Exploring individuals' experiences with self-reported unmet need for genetic testing.

In practice, healthcare systems and insurers determine that there is “need” for genetic testing when there is potential for clinical utility. However, it is not currently known how the public understands the need for genetic testing and if this aligns with clinical utility. We recruited participants in Canada through a survey distributed through a market research company (Leger Opinion Panel). Participants who self-reported the need for genetic testing were then purposively sampled to complete a semi-structured virtual interview. We used an interpretive description approach and reflexive thematic analysis. We completed 19 interviews and found that participants’ self-identified need for genetic testing was informed by their experiences with genetic information and the perceptions that genetic information is actionable (clinical utility) and has personal meaning (personal utility). Most participants would not be eligible for funded testing based on their personal and family history, however, they had unmet informational and psychological needs, indicating unmet need for genetic counseling. The public understanding of the need for genetic testing is complex and varied. Participants identified many benefits resulting from genetic testing which are not reflected in how need is operationalized in reimbursement decisions, however unmet expectations for testing contributed to medical distrust and dissatisfaction. Subject terms: Genetic testing, Genetic counselling

Personalized medicine is an individualized approach for treatment and prevention that incorporates the variability in genes, environment, and lifestyle to improve patient health and well-being [1]. High expectations for the promise of personalized medicine have driven the expansion of the use and availability of genetic testing over the last 20 years which has created challenges for determining the appropriate use of genetic testing [2, 3]. There is no consensus on how to define or measure “need” for genetic testing. However, in practice, healthcare systems and insurers typically determine that “need” is present for - and therefore fund or reimburse - genetic testing if there is the potential for clinical utility (e.g. impact on medical management, including changes to screening, surveillance, treatment, or decision making about an ongoing pregnancy) [4–7]. In cases where the potential for clinical utility is not clear, patients may choose to pay out of pocket for the genetic test or to not receive the test [5, 6, 8, 9]. In many ways, this is a justifiable approach, because it allows for flexibility based on clinical judgment (an important consideration for many rare and heterogeneous conditions for which genetic testing may be warranted), while managing spending in a healthcare system that balances many priorities. For context, >60% of Canadians have extended health insurance plans (through employers, group, or privately), some of which have coverage for genetic testing. However, extended health benefits are designed to provide coverage for care that is not provided through the public healthcare system, and is therefore typically limited to specific contexts like pharmacogenomics testing or prenatal screening tests (which are often not deemed “medically necessary”). Additionally, in the case of genomic medicine, there may be important benefits for patients and families that are not captured by only considering clinical utility. These relate to personal utility (i.e. non-medical perceived benefits that can arise from receiving genetic information, typically through genetic testing, including increased self-knowledge, coping, and altruism) [10–12]. Patients and families report that genetic testing has personal utility even in situations where the genetic testing does not lead to a diagnosis or would otherwise have very limited or no clinical utility [11, 12]. Although the personal utility of genetic testing has been previously studied, the concept of what constitutes “need” for genetic testing has yet to be explored from the perspective of the public. The aim of this study was to explore peoples’ experiences with self-identified unmet need for clinical genetic testing, understand what contributes to perceiving this unmet need, and assess how this aligns with the conceptualization of need in the public healthcare system. Methodology We conducted a qualitative study (guided by interpretive description and reflexive thematic analysis (RTA), where we interviewed individuals about their experiences with unmet need for genetic testing. This research is situated within an interpretivist paradigm, with the understanding that there are multiple subjective realities, knowledge is subjective, contextual, and constructed, and that the researchers have an active role in contributing to meaning-making within the research [13]. We have followed the COREQ reporting checklist and the RTA Reporting Guidelines [14, 15]. There is a significant overlap between the principles of interpretive description and RTA, increasing the methodological cohesion of combining these approaches. We used an interpretive description approach for the study design and to guide the development of a conceptual model [16, 17]. RTA was used to inform the data collection and analysis procedures [15]. Themes that are developed using RTA are typically more descriptive in nature, and interpretive description was used to extend the interpretation of the themes to the applied evidence stage that can be used to guide health policy and practice [16, 18]. This research was approved by the University of British Columbia Research Ethics Board (H22-01827). Positionality KB is a PhD candidate and board-certified genetic counselor, with training in health services and systems research. She is a White settler and a cisgender, able-bodied, woman. Her positioning was shaped by her clinical training in genetic counseling, and her fellowship in health systems and services research. KB has never sought or received genetic testing, however, some of her family members have received genetic testing. LL is a professor and pharmacist with expertise in epidemiology and health outcomes research and he is a White settler and cisgender man. His positioning is informed by his experience conducting research and shaping policy in the context of a publicly funded healthcare system. JA is a board-certified genetic counselor and a first-generation White settler. JA’s perceptions of and interactions with the publicly funded healthcare system have been both driven and shaped by seeking help for physical disability, depression, and anxiety, and