31–35 1–5 P9 family physician 46–50 21–25 P10 family physician 41–45 11–15 P11 family physician 46–50 16–20 Themes and sub-themes From the collected data, three themes emerged: (1) the role of genetics in healthcare, (2) barriers to PGC implementation, and (3) perceived benefits associated with its implementation. Figure 1 illustrates the structure of these conceptual categories, including further subthemes within each theme. Theme 1: Genetics in healthcare Within the first theme, four sub-themes were identified. Specialists highlighted several issues related to the organisation and structure of health services . The data revealed an issue with the fragmentation of care among medical specialties. The lack of integration also raises questions about which specialty should assume responsibility for PGC, and which specialty should assume the clinical responsibility of referrals in this situation. “Normally, as far as I know, it's rarely psychiatry that makes the referral, and if it is, it has to be from larger, more central hospitals. I think it's more often done by neurology. When there is some overlap, they also have greater coordination with the services.” P1 The data indicates a pervasive issue of insufficient articulation between the professional groups, i.e. family physicians, psychiatrists and geneticists. Participants frequently mentioned that the communication between them (primary and secondary care providers) and the genetic services (tertiary care providers) is unidirectional and infrequent in their clinical practice. “The idea I have, which may be completely wrong, is that there is no established close connection with genetics, at least in the places I've been.” P1 “(…) during my internship, (…) but from what I remember, it was the only point of contact throughout my experience with psychiatry that we had with the genetics service.” P4 “In terms of feedback, if the person is my patient, yes, they return information, especially if there is some risk or if there is any positivity. But it’s from the patient themselves who comes to the consultation and tells me if they want to. It’s not really the genetics service.” P10 Participants emphasized the need for better-defined pathways and more robust communication channels to ensure that patients receive timely and appropriate GC and follow-up care if and when needed. There was a consensus on the need for comprehensive guidelines and robust referral networks to streamline the integration of GC into routine healthcare. “There has to be knowledge on the part of all of us about where to refer, what type of referral to make. (…) And it doesn't have to be guidelines in the sense of restriction, but of guidance.” P2 Another significant sub-theme was the general lack of knowledge about the practice of genetic counselling . A prevalent issue identified in the data is the widespread lack of understanding about what GC entails. Many participants associated GC primarily with the process of conducting genetic tests, often viewing it solely as a means to provide etiological clarification. Recurrence risk information also emerged as another perceived primary objective of GC. “So, no one, I think, with good practice, would request genetic counselling for, for example, schizophrenia, bipolar disorder, or a mood disorder, an anxiety disorder. Although we know there is a very strong genetic component in all of them.” P2 “I imagine there could be a phase of study, you know... of the genome in certain, in a particular clinical doubt that may exist in that person. And then based on what is found, on the yes or no of that doubt.... I presume that counselling would then be done.... which might concern, therefore, information about the risk, you know... of developing that disease; what behaviours or treatment they could undertake to reduce the risk of having that disease or of that disease becoming a problem for them? Or perhaps transmitting that disease to descendants. I'm sure there are other potentials, but these are the ones that come to mind suddenly, never having had close contact with the specialty.” P7 While there was some acknowledgment of the empirical and probabilistic risks associated with genetic conditions, this understanding was often superficial. Participants recognized the importance of discussing these risks, but many struggled to integrate this knowledge into a comprehensive counselling framework that addresses the multifaceted needs of patients. “Well, here, maybe even I need to understand a bit more about what can be done from the perspective of genetic counselling. Genetic counselling might not just be about doing tests and understanding mutations; it can also be about framing data, providing probabilities... even if that information is not very objective.” P3 Some healthcare providers are unable to articulate what constitutes a GC session. This narrow perception overlooks the broader objectives and processes involved in GC, such as psychosocial support, management planning, patient education, ethical and legal considerations, communication skills, resource navigation, long-term follow-up, etc. There is significant enthusiasm for the potential of genetics in personalised medicine . Participants often viewed genetics as a tool for achieving definitive preventive care and treatment solutions, but the inherent complexities and interpretive challenges of genetic data suggest a need for more realistic and nuanced understanding. Participants expressed a particular interest in the potential of pharmacogenetics to optimise treatment. The potential for genetics to aid in preventive medicine was another highlighted area. "We can order tests and everything else, but it’s almost always to exclude other things and not to show that this disease exists, because that evaluation is based on what we see; on what the person tells us; and we deduce from that. So, I think it would be different and I think it would bring a certain objectivity to our practice that we still do not have. And that would be one of the goals of those who have been in this field for a long time. One of the desires is that we could base more on objective data and we are not yet doing that. Therefore, I think it would change the scope of the consultation somewhat if we integrated this genetic counselling." P3 “The identification of the problem in connection with a gene and its transmissibility has great benefits for disease prevention, or for being vigilant in other situations, or determining some risk situations that require additional care for that family or that syndrome." P6 The current practices and management of PDs were also an emerged sub-theme. Participants recognized the subjective and multifactorial nature of psychiatric conditions, emphasising the need for more scientific evidence in applying genetics to these disorders. They also noted the limited availability of genetic tests specific to psychiatric conditions. Nevertheless, most of them did acknowledged the relevance of genetics in their clinical practice, with most of them engaging in family history risk assessments. “I think, therefore, my personal opinion is that in terms of psychiatric disorders with... with genetic detection or genetic screening, I believe that situation is not yet well clarified... because I don’t have any case on my list of a psychiatric disorder identified by genetic risks, although they may exist. I know they exist... therefore, in a family context, yes. With an associated gene, I don't believe the genetics consultation works well in that sense, but there is a family risk...” P10 “We don’t have magical results like 'if this person has this genetic alteration, it means this', we don’t have that, okay?” P1 There is also an acknowledgement that more research is needed to establish clear genetic associations in psychiatric disorders. “But also, from what I know, there is no gene that is evidently associated. So, I think we still have a lot to discover. Based on the scientific evidence we have, for example, in oncogenetics, familial polyposis, BRCA, cardiomyopathies... that is already studied, we have this evidence, don’t we? Therefore, in the psychiatric part, perhaps due to my own misinformation... But it ends up being a bit difficult...” P8 “We have this scientific knowledge, but it’s not something we integrate into our daily practice, is it... we know that schizophrenia has familial aggregation, but if we have a schizophrenic patient or a suspect, a family member, we’re not going to do a test to diagnose. The diagnosis is still essentially clinical.” P3 Theme 2: Barriers to PGC Implementation Within the second theme, three sub-themes emerged. Participants identified several biopsychosocial and cultural factors that act as barriers to the implementation of PGC. These included the stigma associated with psychiatric conditions, a general lack of sensitivity towards GC, concerns about the personal utility of genetic information, and resistance to changing existing practice models. “The issue of stigma... I think it influences. When I say stigma, I mean from patients, their families, and other healthcare professionals, okay? Because psychiatry is still seen by some colleagues from other specialties as something strange, ‘it’s all in their head’. They don’t view it as a disease; they think it’s just alterations…” P1 “Changing practices is always a barrier but also a potential, because once doctors see that their patients benefit from counselling, they naturally begin to adhere much more to the intervention. (…) There is a risk that no one will be referred, at least initially, until the habit is established” P7 “Psychiatric disorders are not necessarily considered like other diseases, so the problem starts there. But yes, I think genetic counselling in psychiatry is very important. Now, what’s up to us is to inform the population so they find it important.” P9 “People feel a bit inhibited in secondary care to ask questions that they might feel are a bit naive or that they don’t fully understand. Often, they bring a letter from secondary care and ask the family doctor to explain what it means and what the risk is.” P11 The variability in responses regarding patient inquiries about genetics suggests that while patients may occasionally be interested in genetic aspects, the overall engagement with GC remains limited. Practical challenges and applicability were another significant barrier. Issues such as resource management, funding, organisation, and accessibility were frequently mentioned. There were also concerns about the clinical utility of GC in psychiatric practice, particularly regarding how it could be integrated effectively into current healthcare systems. "Well, if it were just genetic counselling where we are not going to do anything, perhaps I would leave the consultation for those cases where we can actually do something... but that, perhaps, would depend more on your side... as a matter of resource management." P5 "Given that, so far, the world in quotes advances without any of this... probably the funding. Ah... I don’t know if it would be a priority, it would probably need to prove significant economic benefits