shaped by the experience of being an agender person with female anatomy. JA has never sought or received any genetic testing. Participants and recruitment We recruited participants through a Canadian-based market research company (Leger Opinion Panel). Participants were initially invited to complete a survey about the unmet need for clinical genetic services and they were asked if they were open to being contacted for a follow-up interview. Research about the survey findings has been previously published [19]. To be eligible, participants were required to: i) be over the age of 18; ii) be able to complete the interview in English by Zoom or telephone; iii) have indicated in their survey responses that they had self-reported unmet need for genetic testing. We used purposive selection methods to maximize diversity in the interview sample on the dimensions of race, gender, age, province of residence, type of reported unmet need, and health conditions of concern. Potential participants were invited by email and were contacted a maximum of three times. There were no pre-existing relationships between the participants and the study team. The recruitment process is summarized in Fig. 1. Data collection The semi-structured interview guide (Supplementary Materials) was developed by the study team, informed by a review of the literature and further refined based on new insights that arose through the survey responses. We used an existing Subjective Unmet Need framework by Allin et al. in the development of the interview guide to inform the development of questions to assess different subtypes of unmet need for genetic services [20]. We conducted one-on-one interviews via Zoom or telephone according to the preference of participants. All interviews were audio recorded and transcribed verbatim using an institutionally approved AI-based transcription service (Temi) and then manually checked for accuracy. The transcripts were not returned to the participants for comments or corrections. All interviews were conducted by the first author (KB). During and after the interviews, KB used memoing to reflect on the content and experiences of conducting the interviews. Prior to starting the interview recording, the participants were informed that KB was a genetic counselor and PhD candidate. Data collection occurred from February to May 2024. Data analysis Data collection and analysis occurred concurrently as is common with interpretive description and RTA [15, 17, 21]. In addition to the authors’ experiences with genetic counseling and health outcomes and evaluation research in the Canadian context, the Subjective Unmet Need framework described by Allin et al. was also used as a frame of reference for data analysis [20]. For analysis, we used an inductive coding approach beginning with data familiarization. KB reviewed each transcript 2-3 times and created short summaries of the interviews, then used open coding, where data were categorized into similar concepts and labeled with descriptive codes to capture the explicit content of the data (semantic). Through a series of meetings with LL and JA, the codes were iteratively revised as needed and expanded to develop latent codes [16, 22]. Axial coding was conducted to identify relationships between the codes and group them into broader categories. As is consistent with RTA, no formal codebook was developed. Themes were developed from these broader categories. This involved constant comparison to help refine and develop theoretical constructs [22]. KB also conducted member checking where two participants provided feedback on the conceptual model. These participants were selected because they had varied experiences with unmet need for genetic testing and because they had consented to being recontacted for the purposes of member checking. The participants reported that they could locate their experiences within the conceptual model and suggested minor wording changes to improve comprehension. Coding was conducted in Microsoft Word and Excel, and Canva was used to develop the conceptual model figure. We used the concept of information power to determine the recruitment end-point, which more holistically considers the quality and richness of data beyond the number of participants. Using the dimensions outlined by Malterud et al. we had a narrow study aim, broad sample specificity, used established theory in our analysis, and had a high-quality of dialogue and analytic strategy [23]. We assessed the data sufficiency periodically and determined that we had adequate information power after 19 interviews. Clinician-validated unmet need for genetic counseling and testing We used clinician-validated unmet need to assess whether participants’ self-reported unmet need for genetic testing aligned with health systems definition of need for genetic testing that is based on the potential for clinical utility (i.e. changes to medical management) [20]. To operationalize this definition, we determined that a clinician-validated unmet need for genetic testing was present for participants who may be eligible for publicly-funded genetic testing based on their self-reported personal and family history. If a participant reported a history of a suspected genetic condition during the interview, KB would ask targeted family history questions to allow us to assess eligibility for funded genetic testing. This assessment was guided by the principle that genetic testing would potentially be funded in cases where it could impact medical management, excluding for purposes of preconception family planning and for psychological or informational purposes only, which broadly reflects the funding strategy for genetic and genomic testing across Canada [6]. When the reported family and personal history indicated that the individual could meet the criteria for funded genetic testing, KB referred to publicly available referral guidelines for the appropriate province. In the few cases where this was identified, KB provided resources to the participant, either the referral form for the relevant clinic or the link to the Canadian Association of Genetic Counselors - Find a Genetics Clinic Tool website (https://www.cagc-accg.ca/?page=225). Clinician-validated unmet need for genetic counseling was determined through an assessment of participants’ self-reported need and if they aligned with the psychotherapeutic goals of genetic counseling [24]. Participants were classified as having a clinician-validated unmet need for genetic counseling if they reported unmet psychological or informational needs related to a condition that: (1) they had or that runs in their family, and (2) involves some level of genetic contribution.

We conducted 19 interviews and participant demographics are in Table 1. The interviews ranged in duration from 19–67 min. The conceptual model captures the factors contributing to why people had self-reported unmet need for genetic testing and the perceived outcomes they attributed to genetic testing (Fig. 2) and illustrative quotes are included in the text below. We found that individuals’ experiences with unmet need were shaped by the following themes: understanding genetic information, the expectation that genetic information is useful, genetic information has personal meaning, perceived benefits and outcomes of genetic testing, the discordance between self-reported unmet need and clinician-validated unmet need for genetic testing, and the impact of unmet expectations. Table 1. | Age range (years) | | | 19–30 | 5 | | 31–40 | 3 | | 41–50 | 6 | | 51–60 | 3 | | >61 | 2 | | Race | | | Black | 1 | | Chinese | 1 | | East Asian | 1 | | South Asian | 1 | | West Asian | 1 | | White | 14 | | Province of residence | | | BC | 2 | | AB | 3 | | SK | 1 | | MB | 2 | | ON | 8 | | QB | 2 | | NB | 1 | | Gender | | | Woman | 9 | | Man | 10 | Understanding genetic information Participants’ perceptions of the unmet need for genetic testing were informed by their understanding of and exposure to genetic testing, which was influenced by movies and media. “there’s a lot of media now about these things… diagnosing stuff in humans in very simple ways. And, you know, you read about things like 23andMe, and you know, you can send a sample of your saliva in the mail and they can tell you what you have. And, you know, I’ve also read that AI now is able to sort of diagnose things that people may have otherwise not known about.” (P717) Participants also described familiarity with or having accessed direct-to-consumer genetic testing. This exposure to commercial genetic testing contributed to the perception that most health conditions have a genetic basis and that genetic testing can be useful for a variety of types of health conditions. Participants were also asked about their awareness and understanding of genetic counseling and they had no or limited experience with genetic counseling and could not describe the differences between genetic testing and genetic counseling. When prompted, participants described potential harms or downsides of genetic testing, but they tended to consider these from a societal perspective (e.g. the impacts of eugenics and misuse of genetic information), or as things that may impact other people, and would not impact their own personal decisions to pursue genetic testing. “You could start tailoring things to attack certain ethnic populations, and that’s kind of spooky or even get more specific the more you know about the genetics of things. So that could be a very scary kind of result that could happen. I mean, so hopefully people decide we shouldn’t play with stuff like that.” (P104) Expectation that genetic information is useful Participants described needing genetic testing for conditions that they had or that ran in their families. The reasons for self-reporting unmet need are outlined in Table 2. Participants had expectations that genetic information could almost always lead to tangible actions including changes in treatment/screening protocols, access to other healthcare interventions, as well as informing lifestyle changes like a healthier diet and being more active, or preparing for the onset of a future disability. Some participants described how despite knowing that their family history increases their risk for developing certain conditions, having information from genetic testing would be needed to prompt them to make lifestyle changes to protect their health. “I know there’s a history of Alzheimer’s and heart disease in my family… If I’m found to be more susceptible to say to a heart disease, definitely I would have to change my lifestyle in order to prevent any sort of heart problem.” (P55) Table 2. | Main reasons for self-reporting need for genetic testing (each row indicates a different participant) | | Interest in ancestry information, no specific health needs | | No personal history concerns Family history of ovarian cancer and lung cancer | | Personal history of orthopedic condition Family history of Alzheimer disease, Huntington disease, difference of sexual development | | Personal history of asthma, allergies, eczema Family history of asthma, allergies, eczema | | General curiosity/information seeking for health promotion | | Personal history of ADHD, specific questions about medication efficacy for ADHD Family history of ADHD | | Personal history of behavioral and neurodevelopmental conditions (ADHD) Family history of ADHD Unknown history for son due to conception through rape | | Personal history of mental health condition Unknown family history due to adoption | | Personal history of Type I diabetes Unknown family history due to war and diaspora | | Personal history of colon cancer Family history of spinal muscular atrophy, epidermolytic ichthyosis, and cancer, also interested in ancestry for genealogy purposes | | Personal history of neurodevelopmental condition Family history of schizophrenia, other neurodevelopmental and mental health conditions | | Personal history of multiple sclerosis and mental health concerns, also questions about medication efficacy | | Personal history of mental health conditions Family history of autoimmune conditions (lupus, juvenile arthritis) and mental health conditions and gaps in family history due to adoption | | Personal history of polycystic ovarian syndrome Family history of polycystic ovarian syndrome | | Personal history of hypothyroidism and anxiety Family history of hypothyroidism and anxiety | | Personal history of endometriosis, questions about pharmacogenomic testing for depression medications Family history of endometriosis | | Family history of colon cancer/possibly Lynch syndrome | | Family history of posterior cortical atrophy | | Family history of Alzheimer disease and heart disease | Another way that participants conceptualized genetic information as being useful was by providing access to additional healthcare interventions or social supports through clarifying a diagnosis or legitimizing symptoms. These participants described feeling dismissed or not taken seriously by the healthcare system and felt that genetic testing could be useful for self-advocacy. “I always knew it was something serious, but was never, I was never diagnosed with anything. I guess nobody really took my pain seriously.” (P536) Genetic information has personal meaning In addition to the expectation that genetic testing is useful, genetic information also had personal meaning for participants and could play a key role in understanding disease and identity within a family. “Genetics is like your core being, you know, so it’s what you’re made of, it’s who you are.” (P368) Participants described gaps in their knowledge of their family histories due to a variety of factors like adoption, estrangement, rape, war and diaspora, and trauma. “Well actually, I’m adopted, so I have no idea what my medical history is like. So genetic testing would be really helpful to know what I’m susceptible to” (P315) These gaps were seen as significant for understanding health risks, but also for understanding one’s identity and sense of self. [previously described family experiences with war and loss of extended family members] “It’s more to find out about the family and to find out where they are, if they still exist, even anything like that” (P85) Participants