to be funded." P7 "Although we know that there is a very important genetic component, they do not require genetic counselling to the extent that they have an incidence determined by many other factors and, therefore, predictability is not possible. The phenotypes are not predictable, you know..." P2 The centralization of genetic services leads to accessibility issues, particularly for patients in remote or underserved areas. "I also think one issue is the coordination with the (genetics) services for certain psychiatric services that are isolated, you know? Even if they are sometimes, even if they are part of general hospitals, sometimes they are in peripheral buildings, you know? So, there is a certain distance." P1 The need for education and guidelines was a prominent sub-theme. Participants expressed a desire for more training opportunities specifically tailored to their needs, indicating a gap in current educational offerings in genetics. “So, we read things, but there isn’t really… We don’t do internships in these areas. I mean, maybe some have done them, but it’s not very common, nor is it an area integrated into our training programme.” P3 "Ah yes, I can add that I would like there to be more training opportunities in genetics. The few I saw directed at family doctors, when I opened the programme, I thought it was not very focused on our daily practice." P11 "And what I am saying, about advising and explaining warning signs, is almost... I won't say I invented it myself, but... I did not have formal training on this and I do not have a sense of the good or harm I am doing, so, no, I am doing this empirically, I confess. It is what I am saying, it is a very large specialty and we have many gaps in many areas." P9 There is a perceived gap in the integration of genetic aspects within psychiatric practice, with participants noting that genetics in this context is not often a primary focus in their daily clinical activities. Nevertheless, they all agreed on the necessity for reliable information sources and the harmonisation of practice to ensure consistent and effective implementation of PGC. "No. My mistake, no... I usually ask about cardiovascular pathology and neoplasms. It is also a matter of time constraints and also a lack of awareness among family doctors about it." P9 "And, we, family doctors are constantly updating... every day new information comes out... and the psychiatry part, it gets a bit sidelined. This is without a doubt... and sometimes it is a bit difficult for us to manage this in the consultation." P11 "In my daily clinical practice, I do not, I do not think much about the genetic aspect of pathologies, in psychiatric pathology. No, I won't say I do, because I don't... I don't think about it." P8 Theme 3: Potentialities of PGC implementation The third theme focused on the perceived benefits of implementing PGC, with three sub-themes emerging. Respondents underscored the value of a holistic and humanistic approach to care. They noted that person-centred care, which includes GC, could help demystify and destigmatise psychiatric conditions, fostering a supportive environment for patients. "I think above all, it should have a more humanistic, empathetic, and destigmatising component. Because the idea of being able to, I imagine it is the same for any disease, but especially when we talk about psychiatric illnesses which already have so much stigma, I think some reassurance and empathy in handling these cases is crucial." P4 "It is important, and I often discuss with my patients the issue of susceptibility, explaining that there is a threshold beyond which the disease manifests. Some people are genetically closer to this threshold, while others are further from it. So, what we address is not the disease itself but the susceptibility to trigger that disease." P2 Another key benefit highlighted was the power and value of information that may be provided through GC. Participants emphasised that such information could enrich the decision-making process, empower and educate patients, and uphold the patients' right to receive pertinent information in an appropriate manner. "For some people, it may be important to know. 'If I have a child, what will the risk be?' I believe people care deeply about this knowledge because they do not want their children to endure the same suffering.” P1 "Genetic counselling, in any area, and what I know best now is in oncology, is not about telling the person 'you have this and this will happen'. No. It provides information, in a context, in a certain way, which then says certain things, and eventually in the future... but it is always a probabilistic basis and therefore, in that sense, genetic counselling still makes sense, yes." P3 "I think it has implications both diagnostic and therapeutic, as well as in the information and psycho-education we do with patients about the fears they have." P4 Finally, the potential of GC to enhance personalised and preventive medicine was again mentioned. Respondents pointed out the possibilities for risk stratification, the application of pharmacogenetics, and the implementation of preventive measures as significant advantages of integrating genetic insights into psychiatric care. "I think it could optimise treatment because perhaps if we had genetic data, we could use drugs without so much trial and error, right? If we know someone is a slow metaboliser, a fast metaboliser... If we had this information upfront, we could probably more easily adjust treatment plans." P3 "The potentialities, I think, depend on what the technique allows, right? That is, if it were possible for us to take a child and with genetic evaluation, we could predict with some degree of reliability what might happen in the future, that would be a great potential, not only for us to keep informed, for people to be aware, to have regular check-ups to prevent as early as possible." P6 "Also doing research, particularly in the family, depending on the type of situation we have, most of the time they are autosomal recessive, and therefore, the type of counselling to the family, screening parents and siblings, and therefore the counselling ends up being in the sense of prevention, regarding risk situations that this genetic condition might determine." P2 Discussion This study provides a pioneering exploration of how family physicians and psychiatrists in Portugal perceive the provision of Genetic Counselling for Psychiatric Conditions. This is an emergent field of practice of GC, but a concept not yet established in our country. We sought to understand the perspectives of these key professionals on psychiatric genetics and GC within psychiatric context, acknowledging the growing global importance of this field. By employing an exploratory qualitative framework, the study provides some first insights and hopefully sets the stage for future discussions and research in this developing field. Similarly to results found elsewhere (Finn et al., 2005 ; Zhou et al., 2014 ), our data suggests that psychiatrists and family physicians view genetic information as clinically relevant but have limitations of knowledge that may impact the incorporation of psychiatric genetics into clinical practice. Many interviewees found challenging to fully grasp the broad objectives and benefits of GC interventions. The association of GC primarily with the provision of information about genetic testing and recurrence risks was common, while relevant tasks and goals of GC consultations were largely unknown. Given that genetic testing for psychiatric conditions is not routinely available in clinical practice, the immediate demand for GC in this area may be perceived as low. Unsurprisingly, the availability and mainstreaming of genetic testing seem to influence how GC is perceived and utilized. A recent study examining the major obstacles to implementing PGC and genetic testing across European countries revealed that professionals identified the lack of guidelines and education as significant barriers (Koido et al., 2023 ). Our findings echoed these concerns, with interviewed professionals emphasizing the need for specialized training and clearer guidelines on how to integrate genetic knowledge into their practice. As genetic medicine becomes more integrated into primary and secondary care, the urgency for physicians to develop genetic literacy is growing. Although the importance of genetics is increasingly recognized, particularly with the advent of personalized medicine, the integration of this field into medical education is likely uneven across training institutions in the country. Assessing the extent and depth of genetic content in medical curricula and establishing clinical competencies in genetics and genomics, tailored to different professional backgrounds, would be valuable steps towards aligning Portuguese medical education more closely with European standards (ESHG, 2009 ). Participants in this study highlighted the need for a holistic and humanistic approach in a potential PGC service, fostering a supportive environment for patients. Like other sub-specializations within GC, PGC requires additional professional competencies, particularly in tailoring the counselling process to address the unique emotional and psychological complexities of psychiatric conditions. Stigma surrounding mental illness remains “the main obstacle to the provision of care for people with mental disorders” (Bennett et al., 2008 ; Sartorius, 2007 ). Participants in this study were acutely aware of this challenge, recognizing its perpetuation not only among patients and their families but also within the healthcare community. This underscores the persistence of the issue and the importance of taking it into consideration. Austin ( 2020 ) provides a comprehensive 'Manual for Psychiatric Genetic Counselling,' serving as an essential professional resource to ensure that PGC is evidence-based and appropriately adapted to this context. In Portugal, most genetic services are integrated into tertiary care located in major cities like Lisbon, Porto, and Coimbra, necessitating referrals to centralised services and creating some barriers to access (Costa et al., 2022 ). In our study participants highlighted the practical challenges of coordinating care across distances, leading to delayed or fragmented service provision in this specific context. We believe that adopting multidisciplinary team systems could mitigate current issues of fragmentation by fostering strong relationships and effective communication among team members, while also incorporating patients’ choices, views, and psychosocial factors into decision-making processes. Broader national implementation of sub-specialized services like PGC would require a strategic shift towards a more collaborative and multidisciplinary approach (Costa, Silva, et al., 2024 ). The recognition of genetic counsellors’ profession and their integration into the Portuguese healthcare could enhance the availability of genetic professionals and support the provision of comprehensive care, as for instance in the often-overlooked field of PDs (Slomp et al., 2022 ). Genetic counsellors, with