also described how they had already integrated genetics into their understandings of conditions they had, and how genetics was core to their family held health beliefs. “I feel like anxiety runs in my family as well, but I come from a culture that doesn’t recognize anxiety, but I see in my parents . So I feel like that was something that might’ve been passed on.” (P500) Understanding the genetic contribution to a condition was also seen as a way to facilitate psychological coping, by reducing the guilt participants felt associated with lifestyle or environmental factors that contribute. “I don’t want to say it would justify things, but it probably wouldn’t make me feel so bad about myself for past things. It’d be like, hey, you know what? We’re all lemons… maybe to give myself a little bit of grace, forgive myself or just to say, it is what it is” (P1588) Perceived benefits and outcomes Participants also perceived a variety of benefits and outcomes that could occur from genetic testing, these are listed with illustrative quotes in Table 3. Table 3. | Expected outcome | Quotes | |---|---| | Understanding causes of illness | “Nobody else has diabetes, I’m the only one. And that’s a really good thing, actually. But I would like to know you know, where’d that come from? Why me? So that’s maybe a personal, selfish reason…. the scariest thing in the world is not knowing who you are.” (P85) | | Psychological coping with the condition | “I think it’s about understanding, but it might make me feel like, like it it’s not my fault” (P315) | | Improve family communication | “I think it would help because at least there could be more of a discussion of, hey, this runs in the family, and they’d be like, OK, well, I’ll go get myself tested” (P153) | | Family planning | “Yeah, he’s 24 now… when I’m thinking about genetic testing, the reason I had the interest there was that I was thinking like, if there’s something I would’ve known that I would’ve potentially passed on to any offspring that I might have, knowing with certain things that I had… I might have decided not to have a child. I’m not saying that I don’t wish him or anything, but yeah, I wish I’d known that kind of information and because it would’ve helped me make a choice” (P368) | | Legitimize symptoms | “But if you had a genetic testing component that said, yeah, this person actually has this condition, then that would settle a lot of the debate because I think a lot of the stigma is, like people are saying, “oh, you just can’t handle your kids.” (P104) | | Make healthy behavior changes | “I would try to see if there’s anything I can do to decrease the risks of that condition manifesting. I would talk to my doctor about it. I would probably read about it, see if I need to eat healthier or exercise more or something along those lines.” (P969) | | Life planning | “There would be things that you’d do differently. You might buy a place that’s flat on the ground instead of on a hill, [laughs] things like that, you know? Or you might you might have bought a house that has 36-inch doors rather than a 32-inch door, because you’re going to need a walker eventually.” (P271) | | Aid in decisions about medication | “The service I was looking at was offering genetic analysis to see if the medication I was taking was the appropriate one for me” (P536)“I have ADHD and I’ve read some things that have suggested that perhaps genetic testing would allow you to better pick effective medications to deal with the symptoms.” (P104) | | Informing screening | “it helps your doctor or It helps the professionals decide if they should see you more often… it is important, just because I don’t have a tumor today, it doesn’t mean that I won’t next year.” (P153) | Clinician-validated unmet need Based on the reality of what is possible from testing in relation to the conditions reported, genetic testing was clinically indicated for very few of the participants. Specifically, most participants felt they needed genetic testing for multifactorial conditions, where testing either is not available or would have no/low clinical utility (i.e.: polygenic risk scores for common complex conditions). There were a few instances where participants reported having a rare condition in their families that had led to genetic testing for another family member. These participants likely would have been eligible for publicly-funded cascade genetic testing at an earlier point in their lives (i.e. when testing could have led to changes in reproductive planning), but at the time of interview, this was no longer relevant. There were also two participants with a family history of breast and/or ovarian cancer occurring at a young age (<40 years old in a female relative). For these participants, the family is likely eligible for publicly funded genetic testing, but the participant in this study did not appear to be the most suitable proband for testing initiation in either case. Though the expected benefits and impacts that participants described rarely matched an be achieved through genetic testing, they did largely align with the benefits that can be realized through genetic counseling. Participants were assessed to have an unmet need for genetic counseling if they described unmet cognitive or psychological needs that could not be met through information alone. Examples of these unmet needs include concerns about passing on or inheriting genetic risk factors, the desire to better cope with having a condition that runs their family, discussions of guilt, blame, stigma, or shame about having a condition in themselves or their family, or misinformation about genetic risks (e.g.: due to perceptions of consanguinity or over attribution of heredity of a multifactorial condition). Impacts of unmet expectations Although genetic testing would not be clinically indicated for most of the participants in this study, participants described the sense that they were missing out on a valuable healthcare intervention that could improve their health or wellbeing. These unmet expectations for genetic testing contributed to medical distrust and dissatisfaction with the healthcare system. This demonstrates that even though these participants were receiving the appropriate level of healthcare by not having genetic testing, unmet expectations can lead to actual harm. “The patient [should decide if they need genetic testing] … The doctor, a lot of them unfortunately may act like they know it but hey, you saw it in a five-hour lecture once in med school. You don’t know what this person’s going through. So, I wouldn’t even trust them to give an opinion on it.” (P879) “It’s just trying to get people to listen to me to get the testing done. It’s just so frustrating.” (P35)