specialized skills and training, are well-positioned to address these gaps. However, the lack of formal recognition of the profession in the country limits their ability to contribute effectively and delays the expansion of their roles into new areas and sub-specialties where their expertise can be an added value (Lungu et al., 2024 ). Additionally, recent national discussions among experts have pointed out the need for reforming medical genetics services and education, to better prepare future healthcare professionals for the challenges of integrating genetics into routine clinical care (Costa, Guimarães, et al., 2024 ). Assessing the readiness for the implementation of PGC is indeed a complex task, and our data alone cannot provide a comprehensive evaluation. However, it appears that Portugal is still navigating certain fundamental challenges in genetic healthcare provision, which may indicate that the healthcare system might not yet be fully equipped to invest in sub-specialized services like PGC. While the enthusiasm among psychiatrists and family physicians to learn and have PGC alongside their care practice is encouraging, the necessary groundwork seems to have not yet been laid. It will require a concerted effort across multiple domains, including education, policy, and service delivery. By continuing to explore and address these challenges, the path toward effective and widespread implementation of PGC in Portugal can become clearer and more attainable. Study Limitations One of the limitations of this study is the potential self-selection bias among participants. Those who volunteer to participate may already have a heightened sensitivity or interest in the topics of genetics and genetic counselling. As a result, their views and attitudes may not be fully representative of the broader population of psychiatrist and family physicians in the country. Response bias is another potential limitation of this study. Participants might have provided answers they deemed more socially acceptable or expected, rather than their true beliefs and attitudes. This could affect the authenticity and reliability of the findings. Further research on this topic As for the next steps in research, a more comprehensive evaluation of the readiness for PGC implementation is essential. Future studies should aim to include the perspectives of medical geneticists, who are crucial stakeholders in this field. Additionally, exploring the needs of patients, particularly those who might benefit most from PGC, could provide valuable insights into how services should be structured. Evaluating the depth and breadth of genetic content in medical curricula, alongside establishing clinical competencies tailored to various healthcare backgrounds, will be essential for aligning Portuguese medical education with European standards. Moreover, policy analysis will be vital in identifying both enablers and barriers within the healthcare system that could impact the successful implementation of PGC. By addressing these aspects, future research can support the development of a robust, patient-centered approach to PGC in Portugal. Conclusion This study offers an initial exploration into the perceptions of family physicians and psychiatrists in Portugal regarding the role of genetics and the potential for GC in the context of psychiatric illnesses. Results show that while the importance of genetics in PDs is acknowledged, there is low literacy about GC practice from the professional groups interviewed.The availability and mainstreaming of genetic testing seem to influence how GC is perceived and utilized. Additionally, there is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare.A holistic and patient-centred approach is considered essential in managing PDs and, by extension, in PGC, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate PGC into their patients’ care, it seems that certain fundamental challenges persist in genetic healthcare provision. Declarations Acknowledgements The authors thank the Portuguese Association of General and Family Medicine (APMGF) and the Portuguese Association of Child and Adolescent Psychiatry (APPIA) for facilitating the distribution of study information to potential participants. The authors also wish to warmly thank the research participants for providing their valuable perspectives and experiences. Competing interests: The authors declare that they have no conflict of interest. This article does not contain any studies with human or animal subjects performed by the any of the authors. Ethics approval: The study was approved by the Committee for Ethics and Responsible Conduct in the research of the Institute for Research and Innovation in Health (Appraisal N20/CECRI/2023). Author’s contributions Conceptualization: BR, MP; methodology: BR, MP; formal analysis and investigation: BR, MP; writing - original draft preparation: BR; writing - review and editing: BR, RM, MP; resources: BR, AS, IHM, , MP; supervision:, RM, MP. References Almeida J, Xavier M, Cardoso G, Gonçalves Pereira M, Gusmão R, Correa B, Gago B, Talina J, M., Silva J (2013) Estudo Epidemiológico Nacional de Saúde Mental. 1. o Relatório. In World Mental Health Surveys Initiative: Lisboa American Psychiatric Association (2013) Diagnostic and Statistical Manual of Mental Disorders. American Psychiatric Association. https://doi.org/10.1176/appi.books.9780890425596 Austin JC (2020) Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map. Cold Spring Harbor Perspect Med 10(6):a036608. https://doi.org/10.1101/cshperspect.a036608 Austin JC (2023) Psychiatric Genetic Counseling: Next Steps. 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Am J Med Genet Part B: Neuropsychiatric Genet 180(8):523–532. https://doi.org/10.1002/ajmg.b.32735 Moldovan R, Pintea S, Austin J (2017) The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis. J Genet Couns 26(6):1341–1347. https://doi.org/10.1007/s10897-017-0113-8 Morris E, Hippman C, Murray G, Michalak EE, Boyd JE, Livingston J, Inglis A, Carrion P, Austin J (2018) Self-Stigma in Relatives of people with Mental Illness scale: development and validation. Br J Psychiatry 212(3):169–174. https://doi.org/10.1192/bjp.2017.23 Müller DJ (2020) Pharmacogenetics in Psychiatry. Pharmacopsychiatry 53(04):153–154. https://doi.org/10.1055/a-1212-1101 Murray GK, Lin T, Austin J, McGrath JJ, Hickie IB, Wray NR (2021) Could Polygenic Risk Scores Be Useful in Psychiatry? 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Cite Share Download PDF Status: Published Journal Publication published 19 Feb, 2025 Read the published version in Journal of Community Genetics → Version 1 posted Editorial decision: Revision requested 30 Nov, 2024 Reviews received at journal 21 Oct, 2024 Reviewers agreed at journal 27 Sep, 2024 Reviewers agreed at journal 27 Sep, 2024 Reviewers invited by journal 27 Sep, 2024 Editor assigned by journal 26 Sep, 2024 Submission checks completed at journal 26 Sep, 2024 First submitted to journal 26 Sep, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5160433","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":384509488,"identity":"ccc5e748-b309-433c-9e27-4da81d5c3de5","order_by":0,"name":"Bibiana Ribeiro","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAABEElEQVRIiWNgGAWjYBACA2YehgMQJmMbkMvAwA9iJxSQokWyAaTFAI8WBh44mw0icgAijhOYs/MePPBzh10e/+zDbQ8+FNyTMz6/OvHDAwMGeX6xA1i1WDbzJRzsPZNcLHEusd1whkGxsdmNt5slgA4znDk7AbvDDvMYHOBtY05sOMPYJs1jkJC47cbZDSAtCQa3cWs5+LetPnE+SMsfoJbNM85u/kFIy2HetsOJG0BaGIBaNvD3bsNrC8gvh2XbjhcbnmFsN+wxSDCWuMG7zSLBQAKnX8z5zx7++LatOk/uDPuzBz/+JMjx95/dfPNHhY08vzR2LTCAJCsBZkvgVY6mhf8AQdWjYBSMglEwsgAAWh9jqKmQMcEAAAAASUVORK5CYII=","orcid":"","institution":"ICBAS – School of Medicine and Biomedical Sciences, University of Porto","correspondingAuthor":true,"prefix":"","firstName":"Bibiana","middleName":"","lastName":"Ribeiro","suffix":""},{"id":384509489,"identity":"91bffe82-dc89-401a-acbe-57be9dac922b","order_by":1,"name":"Inês Homem de Melo","email":"","orcid":"","institution":"Clínica do Quinto Andar","correspondingAuthor":false,"prefix":"","firstName":"Inês","middleName":"Homem","lastName":"de Melo","suffix":""},{"id":384509490,"identity":"0c0a156f-2630-4f6a-8a37-fd26cda230e3","order_by":2,"name":"Ana Sequeira","email":"","orcid":"","institution":"CUF S. 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Genetic counselling (GC) emerged as a specialist healthcare discipline in the 1960s and, since then, we can recognize its growth and its worldwide dissemination (Ormond et al., \u003cspan citationid=\"CR42\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). Different sub-specialties within this discipline begun to emerge, namely and more recently, psychiatric genetic counselling (PGC).\u003c/p\u003e \u003cp\u003eGenetic counselling is, by definition, \u0026ldquo;a process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease\u0026rdquo; (Resta et al., \u003cspan citationid=\"CR46\" class=\"CitationRef\"\u003e2006\u003c/span\u003e). GC entails holistic discussion covering both genetic and environmental factors contributing to conditions, and it aims to empower individuals to make informed, autonomous decisions that resonate with their values (Austin, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). Over the years, in the context of various conditions, research has consistently demonstrated that GC is effective when it comes to increasing patient knowledge, empowerment and autonomy in decision-making, decreasing stigma and generating high patient satisfaction, among others (Ison et al., \u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e2019\u003c/span\u003e; Madlensky et al., \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2017\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eAccording to the American Psychiatric Association, a psychiatric disorder (PD) is \u0026ldquo;a syndrome characterized by clinically significant disturbance in an individual\u0026rsquo;s cognition, emotion regulation, or behaviour that reflects a dysfunction in the psychological, biological, or developmental processes underlying mental functioning\u0026rdquo; (American Psychiatric Association, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2013\u003c/span\u003e). PDs have complex etiopathogenetic mechanisms where both genetic predisposition and environmental factors contribute to the risk and expression of these conditions. The field of psychiatric genetics is dynamic, with ongoing research aimed at unravelling the intricate genetic and environmental factors contributing to mental health disorders (Hoehe \u0026amp; Morris-Rosendahl, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Keverne \u0026amp; Binder, \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e2020\u003c/span\u003e; M\u0026uuml;ller, \u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e2020\u003c/span\u003e; Murray et al., \u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). The genetic architecture of PDs is highly polygenic and includes the full spectrum of DNA variation (Gratten et al., \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2014\u003c/span\u003e; Smoller, \u003cspan citationid=\"CR51\" class=\"CitationRef\"\u003e2019\u003c/span\u003e; Wand et al., \u003cspan citationid=\"CR53\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). Understanding the multifactorial nature of PDs is crucial for researchers, clinicians, individuals affected by these conditions and their family.\u003c/p\u003e \u003cp\u003ePDs are highly prevalent, and they impact the lives of millions of people worldwide. In Portugal, the prevalence of lifetime mental disorders is above 30%, mental health disorders represent 11.7% of disease-adjusted life years lost; Portugal experiences a high prevalence of depression (7.9%), anxiety (16.5%), impulse disorders (3.5%), and substance abuse (1.6%) in comparison with other European countries (Almeida et al., \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2013\u003c/span\u003e). Although significant prevalent, this historically undervalued community is still poorly served and there is a need to reinforce coordination between Primary Health Care and hospital care in mental health (Entidade Reguladora da Sa\u0026uacute;de, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e2023\u003c/span\u003e; Magalh\u0026atilde;es et al., \u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e2016\u003c/span\u003e). In Portugal, mental health care can be provided inpatient or outpatient, in the latter case in consultations, day hospitals and psychosocial rehabilitation structures. This care is provided by public, private and social entities, with agreements with the National Health System. Psychiatrists and family physicians are the primary referral points for people with PDs, whom they mainly rely on for referrals to secondary and tertiary care as needed, including to medical genetic services.\u003c/p\u003e \u003cp\u003eIn Portugal, GC is considered a medical act, but generally entrusted to specialists in Medical Genetics (Paneque et al., \u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Portugal has five government-funded medical genetics hospital centres integrated into the National Health System (Ordem dos M\u0026eacute;dicos, \u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). Any medical doctor can refer a patient or family to the nearest medical genetics service; in addition, relatives of registered patients can request an appointment. Some private centres and general hospitals also provide genetic testing for various diseases along with GC services (Paneque et al., \u003cspan citationid=\"CR44\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Genetic counselors are not yet recognized as professionals by the competent national authorities (Lungu et al., \u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e2024\u003c/span\u003e). There is an urgent need to increase the number of medical geneticists, non-medical genetic professionals and other health care professionals, aiming for a multidisciplinary and user-centred approach in the public genetic services that are currently saturated and limited in resources (Costa et al., \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2022\u003c/span\u003e; Costa, Guimar\u0026atilde;es, et al., \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2024\u003c/span\u003e; INSA, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2022\u003c/span\u003e; Mendes et al., \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Paneque et al., \u003cspan citationid=\"CR43\" class=\"CitationRef\"\u003e2018\u003c/span\u003e).\u003c/p\u003e \u003cp\u003ePGC is an emerging field conceptually identical to GC but more psychotherapeutically focused, seeking to help patients make personal meaning of the factors that can contribute to the development of a mental health condition that they have or that runs in their family (Austin, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2020\u003c/span\u003e; Moldovan et al., \u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). PGC practitioners view their work through the lens of valuing the interaction as primarily existential rather than solely focused on risk specific. They prioritize addressing emotional issues that arise during these discussions. Within PGC, it is emphasized the importance of addressing misconceptions about aetiology, promoting self-management behaviours to enhance a sense of control over the illness, and of providing counselling and support around the guilt, blame, shame, fear and stigma so often attached to individuals' explanations for their illnesses (Austin, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2023\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eIn Portugal, assessment for certain neuropsychiatric conditions, like autism spectrum disorder and intellectual and developmental disorders, at present qualify as the only PDs with enough evidence supporting genetic testing as part of standard clinical practice (Dire\u0026ccedil;\u0026atilde;o-Geral da Sa\u0026uacute;de, \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). Nonetheless, genetic testing in PGC do not represent a fundamental paradigm shift and it is not routinely provided (Koido et al., \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). According to Moldovan et al. (\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e2019\u003c/span\u003e), PGC in Portugal, as well as in other countries, was just emerging and family history of psychiatric disorders was only discussed in clinical genetics settings if raised by a patient during intake or if uncovered by the medical professional during a session for another indication, but it was rarely the reason for the primary referral. Additionally, PGC training was not formally or routinely offered as part of the MSc in genetic counseling nor as part of medical schools and independent continuous education courses.\u003c/p\u003e \u003cp\u003eAlthough genetic testing is often the main reason to seek or to be referred to GC, professionals have an extended scope of roles and tools that make PGC beneficial in its absence (Austin, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2020\u003c/span\u003e; Manzini \u0026amp; Vears, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). Qualitative and quantitative research studies have shown meaningful positive outcomes of PGC for individuals affected by major PDs and their family. The evidence includes research on the effects and effectiveness (Costain, Esplen, Toner, Hodgkinson, et al., 2014; Costain, Esplen, Toner, Scherer, et al., \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e2014\u003c/span\u003e; Hippman et al., \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; Inglis et al., \u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Moldovan et al., \u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e2017\u003c/span\u003e), on the clinical need and desire from patients and relatives (Hippman et al., \u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Lyus, \u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2007\u003c/span\u003e; Morris et al., \u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Semaka \u0026amp; Austin, \u003cspan citationid=\"CR48\" class=\"CitationRef\"\u003e2019\u003c/span\u003e; Slomp et al., \u003cspan citationid=\"CR49\" class=\"CitationRef\"\u003e2018\u003c/span\u003e), on the factors hindering its implementation (Bennett et al., \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e2008\u003c/span\u003e; Ciucă et al., \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2021\u003c/span\u003e; Koido et al., \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2023\u003c/span\u003e; Pinz\u0026oacute;n-Espinosa et al., \u003cspan citationid=\"CR45\" class=\"CitationRef\"\u003e2022\u003c/span\u003e), and others (Austin et al., \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2006\u003c/span\u003e; Finn et al., \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2005\u003c/span\u003e; Inglis et al., \u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e2017\u003c/span\u003e; Kendall et al., \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2024\u003c/span\u003e; Leach et al., \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2016\u003c/span\u003e; Zhou et al., \u003cspan citationid=\"CR54\" class=\"CitationRef\"\u003e2014\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eIn an attempt to keep up with the research and evidence being produced regarding PGC around the world, and as a first approach to the theme, we meant to obtain a brief overview of the current status of PGC in Portugal from the perspectives of the primary referral points for people with PDs, using a method that enabled an exploratory framework.\u003c/p\u003e \u003cp\u003eThis study aims to explore the current perceptions of family physicians and psychiatrists regarding GC provision and its potentialities in the context of psychiatric illnesses in Portugal. Specifically, we aim to: (i) explore the perceptions of participants regarding the role of genetics in the context of psychiatric illnesses; (ii) understand the attitudes and awareness of family physicians and psychiatrists\u0026rsquo; regarding the need to approach the genetics/hereditability of psychiatric patients and their families; (iii) explore the potential of providing GC consultations focused on psychiatric illnesses; and (iv) identify possible barriers of GC provision in this context.\u003c/p\u003e"},{"header":"Methodology and Methods","content":"\u003cp\u003eFor this exploratory study, we used a qualitative methodology with semi-structured interviews to provide a deeper and more comprehensive understanding of the topic. Thematic analysis, as the chosen method, was employed to identify, analyse, and report patterns of meaning within the qualitative data, aiming to broaden knowledge on the subject (MacFarlane et al., \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e2014\u003c/span\u003e; Wainstein et al., \u003cspan citationid=\"CR52\" class=\"CitationRef\"\u003e2023\u003c/span\u003e).\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eParticipants and recruitment\u003c/h2\u003e \u003cp\u003eThe choice of participants for this study was purposeful and based on their role as primary referral point for individuals with psychiatric disorders. By selecting psychiatrists and family physicians, we aimed to gather insights from the medical professionals who are most likely to encounter patients with psychiatric conditions and who are in positions to refer these patients to GC. These practitioners' perceptions are crucial for understanding the current status of PGC in Portugal, as they are often the first point of contact for patients seeking mental health care. Additionally, their professional experiences and interactions with patients provide valuable perspectives on the potential integration of GC into psychiatric practice.\u003c/p\u003e \u003cp\u003eRecruitment for the interviews was conducted through professional associations and personal networks. Specifically, the recruitment process involved contacting various professional organizations to disseminate information about the study. Additionally, project members further disseminated the project through their personal networks, leveraging their professional contacts within the medical community. The study information included the researchers' contact details. Interested volunteers were invited to email the researchers expressing their interest in participating in the study, attaching the consent form (previously provided) and indicating their preferred date and time for the interview.