This study sought to understand what leads individuals to self-identify as having unmet need for genetic testing and determine if self-reported unmet need for genetic testing is aligned with the healthcare system operationalization of need for genetic testing. Participants had very high expectations for genetic testing, including perceiving a high degree of actionability and a vast array of benefits that they attributed to genetic testing. These expectations were informed by current (mis)understanding of genetic information, exaggerated portrayals of the effectiveness of genetic testing in movies and television, celebrity stories of accessing genetic testing, and exposure to direct-to-consumer tests. Many of the expected benefits reflected the concept of clinical utility, where participants felt that genetic testing could have a direct impact on their medical care by clarifying a diagnosis or leading to changes in treatment or screening. However, most participants self-reported unmet need for genetic testing for a multifactorial condition, where genetic testing may not exist, or if there is a genetic test (i.e.: polygenic risk score tests), then the results would not likely have substantial clinical utility since they would explain a small portion of the overall risk factors involved in developing a condition. This mismatch between the perceived and actual clinical utility of a genetic test shaped the participants views of genetic testing and the healthcare system as a whole. There was a sense that participants felt that the healthcare system was withholding genetics healthcare, leading to dissatisfaction and contributing to distrust in the healthcare system. Previous studies have demonstrated low genomic literacy in the population and have advocated for more public health education around these topics. One study found that only 57% of the American public were aware of the use of genetic testing in a medical context and another study found low levels of genetic literacy and low self-confidence in genetic literacy [25, 26]. Also in keeping with previously published literature, there was low awareness of genetic counseling in our study population [27]. Participants self-reported unmet need for genetic testing when they had unmet psychological and cognitive needs for genetic information, and due to a lack of familiarity with genetic counseling, they were misattributing these to unmet need for genetic testing. Our results show a gap that could be filled through public health education for genetic testing, particularly with a focus on the limitations of genetic testing in the current healthcare context to help address the distrust and dissatisfaction present from not receiving genetic testing. Many of the other benefits reported by participants reflect the concept of personal utility (i.e. perceived non-health benefits) arising from receiving genetic testing [11]. This concept has been previously described as a way to capture the full spectrum of benefits that are possible from the provision of genetic information [10, 12, 28, 29]. In our study, participants reported many different ways in which genetic information had personal meaning. There are previously described dimensions of personal utility that overlap with this concept, such as helping to cope with health risks and increasing self-knowledge (which captures the cognitive and affective impacts of receiving genomic information) [11, 28]. However, the findings in our study were more explicitly focused on the perceived role of genetic information in understanding identity and providing an “evidence-based” explanation for why people are the way that they are. The value of genetic information for adoptees in identity formation has been previously reported, but our study found the same phenomenon among individuals who were not adopted - many of whom had significant gaps in their knowledge of their family histories due to war, trauma, and complex family dynamics [30, 31]. These gaps in family history were seen as important for understanding risks for health conditions but also for understanding the self. Future work seeking to describe and evaluate the personal utility of genetic information could explore the concepts of identity further to determine if these concepts could be included in scales assessing personal utility. Using the clinician-validated unmet need approach, the majority of individuals who self-reported unmet need for genetic testing would not be eligible for publicly funded genetic testing. This was largely due to the limited or non-existent clinical utility of genetic testing for multifactorial conditions. However, benefits that participants reported perceiving to be associated with genetic testing in these situations can be actualized through genetic counseling, such as: increased coping, improving family communication, legitimizing symptoms, informing family planning decisions, and leading to healthy behavior changes. Additionally, participants described experiencing emotional distress (e.g. feelings of guilt, shame, stigma, worry, and difficulties with uncertainty) about conditions that they had, or that run in their family. Even in the absence of genetic testing with clinical utility, genetic counseling could be an effective intervention to improve patient outcomes related to emotional distress for these individuals. Genetic counseling for multifactorial conditions has been shown to improve patient outcomes like empowerment, self-efficacy, knowledge, risk perception, worry and distress [32–36]. However, in part due to the growing clinical utility of genetic testing, many tertiary care genetics clinics in Canada are prioritizing access to care for patients where genetic testing could be warranted. People referred to genetics clinics for genetic counseling for multifactorial conditions often face multi-year wait lists, or eligibility criteria through which they are excluded, even in situations where genetic counseling is the appropriate intervention based on clinician assessment. This highlights a gap in care for individuals who could benefit from genetic counseling for multifactorial conditions. Without changes to the delivery systems for genetics healthcare this gap will persist [3, 37, 38]. There have been discussions about whether the public healthcare system or insurers should consider outcomes beyond concrete health outcomes in funding decisions for genetic testing [28, 29, 37–39]. In our study, one of the themes was that genetic testing was perceived as being able to provide evidence as a meaningful motivator for health behavior changes like improved diet and exercise. Previous research has been mixed about the effectiveness of genetic testing on behavior change, providing genetic information in the context of genetic counseling has demonstrated positive health behavior changes [32, 40–45]. Although facilitating positive behavior change has been broadly endorsed as a goal of genetic counseling, some studies have questioned whether the reality of clinical practice supports those outcomes and whether genetic counselors feel ready and able to facilitate behavior change [24, 46]. It is possible that there are dimensions of “personal utility” that could lead to positive health behavior changes for patients and families and although this still may not reflect the threshold of “clinical utility” it demonstrates that genetic information paired with genetic counseling could lead to positive changes in concrete health outcomes, which could be more compelling to fund as part of the public healthcare system. It is also important to consider these findings in the context of the current capacity of the clinical genetics workforce to deliver patient care and if there are any service delivery models that could be implemented that would allow for the delegation, automation, or reallocation of tasks to support genetic counselors in working at the top of their scopes of practice [47–49]. Some examples of this could include mainstreaming genetic testing or using chatbots so that genetic counselors could potentially be more available for supporting patients who could expereince “personal utility” resulting from genetic information. Addressing the gaps in care for genetic counseling and genetic testing will likely require a combination of service delivery models and health technologies to appropriately meet the need for clinical genetic services in Canada.