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003eInstrumentation\u003c/h3\u003e\n\u003cp\u003eThe semi-structured interview guide was created to cover three major subjects, as briefly shown in Table \u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e. The interview guide was revised iteratively as interviews were completed, including adding an additional question and rephrasing of questions.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eSemi-structured interview guide.\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"2\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSubjects\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003ePoints to cover\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1. Familiarity with genetics as a specialty within health care\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Professional experience with the medical genetics service in general\u003c/p\u003e \u003cp\u003e\u0026bull; General knowledge of GC\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e2. Importance attributed to genetics in clinical practice in the specific context of PDs\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Professional experience with the medical genetics service in the context of PDs\u003c/p\u003e \u003cp\u003e\u0026bull; Awareness around psychiatric genetics\u003c/p\u003e \u003cp\u003e\u0026bull; Attitudes and level of comfort exploring the genetic/heritable component of a PD\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e3. Psychiatric Genetic Counselling\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u0026bull; Knowledge, perceptions and attributed relevance\u003c/p\u003e \u003cp\u003e\u0026bull; Prospects and barriers perceived of its provision\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \n\u003ch3\u003eData collection and analysis\u003c/h3\u003e\n\u003cp\u003eBesides the initial informed consent that we asked participants to send, at the beginning of each interview, we inquired if there were any questions related to the project before we started. Additionally, we sought their verbal consent to begin recording the interview. This two-step consent process ensured that participants were fully informed and comfortable with the study procedures, reaffirming their willingness to participate and be recorded. Participants were aware that Ribeiro, B was a MS in Genetic Counselling student and that the study was for partial fulfilment of the requirements of her MS.\u003c/p\u003e \u003cp\u003eInterviews were conducted and recorded using Microsoft Teams, transcribed verbatim in Portuguese using the automated transcription option of the Microsoft Teams platform and then checked for accuracy. Interviews ranged from 24 to 47 minutes. The average duration of the interviews was approximately 35 minutes.\u003c/p\u003e \u003cp\u003eFor data analysis, two researchers independently coded the data before meeting to compare their analyses, identifying and organizing common major and minor themes. The coding process involved an initial overview by reading and immersing in the data, followed by detailed line-by-line coding to systematically apply and group codes into themes.\u003c/p\u003e \u003cp\u003eIn this study, we adhered to the concept of Theoretical Sufficiency. This approach emphasizes achieving a robust and comprehensive understanding of the core themes and categories rather than striving for absolute saturation where no new information is discovered (Wainstein et al., \u003cspan citationid=\"CR52\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). By the end of our data collection, we had gathered sufficient information to construct a supported theory regarding participants' perceptions about GC in PDs. Although additional interviews might have introduced minor new insights, the central theoretical understanding was already well-established.\u003c/p\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec7\" class=\"Section2\"\u003e\n \u003ch2\u003eDemographics\u003c/h2\u003e\n \u003cp\u003eEleven interviews were conducted and recorded, resulting in eleven transcripts. Among the participants, five were family physicians, and six were psychiatrists, comprising four specializing in adult psychiatry and two in child and adolescent psychiatry. The participants exhibited a range of ages and years of professional experience. The youngest interviewee was 33 years old with one year of specialized experience, while the oldest was 67 years old with 25 years of specialized experience in their respective fields.\u003c/p\u003e\n \u003cp\u003e\u003c/p\u003e\u0026nbsp;\u003ctable id=\"Tab2\" border=\"1\"\u003e\n \u003ccaption language=\"En\"\u003e\n \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e\n \u003cdiv class=\"CaptionContent\"\u003e\n \u003cp\u003eParticipants\u0026rsquo; medical specialty, age and years of experience.\u003c/p\u003e\n \u003c/div\u003e\n \u003c/caption\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eParticipant\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003emedical specialty\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eAge\u003c/p\u003e\n \u003c/th\u003e\n \u003cth align=\"left\"\u003e\n \u003cp\u003eyears of experience\u003c/p\u003e\n \u003c/th\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eadult psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e31\u0026ndash;35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e6\u0026ndash;10\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eadult psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e66\u0026ndash;70\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e21\u0026ndash;25\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eadult psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e31\u0026ndash;35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e1\u0026ndash;5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eadult psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e31\u0026ndash;35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e1\u0026ndash;5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003echild and adolescence psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e36\u0026ndash;40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e6\u0026ndash;10\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003echild and adolescence psychiatrist\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e31\u0026ndash;35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e1\u0026ndash;5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003efamily physician\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e36\u0026ndash;40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e1\u0026ndash;5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003efamily physician\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e31\u0026ndash;35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e1\u0026ndash;5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003efamily physician\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e46\u0026ndash;50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e21\u0026ndash;25\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003efamily physician\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e41\u0026ndash;45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e11\u0026ndash;15\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003eP11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003efamily physician\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e46\u0026ndash;50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd align=\"left\"\u003e\n \u003cp\u003e16\u0026ndash;20\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n \u003cp\u003e\u003c/p\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e\n \u003ch2\u003eThemes and sub-themes\u003c/h2\u003e\n \u003cp\u003eFrom the collected data, three themes emerged: (1) the role of genetics in healthcare, (2) barriers to PGC implementation, and (3) perceived benefits associated with its implementation. Figure \u003cspan class=\"InternalRef\"\u003e1\u003c/span\u003e illustrates the structure of these conceptual categories, including further subthemes within each theme.\u003c/p\u003e\n \u003c/div\u003e\n \u003ch3\u003eTheme 1: Genetics in healthcare\u003c/h3\u003e\n \u003cp\u003eWithin the first theme, four sub-themes were identified. Specialists highlighted several issues related to the \u003cstrong\u003eorganisation and structure of health services\u003c/strong\u003e. The data revealed an issue with the fragmentation of care among medical specialties. The lack of integration also raises questions about which specialty should assume responsibility for PGC, and which specialty should assume the clinical responsibility of referrals in this situation.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Normally, as far as I know, it\u0026apos;s rarely psychiatry that makes the referral, and if it is, it has to be from larger, more central hospitals. I think it\u0026apos;s more often done by neurology. When there is some overlap, they also have greater coordination with the services.\u0026rdquo;\u003c/em\u003e P1\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThe data indicates a pervasive issue of insufficient articulation between the professional groups, i.e. family physicians, psychiatrists and geneticists. Participants frequently mentioned that the communication between them (primary and secondary care providers) and the genetic services (tertiary care providers) is unidirectional and infrequent in their clinical practice.\u003c/p\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;The idea I have, which may be completely wrong, is that there is no established close connection with genetics, at least in the places I\u0026apos;ve been.\u0026rdquo;\u003c/em\u003e P1\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;(\u0026hellip;) during my internship, (\u0026hellip;) but from what I remember, it was the only point of contact throughout my experience with psychiatry that we had with the genetics service.\u0026rdquo;\u003c/em\u003e P4\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;In terms of feedback, if the person is my patient, yes, they return information, especially if there is some risk or if there is any positivity. But it\u0026rsquo;s from the patient themselves who comes to the consultation and tells me if they want to. It\u0026rsquo;s not really the genetics service.\u0026rdquo;\u003c/em\u003e P10\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eParticipants emphasized the need for better-defined pathways and more robust communication channels to ensure that patients receive timely and appropriate GC and follow-up care if and when needed. There was a consensus on the need for comprehensive guidelines and robust referral networks to streamline the integration of GC into routine healthcare.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;There has to be knowledge on the part of all of us about where to refer, what type of referral to make. (\u0026hellip;) And it doesn\u0026apos;t have to be guidelines in the sense of restriction, but of guidance.\u0026rdquo;\u003c/em\u003e P2\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eAnother significant sub-theme was the general \u003cstrong\u003elack of knowledge about the practice of genetic counselling\u003c/strong\u003e. A prevalent issue identified in the data is the widespread lack of understanding about what GC entails. Many participants associated GC primarily with the process of conducting genetic tests, often viewing it solely as a means to provide etiological clarification. Recurrence risk information also emerged as another perceived primary objective of GC.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;So, no one, I think, with good practice, would request genetic counselling for, for example, schizophrenia, bipolar disorder, or a mood disorder, an anxiety disorder. Although we know there is a very strong genetic component in all of them.\u0026rdquo;\u003c/em\u003e P2\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I imagine there could be a phase of study, you know... of the genome in certain, in a particular clinical doubt that may exist in that person. And then based on what is found, on the yes or no of that doubt.... I presume that counselling would then be done.... which might concern, therefore, information about the risk, you know... of developing that disease; what behaviours or treatment they could undertake to reduce the risk of having that disease or of that disease becoming a problem for them? Or perhaps transmitting that disease to descendants. I\u0026apos;m sure there are other potentials, but these are the ones that come to mind suddenly, never having had close contact with the specialty.\u0026rdquo;\u003c/em\u003e P7\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eWhile there was some acknowledgment of the empirical and probabilistic risks associated with genetic conditions, this understanding was often superficial. Participants recognized the importance of discussing these risks, but many struggled to integrate this knowledge into a comprehensive counselling framework that addresses the multifaceted needs of patients.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Well, here, maybe even I need to understand a bit more about what can be done from the perspective of genetic counselling. Genetic counselling might not just be about doing tests and understanding mutations; it can also be about framing data, providing probabilities... even if that information is not very objective.\u0026rdquo;\u003c/em\u003e P3\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eSome healthcare providers are unable to articulate what constitutes a GC session. This narrow perception overlooks the broader objectives and processes involved in GC, such as psychosocial support, management planning, patient education, ethical and legal considerations, communication skills, resource navigation, long-term follow-up, etc.\u003c/p\u003e\n \u003cp\u003eThere is significant enthusiasm for the potential of \u003cstrong\u003egenetics in personalised medicine\u003c/strong\u003e. Participants often viewed genetics as a tool for achieving definitive preventive care and treatment solutions, but the inherent complexities and interpretive challenges of genetic data suggest a need for more realistic and nuanced understanding. Participants expressed a particular interest in the potential of pharmacogenetics to optimise treatment. The potential for genetics to aid in preventive medicine was another highlighted area.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;We can order tests and everything else, but it\u0026rsquo;s almost always to exclude other things and not to show that this disease exists, because that evaluation is based on what we see; on what the person tells us; and we deduce from that. So, I think it would be different and I think it would bring a certain objectivity to our practice that we still do not have. And that would be one of the goals of those who have been in this field for a long time. One of the desires is that we could base more on objective data and we are not yet doing that. Therefore, I think it would change the scope of the consultation somewhat if we integrated this genetic counselling.\u0026quot;\u003c/em\u003e P3\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;The identification of the problem in connection with a gene and its transmissibility has great benefits for disease prevention, or for being vigilant in other situations, or determining some risk situations that require additional care for that family or that syndrome.\u0026quot;\u003c/em\u003e P6\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThe \u003cstrong\u003ecurrent practices and management of PDs\u003c/strong\u003e were also an emerged sub-theme. Participants recognized the subjective and multifactorial nature of psychiatric conditions, emphasising the need for more scientific evidence in applying genetics to these disorders. They also noted the limited availability of genetic tests specific to psychiatric conditions. Nevertheless, most of them did acknowledged the relevance of genetics in their clinical practice, with most of them engaging in family history risk assessments.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;I think, therefore, my personal opinion is that in terms of psychiatric disorders with... with genetic detection or genetic screening, I believe that situation is not yet well clarified... because I don\u0026rsquo;t have any case on my list of a psychiatric disorder identified by genetic risks, although they may exist. I know they exist... therefore, in a family context, yes. With an associated gene, I don\u0026apos;t believe the genetics consultation works well in that sense, but there is a family risk...\u0026rdquo;\u003c/em\u003e P10\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We don\u0026rsquo;t have magical results like \u0026apos;if this person has this genetic alteration, it means this\u0026apos;, we don\u0026rsquo;t have that, okay?\u0026rdquo;\u003c/em\u003e P1\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThere is also an acknowledgement that more research is needed to establish clear genetic associations in psychiatric disorders.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;But also, from what I know, there is no gene that is evidently associated. So, I think we still have a lot to discover. Based on the scientific evidence we have, for example, in oncogenetics, familial polyposis, BRCA, cardiomyopathies... that is already studied, we have this evidence, don\u0026rsquo;t we? Therefore, in the psychiatric part, perhaps due to my own misinformation... But it ends up being a bit difficult...\u0026rdquo;\u003c/em\u003e P8\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;We have this scientific knowledge, but it\u0026rsquo;s not something we integrate into our daily practice, is it... we know that schizophrenia has familial aggregation, but if we have a schizophrenic patient or a suspect, a family member, we\u0026rsquo;re not going to do a test to diagnose. The diagnosis is still essentially clinical.\u0026rdquo;\u003c/em\u003e P3\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003ch3\u003eTheme 2: Barriers to PGC Implementation\u003c/h3\u003e\n \u003cp\u003eWithin the second theme, three sub-themes emerged. Participants identified several \u003cstrong\u003ebiopsychosocial and cultural factors\u003c/strong\u003e that act as barriers to the implementation of PGC. These included the stigma associated with psychiatric conditions, a general lack of sensitivity towards GC, concerns about the personal utility of genetic information, and resistance to changing existing practice models.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;The issue of stigma... I think it influences. When I say stigma, I mean from patients, their families, and other healthcare professionals, okay? Because psychiatry is still seen by some colleagues from other specialties as something strange, \u0026lsquo;it\u0026rsquo;s all in their head\u0026rsquo;. They don\u0026rsquo;t view it as a disease; they think it\u0026rsquo;s just alterations\u0026hellip;\u0026rdquo;\u003c/em\u003e P1\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Changing practices is always a barrier but also a potential, because once doctors see that their patients benefit from counselling, they naturally begin to adhere much more to the intervention. (\u0026hellip;) There is a risk that no one will be referred, at least initially, until the habit is established\u0026rdquo;\u003c/em\u003e P7\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;Psychiatric disorders are not necessarily considered like other diseases, so the problem starts there. But yes, I think genetic counselling in psychiatry is very important. Now, what\u0026rsquo;s up to us is to inform the population so they find it important.\u0026rdquo;\u003c/em\u003e P9\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;People feel a bit inhibited in secondary care to ask questions that they might feel are a bit naive or that they don\u0026rsquo;t fully understand. Often, they bring a letter from secondary care and ask the family doctor to explain what it means and what the risk is.\u0026rdquo;\u003c/em\u003e P11\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThe variability in responses regarding patient inquiries about genetics suggests that while patients may occasionally be interested in genetic aspects, the overall engagement with GC remains limited.\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003ePractical challenges and applicability\u003c/strong\u003e were another significant barrier. Issues such as resource management, funding, organisation, and accessibility were frequently mentioned. There were also concerns about the clinical utility of GC in psychiatric practice, particularly regarding how it could be integrated effectively into current healthcare systems.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Well, if it were just genetic counselling where we are not going to do anything, perhaps I would leave the consultation for those cases where we can actually do something... but that, perhaps, would depend more on your side... as a matter of resource management.\u0026quot;\u003c/em\u003e P5\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Given that, so far, the world in quotes advances without any of this... probably the funding. Ah... I don\u0026rsquo;t know if it would be a priority, it would probably need to prove significant economic benefits to be funded.\u0026quot;\u003c/em\u003e P7\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Although we know that there is a very important genetic component, they do not require genetic counselling to the extent that they have an incidence determined by many other factors and, therefore, predictability is not possible. The phenotypes are not predictable, you know...