The goal of this study was to recruit a sample that was reflective of diverse perspectives present in the Canadian public. However, there may be additional perspectives that were not included in our study due to our recruitment methods because we recruited individuals through a market research company. Our sample was diverse across many dimensions, however, there were sociodemographic characteristics that were limited in our sample including non-binary gender identities and some racial identities. Additionally, we only conducted interviews in English given resource and language considerations within the team. We used self-reported need for genetic testing as the main inclusion criterion for the study and we did not require validation through medical records to confirm the diagnoses, this could have impacted the accuracy of the clinician-validated unmet need assessment.

Self-reported unmet need for genetic testing captures a variety of unmet healthcare needs, many of which are unlikely to be addressed through genetic testing. Because of this, using self-reported unmet need is not an appropriate way to estimate the prevalence of unmet need for genetic testing in a population. However, many individuals who reported unmet need for genetic testing had psychological and cognitive needs related to a condition in their families, indicating unmet need for genetic counseling. Perceptions of unmet need were informed by high expectations about the personal and clinical utility of genetic testing, and increased genomic literacy through public health education could help address this mismatch in expectations and increase public acceptance and awareness of genetic testing and counseling. Supplementary information

The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded and ancestral territory we have the privilege of working. The authors thank Kehna Yip for her feedback on earlier versions of the conceptual model figure. Author contributions Kennedy Borle: conceptualization, methodology, formal analysis, investigation, writing – original draft, writing – review & editing, project administration, funding acquisition. Larry Lynd: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. Jehannine (J9) Austin: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work. Funding Kennedy Borle was supported by a CIHR Banting and Best Doctoral Fellowship and received additional funding from the BCCHR Brain, Behavior, and Development Trainee award and the UBC Public Scholar Initiative to complete this research. JA was supported by BC Mental Health and Substance Use Services. The funders had no role in review or approval of the manuscript. Data availability The data from this study will not be made available to protect the confidentiality of the participants. Competing interests Kennedy Borle, Jehannine (J9) Austin, and Larry Lynd declare that they have no conflicts of interest to disclose. JA is currently the Editor-in-Chief of the Journal of Genetic Counseling and President of the International Society of Psychiatric Genetics. Ethics Informed consent was obtained from all participants in this research study. This study was approved by the University of British Columbia Research Ethics Board (Certificate H22-10827). Footnotes Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Supplementary information The online version contains supplementary material available at 10.1038/s41431-025-01838-5.

- 1.National Institutes of Health. Precision Medicine. https://www.genome.gov/genetics-glossary/Precision-Medicine. Date accessed: 2025. - 2.Ramaswami R, Bayer R, Galea S. Precision medicine from a public health perspective. Annu Rev Public Health. 2018;39 10.1146/annurev-publhealth-040617-014158 [DOI] [PubMed] - 3.Dragojlovic N, Kopac N, Borle K, Tandun R, Salmasi S, Ellis U, et al. Utilization and uptake of clinical genetics services in high-income countries: A scoping review. Health Policy. 2021;125:877–87. 10.1016/j.healthpol.2021.04.010 [DOI] [PubMed] [Google Scholar] - 4.Borle K, Kopac N, Dragojlovic N, Rodriguez Llorian E, Lynd LD, GenCOUNSEL Study. Defining need amid exponential change: Conceptual challenges in workforce planning for clinical genetic services. Clin Ther. 2023;45 10.1016/j.clinthera.2023.07.005 [DOI] [PubMed] - 5.Grant P, Langlois S, Lynd LD, GenCOUNSEL Study, Austin J, Elliott AM. Out-of-pocket and private pay in clinical genetic testing: A scoping review. Clin Genet. 2021;100:504–21. 10.1111/cge.14006 [DOI] [PubMed] [Google Scholar] - 6.Waddell K, Wilson MG. Rapid synthesis: Examining the public provision and funding of clinical genetic tests. Hamilton, Canada: McMaster Health Forum, 2017. - 7.McMaster Health Forum. Topic overview: Coordinating the use of genetic tests and related services in British Columbia. Hamilton, Canada: McMaster Health Forum, 2012. - 8.Graf MD, Needham DF, Teed N, Brown T. Genetic testing insurance coverage trends: A review of publicly available policies from the largest US payers. Per Med. 2013;10:235–43. 10.2217/pme.13.9 [DOI] [PubMed] [Google Scholar] - 9.Pezalla EJ. Payer view of personalized medicine. American Journal of Health-System Pharmacy. 2016;73 10.2146/ajhp160038 [DOI] [PubMed] - 10.Kohler JN, Turbitt E, Biesecker BB. Personal utility in genomic testing: A systematic literature review. Eur J Hum Genet. 2017;25:662–8. 10.1038/ejhg.2017.10 [DOI] [PMC free article] [PubMed] [Google Scholar] - 11.Turbitt E, Kohler J, Angelo F, Miller IM, Lewis KL, Goddard KAB, et al. The PrU: development and validation of a measure to assess personal utility of genomic results. Genetics Med. 2022;25 [DOI] [PubMed] - 12.Kohler JN, Turbitt E, Lewis KL, Wilfond BS, Jamal L, Peay HL, et al. Defining personal utility in genomics: A Delphi study. Clin Genet. 2017;92:290–7. 10.1111/cge.12998 [DOI] [PMC free article] [PubMed] [Google Scholar] - 13.Wainstein T, Elliott AM, Austin JC. Considerations for the use of qualitative methodologies in genetic counseling research. J Genet Couns. 2023;32:300–14. 10.1002/jgc4.1644 [DOI] [PubMed] [Google Scholar] - 14.Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): A 32-item checklist for interviews and focus groups. Int J Qual Health Care. 2007;19:349–57. 10.1093/intqhc/mzm042 [DOI] [PubMed] [Google Scholar] - 15.Braun V, Clarke V. Supporting best practice in reflexive thematic analysis reporting in Palliative Medicine: A review of published research and introduction to the Reflexive Thematic Analysis Reporting Guidelines (RTARG). Palliat Med. 2024;38 10.1177/02692163241234800 [DOI] [PMC free article] [PubMed] - 16.Thorne S, Kirkham SR, O’Flynn-Magee K. The analytic challenge in interpretive description. Int J Qual Methods. 2004;3:1–11. 10.1177/160940690400300101 [Google Scholar] - 17.Thompson Burdine J, Thorne S, Sandhu G. Interpretive description: A flexible qualitative methodology for medical education research. Med Educ. 2021;55:336–43. 10.1111/medu.14380 [DOI] [PubMed] [Google Scholar] - 18.Wolgemuth J, Guyotte K, Shelton S. Introduction—Expanding Thematic Analysis. In: Expanding Approaches to Thematic Analysis. Routledge; 2024. - 19.Borle K, Austin J, Lynd LD. Assessing the prevalence of unmet need for genetic counseling in Canada and exploring associations with sociodemographic factors. Eur J Hum Genet; in press10.1038/s41431-025-01812-1 (2025) [DOI] [PMC free article] [PubMed] - 20.Allin S, Grignon M, Le Grand J. Subjective unmet need and utilization of health care services in Canada: What are the equity implications? Soc Sci Med. 2010;70:465–72. 10.1016/j.socscimed.2009.10.027 [DOI] [PubMed] [Google Scholar] - 21.Braun V, Clarke V. One size fits all? What counts as quality practice in (reflexive) thematic analysis? Qual Res Psychol. 2021;18:328–52. 10.1080/14780887.2020.1769238 [Google Scholar] - 22.Ryan GW, Bernard HR. Techniques to identify themes. Field methods. 2003;15:85–109. 10.1177/1525822X02239569 [Google Scholar] - 23.Malterud K, Siersma VD, Guassora AD. Sample size in qualitative interview studies: Guided by information power. Qual Health Res. 2016;26:1753–60. 10.1177/1049732315617444 [DOI] [PubMed] [Google Scholar] - 24.Austin J, Semaka A, Hadjipavlou G. Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. J Genet Couns. 2014;23:903–9. 10.1007/s10897-014-9728-1 [DOI] [PMC free article] [PubMed] [Google Scholar] - 25.Pearson YE, Liu-Thompkins Y. Consuming direct-to-consumer genetic tests: The role of genetic literacy and knowledge calibration. J Public Policy Mark. 2012;31:42–57. 10.1509/jppm.10.066 [Google Scholar] - 26.Krakow M, Ratcliff CL, Hesse BW, Greenberg-Worisek AJ. Assessing genetic literacy awareness and knowledge gaps in the us population: results from the health information national trends survey. Public Health Genomics. 2018;20 10.1159/000489117 [DOI] [PMC free article] [PubMed] - 27.Maio M, Carrion P, Yaremco E, Austin JC. Awareness of genetic counseling and perceptions of its purpose: A survey of the Canadian public. J Genet Couns. 2013;22:762–70. 10.1007/s10897-013-9633-z [DOI] [PMC free article] [PubMed] [Google Scholar] - 28.Hayeems RZ, Luca S, Assamad D, Bhatt A, Ungar WJ. Utility of genetic testing from the perspective of parents/caregivers: A scoping review. Children. 2021;8 10.3390/children8040259 [DOI] [PMC free article] [PubMed] - 29.Hayeems RZ, Luca S, Pullenayegum E, Stephen Meyn M, Ungar WJ. Genome diagnostics: Novel strategies for measuring value. J Manag Care Spec Pharm. 2019;25:1096–101. 10.18553/jmcp.2019.25.10.1096 [DOI] [PMC free article] [PubMed] [Google Scholar] - 30.May T, Grotevant H. Autonomy, well-being, and the value of genetic testing for adopted persons. HEC Forum. 