\u0026quot;\u003c/em\u003e P2\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThe centralization of genetic services leads to accessibility issues, particularly for patients in remote or underserved areas.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I also think one issue is the coordination with the (genetics) services for certain psychiatric services that are isolated, you know? Even if they are sometimes, even if they are part of general hospitals, sometimes they are in peripheral buildings, you know? So, there is a certain distance.\u0026quot;\u003c/em\u003e P1\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThe \u003cstrong\u003eneed for education and guidelines\u003c/strong\u003e was a prominent sub-theme. Participants expressed a desire for more training opportunities specifically tailored to their needs, indicating a gap in current educational offerings in genetics.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026ldquo;So, we read things, but there isn\u0026rsquo;t really\u0026hellip; We don\u0026rsquo;t do internships in these areas. I mean, maybe some have done them, but it\u0026rsquo;s not very common, nor is it an area integrated into our training programme.\u0026rdquo;\u003c/em\u003e P3\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Ah yes, I can add that I would like there to be more training opportunities in genetics. The few I saw directed at family doctors, when I opened the programme, I thought it was not very focused on our daily practice.\u0026quot;\u003c/em\u003e P11\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;And what I am saying, about advising and explaining warning signs, is almost... I won\u0026apos;t say I invented it myself, but... I did not have formal training on this and I do not have a sense of the good or harm I am doing, so, no, I am doing this empirically, I confess. It is what I am saying, it is a very large specialty and we have many gaps in many areas.\u0026quot;\u003c/em\u003e P9\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eThere is a perceived gap in the integration of genetic aspects within psychiatric practice, with participants noting that genetics in this context is not often a primary focus in their daily clinical activities. Nevertheless, they all agreed on the necessity for reliable information sources and the harmonisation of practice to ensure consistent and effective implementation of PGC.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;No. My mistake, no... I usually ask about cardiovascular pathology and neoplasms. It is also a matter of time constraints and also a lack of awareness among family doctors about it.\u0026quot;\u003c/em\u003e P9\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;And, we, family doctors are constantly updating... every day new information comes out... and the psychiatry part, it gets a bit sidelined. This is without a doubt... and sometimes it is a bit difficult for us to manage this in the consultation.\u0026quot;\u003c/em\u003e P11\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;In my daily clinical practice, I do not, I do not think much about the genetic aspect of pathologies, in psychiatric pathology. No, I won\u0026apos;t say I do, because I don\u0026apos;t... I don\u0026apos;t think about it.\u0026quot;\u003c/em\u003e P8\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\n \u003ch2\u003eTheme 3: Potentialities of PGC implementation\u003c/h2\u003e\n \u003cp\u003eThe third theme focused on the perceived benefits of implementing PGC, with three sub-themes emerging. Respondents underscored the value of a \u003cstrong\u003eholistic and humanistic approach\u003c/strong\u003e to care. They noted that person-centred care, which includes GC, could help demystify and destigmatise psychiatric conditions, fostering a supportive environment for patients.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I think above all, it should have a more humanistic, empathetic, and destigmatising component. Because the idea of being able to, I imagine it is the same for any disease, but especially when we talk about psychiatric illnesses which already have so much stigma, I think some reassurance and empathy in handling these cases is crucial.\u0026quot;\u003c/em\u003e P4\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;It is important, and I often discuss with my patients the issue of susceptibility, explaining that there is a threshold beyond which the disease manifests. Some people are genetically closer to this threshold, while others are further from it. So, what we address is not the disease itself but the susceptibility to trigger that disease.\u0026quot;\u003c/em\u003e P2\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eAnother key benefit highlighted was the \u003cstrong\u003epower and value of information\u003c/strong\u003e that may be provided through GC. Participants emphasised that such information could enrich the decision-making process, empower and educate patients, and uphold the patients\u0026apos; right to receive pertinent information in an appropriate manner.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;For some people, it may be important to know. \u0026apos;If I have a child, what will the risk be?\u0026apos; I believe people care deeply about this knowledge because they do not want their children to endure the same suffering.\u0026rdquo;\u003c/em\u003e P1\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Genetic counselling, in any area, and what I know best now is in oncology, is not about telling the person \u0026apos;you have this and this will happen\u0026apos;. No. It provides information, in a context, in a certain way, which then says certain things, and eventually in the future... but it is always a probabilistic basis and therefore, in that sense, genetic counselling still makes sense, yes.\u0026quot;\u003c/em\u003e P3\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I think it has implications both diagnostic and therapeutic, as well as in the information and psycho-education we do with patients about the fears they have.\u0026quot;\u003c/em\u003e P4\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003cp\u003eFinally, the potential of GC to enhance \u003cstrong\u003epersonalised and preventive medicine\u003c/strong\u003e was again mentioned. Respondents pointed out the possibilities for risk stratification, the application of pharmacogenetics, and the implementation of preventive measures as significant advantages of integrating genetic insights into psychiatric care.\u003c/p\u003e\n \u003cdiv class=\"BlockQuote\"\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;I think it could optimise treatment because perhaps if we had genetic data, we could use drugs without so much trial and error, right? If we know someone is a slow metaboliser, a fast metaboliser... If we had this information upfront, we could probably more easily adjust treatment plans.\u0026quot;\u003c/em\u003e P3\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;The potentialities, I think, depend on what the technique allows, right? That is, if it were possible for us to take a child and with genetic evaluation, we could predict with some degree of reliability what might happen in the future, that would be a great potential, not only for us to keep informed, for people to be aware, to have regular check-ups to prevent as early as possible.\u0026quot;\u003c/em\u003e P6\u003c/p\u003e\n \u003cp\u003e\u003cem\u003e\u0026quot;Also doing research, particularly in the family, depending on the type of situation we have, most of the time they are autosomal recessive, and therefore, the type of counselling to the family, screening parents and siblings, and therefore the counselling ends up being in the sense of prevention, regarding risk situations that this genetic condition might determine.\u0026quot;\u003c/em\u003e P2\u003c/p\u003e\n \u003c/div\u003e\n \u003cp\u003e\u003cbr\u003e\u003c/p\u003e\n \u003c/div\u003e\n\u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003eThis study provides a pioneering exploration of how family physicians and psychiatrists in Portugal perceive the provision of Genetic Counselling for Psychiatric Conditions. This is an emergent field of practice of GC, but a concept not yet established in our country. We sought to understand the perspectives of these key professionals on psychiatric genetics and GC within psychiatric context, acknowledging the growing global importance of this field. By employing an exploratory qualitative framework, the study provides some first insights and hopefully sets the stage for future discussions and research in this developing field.\u003c/p\u003e \u003cp\u003eSimilarly to results found elsewhere (Finn et al., \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2005\u003c/span\u003e; Zhou et al., \u003cspan citationid=\"CR54\" class=\"CitationRef\"\u003e2014\u003c/span\u003e), our data suggests that psychiatrists and family physicians view genetic information as clinically relevant but have limitations of knowledge that may impact the incorporation of psychiatric genetics into clinical practice. Many interviewees found challenging to fully grasp the broad objectives and benefits of GC interventions. The association of GC primarily with the provision of information about genetic testing and recurrence risks was common, while relevant tasks and goals of GC consultations were largely unknown. Given that genetic testing for psychiatric conditions is not routinely available in clinical practice, the immediate demand for GC in this area may be perceived as low. Unsurprisingly, the availability and mainstreaming of genetic testing seem to influence how GC is perceived and utilized.\u003c/p\u003e \u003cp\u003eA recent study examining the major obstacles to implementing PGC and genetic testing across European countries revealed that professionals identified the lack of guidelines and education as significant barriers (Koido et al., \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). Our findings echoed these concerns, with interviewed professionals emphasizing the need for specialized training and clearer guidelines on how to integrate genetic knowledge into their practice. As genetic medicine becomes more integrated into primary and secondary care, the urgency for physicians to develop genetic literacy is growing. Although the importance of genetics is increasingly recognized, particularly with the advent of personalized medicine, the integration of this field into medical education is likely uneven across training institutions in the country. Assessing the extent and depth of genetic content in medical curricula and establishing clinical competencies in genetics and genomics, tailored to different professional backgrounds, would be valuable steps towards aligning Portuguese medical education more closely with European standards (ESHG, \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2009\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eParticipants in this study highlighted the need for a holistic and humanistic approach in a potential PGC service, fostering a supportive environment for patients. Like other sub-specializations within GC, PGC requires additional professional competencies, particularly in tailoring the counselling process to address the unique emotional and psychological complexities of psychiatric conditions. Stigma surrounding mental illness remains \u0026ldquo;the main obstacle to the provision of care for people with mental disorders\u0026rdquo; (Bennett et al., \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e2008\u003c/span\u003e; Sartorius, \u003cspan citationid=\"CR47\" class=\"CitationRef\"\u003e2007\u003c/span\u003e). Participants in this study were acutely aware of this challenge, recognizing its perpetuation not only among patients and their families but also within the healthcare community. This underscores the persistence of the issue and the importance of taking it into consideration. Austin (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2020\u003c/span\u003e) provides a comprehensive 'Manual for Psychiatric Genetic Counselling,' serving as an essential professional resource to ensure that PGC is evidence-based and appropriately adapted to this context.