2018;30 10.1007/s10730-017-9345-0 [DOI] [PubMed] - 31.Lee H, Vogel RI, LeRoy B, Zierhut HA Adult adoptees and their use of direct-to-consumer genetic testing: Searching for family, searching for health. J Genet Couns. 2021;30 10.1002/jgc4.1304 [DOI] [PubMed] - 32.Huynh S, Morris E, Inglis A, Austin J. Behavioral changes after psychiatric genetic counseling: an exploratory study. Public Health Genomics. 2023;26:35–44. 10.1159/000530366 [DOI] [PubMed] [Google Scholar] - 33.Inglis A, Koehn D, Mcgillivray B, Stewart SE, Austin J. Evaluating a unique, specialist psychiatric genetic counseling clinic: Uptake and impact. Clin Genet. 2015;87:218–24. 10.1111/cge.12415 [DOI] [PMC free article] [PubMed] [Google Scholar] - 34.Waxler JL, O’Brien KE, Delahanty LM, Meigs JB, Park ER, Pober BR, et al. Genetic counseling as a tool for type 2 diabetes prevention: A genetic counseling framework for common polygenetic disorders. J Genet Couns. 2012;21:684–91. 10.1007/s10897-012-9486-x [DOI] [PMC free article] [PubMed] [Google Scholar] - 35.Meilleur KG, Littleton-Kearney MT. Interventions to improve patient education regarding multifactorial genetic conditions: A systematic review. Am J Med Genet A. 2009;149:819–30. 10.1002/ajmg.a.32723 [DOI] [PMC free article] [PubMed] [Google Scholar] - 36.Athens BA, Caldwell SL, Umstead KL, Connors PD, Brenna E, Biesecker BB. A systematic review of randomized controlled trials to assess outcomes of genetic counseling. J Genet Couns. 2017;26 10.1007/s10897-017-0082-y [DOI] [PMC free article] [PubMed] - 37.Grosse SD, Wordsworth S, Payne K. Economic methods for valuing the outcomes of genetic testing: Beyond cost-effectiveness analysis. Genetics in Medicine. 2008;10 10.1097/GIM.0b013e3181837217 [DOI] [PubMed] - 38.Payne K, Eden M. Measuring the economic value of genetic counselling. Eur J Med Genet. 2019;62 10.1016/j.ejmg.2018.12.007 [DOI] [PubMed] - 39.Payne K, McAllister M, Davies L. Valuing the economic benefits of complex interventions: when maximizing health is not sufficient. Health Econ. 2013;22:258–71. [DOI] [PubMed] [Google Scholar] - 40.Kelly KM, Ellington L, Schoenberg N, et al. Genetic counseling content: How does it impact health behavior? J Behav Med. 2015;38:766–76. 10.1007/s10865-014-9613-2 [DOI] [PMC free article] [PubMed] [Google Scholar] - 41.Taylor JY, Wu CY. Effects of genetic counseling for hypertension on changes in lifestyle behaviors among African-American women. J Natl Black Nurses Assoc. 2009;20:1–10. [PMC free article] [PubMed] [Google Scholar] - 42.Zakas AL, Leifeste C, Dudley B, Karloski E, Afonso S, Grubs RE, et al. The impact of genetic counseling on patient engagement in a specialty cancer clinic. J Genet Couns. 2019;28:974–81. 10.1002/jgc4.1149 [DOI] [PubMed] [Google Scholar] - 43.Rutherford S, Zhang X, Atzinger C, Ruschman J, Myers MF. Medical management adherence as an outcome of genetic counseling in a pediatric setting. Genet Med. 2014;16:157–63. 10.1038/gim.2013.90 [DOI] [PubMed] [Google Scholar] - 44.Baldry E, Redlinger-Grosse K, MacFarlane I, Walters ST, Ash E, Steinberger J, et al. Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening. J Genet Couns. 2022;31:164–75. 10.1002/jgc4.1466 [DOI] [PubMed] [Google Scholar] - 45.Ison HE, Ware SM, Schwantes TH, Freeze S, Elmore L, Spoonamore KG. The impact of cardiovascular genetic counseling on patient empowerment. J Genet Couns. 2019;28:570–7. 10.1002/jgc4.1050 [DOI] [PubMed] [Google Scholar] - 46.Jacobs C, Turbitt E, McEwen A, Atkins L. Australasian genetic counselors’ perceptions of their role in supporting clients’ behavior change. J Pers Med. 2023;13 10.3390/jpm13010030 [DOI] [PMC free article] [PubMed] - 47.Borle K, Kopac N, Dragojlovic N, Rodriguez Llorian E, Friedman J, GenCOUNSEL Study, et al. Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method. Euro J Hum Genet. 2022;1-9 10.1038/s41431-021-01017-2 [DOI] [PMC free article] [PubMed] - 48.Dragojlovic N, Borle K, Kopac N, Nisselle A, Nuk J, Jevon M, et al. Workforce implications of increased referrals to hereditary cancer services in Canada: A scenario-based analysis. Curr Oncol. 2023;30:7241–51. 10.3390/curroncol30080525 [DOI] [PMC free article] [PubMed] [Google Scholar] - 49.Dragojlovic N, Borle K, Kopac N, Ellis U, Birch P, Adam S, et al. The composition and capacity of the clinical genetics workforce in high-income countries: A scoping review. Genet Med. 2020;22:1437–49. 10.1038/s41436-020-0825-2 [DOI] [PubMed] [Google Scholar] Associated Data This section collects any data citations, data availability statements, or supplementary materials included in this article. Supplementary Materials Data Availability Statement The data from this study will not be made available to protect the confidentiality of the participants.