\u003c/p\u003e \u003cp\u003eIn Portugal, most genetic services are integrated into tertiary care located in major cities like Lisbon, Porto, and Coimbra, necessitating referrals to centralised services and creating some barriers to access (Costa et al., \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). In our study participants highlighted the practical challenges of coordinating care across distances, leading to delayed or fragmented service provision in this specific context. We believe that adopting multidisciplinary team systems could mitigate current issues of fragmentation by fostering strong relationships and effective communication among team members, while also incorporating patients\u0026rsquo; choices, views, and psychosocial factors into decision-making processes. Broader national implementation of sub-specialized services like PGC would require a strategic shift towards a more collaborative and multidisciplinary approach (Costa, Silva, et al., \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e2024\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe recognition of genetic counsellors\u0026rsquo; profession and their integration into the Portuguese healthcare could enhance the availability of genetic professionals and support the provision of comprehensive care, as for instance in the often-overlooked field of PDs (Slomp et al., \u003cspan citationid=\"CR50\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Genetic counsellors, with specialized skills and training, are well-positioned to address these gaps. However, the lack of formal recognition of the profession in the country limits their ability to contribute effectively and delays the expansion of their roles into new areas and sub-specialties where their expertise can be an added value (Lungu et al., \u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e2024\u003c/span\u003e). Additionally, recent national discussions among experts have pointed out the need for reforming medical genetics services and education, to better prepare future healthcare professionals for the challenges of integrating genetics into routine clinical care (Costa, Guimar\u0026atilde;es, et al., \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2024\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eAssessing the readiness for the implementation of PGC is indeed a complex task, and our data alone cannot provide a comprehensive evaluation. However, it appears that Portugal is still navigating certain fundamental challenges in genetic healthcare provision, which may indicate that the healthcare system might not yet be fully equipped to invest in sub-specialized services like PGC. While the enthusiasm among psychiatrists and family physicians to learn and have PGC alongside their care practice is encouraging, the necessary groundwork seems to have not yet been laid. It will require a concerted effort across multiple domains, including education, policy, and service delivery. By continuing to explore and address these challenges, the path toward effective and widespread implementation of PGC in Portugal can become clearer and more attainable.\u003c/p\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eStudy Limitations\u003c/h2\u003e \u003cp\u003eOne of the limitations of this study is the potential self-selection bias among participants. Those who volunteer to participate may already have a heightened sensitivity or interest in the topics of genetics and genetic counselling. As a result, their views and attitudes may not be fully representative of the broader population of psychiatrist and family physicians in the country.\u003c/p\u003e \u003cp\u003eResponse bias is another potential limitation of this study. Participants might have provided answers they deemed more socially acceptable or expected, rather than their true beliefs and attitudes. This could affect the authenticity and reliability of the findings.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec14\" class=\"Section2\"\u003e \u003ch2\u003eFurther research on this topic\u003c/h2\u003e \u003cp\u003eAs for the next steps in research, a more comprehensive evaluation of the readiness for PGC implementation is essential. Future studies should aim to include the perspectives of medical geneticists, who are crucial stakeholders in this field. Additionally, exploring the needs of patients, particularly those who might benefit most from PGC, could provide valuable insights into how services should be structured. Evaluating the depth and breadth of genetic content in medical curricula, alongside establishing clinical competencies tailored to various healthcare backgrounds, will be essential for aligning Portuguese medical education with European standards. Moreover, policy analysis will be vital in identifying both enablers and barriers within the healthcare system that could impact the successful implementation of PGC. By addressing these aspects, future research can support the development of a robust, patient-centered approach to PGC in Portugal.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis study offers an initial exploration into the perceptions of family physicians and psychiatrists in Portugal regarding the role of genetics and the potential for GC in the context of psychiatric illnesses. Results show that while the importance of genetics in PDs is acknowledged, there is low literacy about GC practice from the professional groups interviewed.The availability and mainstreaming of genetic testing seem to influence how GC is perceived and utilized. Additionally, there is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare.A holistic and patient-centred approach is considered essential in managing PDs and, by extension, in PGC, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate PGC into their patients\u0026rsquo; care, it seems that certain fundamental challenges persist in genetic healthcare provision.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors thank the Portuguese Association of General and Family Medicine (APMGF) and the Portuguese Association of Child and Adolescent Psychiatry (APPIA) for facilitating the distribution of study information to potential participants. The authors also wish to warmly thank the research participants for providing their valuable perspectives and experiences.\u003c/p\u003e\n\u003cp\u003eCompeting interests: The authors declare that they have no conflict of interest. This article does not contain any studies with human or animal subjects performed by the any of the authors.\u003c/p\u003e\n\u003cp\u003eEthics approval: The study was approved by the Committee for Ethics and Responsible Conduct in the research of the Institute for Research and Innovation in Health (Appraisal N20/CECRI/2023).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor\u0026rsquo;s contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eConceptualization: BR, MP; methodology: BR, MP; formal analysis and investigation: BR, MP; writing - original draft preparation: BR; writing - review and editing: BR, RM, MP; resources: BR, AS, IHM, , MP; supervision:, RM, MP.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eAlmeida J, Xavier M, Cardoso G, Gon\u0026ccedil;alves Pereira M, Gusm\u0026atilde;o R, Correa B, Gago B, Talina J, M., Silva J (2013) Estudo Epidemiol\u0026oacute;gico Nacional de Sa\u0026uacute;de Mental. 1. o Relat\u0026oacute;rio. 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Psychiatr Genet 24(3):94\u0026ndash;101. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1097/YPG.0000000000000030\u003c/span\u003e\u003cspan address=\"10.1097/YPG.0000000000000030\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"psychiatric genetic counselling, healthcare provision, qualitative research","lastPublishedDoi":"10.21203/rs.3.rs-5160433/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5160433/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eGenetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists\u0026rsquo; perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients\u0026rsquo; care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country.\u003c/p\u003e","manuscriptTitle":"Genetic Counselling for Psychiatric Conditions: exploring current perceptions of family physicians and psychiatrist in Portugal","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-12-24 16:24:34","doi":"10.21203/rs.3.rs-5160433/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2024-11-30T07:40:43+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-10-21T20:14:16+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"107906182552490914066591110417877117303","date":"2024-09-27T12:27:39+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"39577231246468792253989137840012049517","date":"2024-09-27T09:05:26+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2024-09-27T08:53:30+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2024-09-27T00:33:06+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2024-09-27T00:32:10+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Community Genetics","date":"2024-09-26T17:30:36+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"26e5bb11-90b7-4ef4-b8f8-fa327214d3e7","owner":[],"postedDate":"December 24th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2025-02-24T16:55:49+00:00","versionOfRecord":{"articleIdentity":"rs-5160433","link":"https://doi.org/10.1007/s12687-025-00774-7","journal":{"identity":"journal-of-community-genetics","isVorOnly":false,"title":"Journal of Community Genetics"},"publishedOn":"2025-02-19 15:57:24","publishedOnDateReadable":"February 19th, 2025"},"versionCreatedAt":"2024-12-24 16:24:34","video":"","vorDoi":"10.1007/s12687-025-00774-7","vorDoiUrl":"https://doi.org/10.1007/s12687-025-00774-7","workflowStages":[]},"version":"v1","identity":"rs-5160433","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5160433","identity":"rs-5160433","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}