Physician preparedness for genetic counseling in a pediatric cancer center in Egypt

Physician preparedness for genetic counseling in a pediatric cancer center in Egypt | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Physician preparedness for genetic counseling in a pediatric cancer center in Egypt Nouran Gouda, Alaa El Haddad, Eslam Maher, Diane Koeller, Tara Maga, and 1 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4854270/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Purpose: Considering the significant frequency of consanguinity in Egypt, a large portion of its childhood cancers may have an underlying hereditary component. The preparedness of physicians in the pediatric cancer setting to collaborate with genetic counselors is vital to provide the needed care. Methods: We conducted a cross-sectional survey aiming to evaluate the level of genetic counselling knowledge and awareness among Egyptian physicians in a large pediatric cancer center, and the barriers they perceive to its implementation. Results: A total of 150 physicians were invited, of which, 52 responded to the questionnaire. Most of the participants were oncologists (86.5%), and 9.6% were from other subspecialties such as surgery, pathology, and radiology. The majority had practical exposure to genetics in clinic with 75% (39/52) reporting involvement in a case with hereditary cancer syndrome. The average knowledge score (SD) was 42.1 (6.9) out of 60. Knowledge scores were greater in those who had educational exposure to genetics. Most of the participants (76%) incorrectly agreed that a purpose of genetic counseling is to advise people on whether to have children. A sizeable portion (21%) didn’t know the type of training or education that a genetic counselor acquires. Overall, attitudes towards genetic counseling were positive. The most perceived barrier (42%) was their referral to an MD geneticist or other physician specialist for genetics related indications. Conclusions: Egyptian physicians working in pediatric cancer care have moderate familiarity with genetic risk assessment and recognize its value. However, there is a difficulty in discerning the specific tasks performed by genetic counselors and how they can be integrated in the clinical framework. Medical Genetics Pediatrics Oncology genetic counselling pediatric oncology childhood cancer genetics Figures Figure 1 Figure 2 Figure 3 Introduction Pediatric cancer is a main cause of global concern, particularly in resource limited countries such as Egypt where the incidence rate is as high as 166 per 100,000 persons (Soliman et al., 2020 ). Some of the features concerning for a pediatric hereditary cancer syndrome according to the American College of Medical Genetics (ACMG) include cancer type, cancer laterality, multiple primary tumors, coexistence of syndromic features, family history of cancer and consanguinity (Hampel et al. 2015 ). Data from a multicenter cross-sectional study in Saudi Arabia demonstrated that up to 40.4% of pediatric cancer patients have suspicious features for a hereditary cancer susceptibility syndrome according to ACMG guidelines, which is higher than the estimated 29% in a pediatric cancer population in a US academic center. (Jastaniah et al., 2018 ) (Knapke et al., 2011 ). This study also denoted a positive history of parental consanguinity in 38% of patients. These findings indicate that a significant portion of childhood cancers in this Saudi Arabian cohort may have an underlying hereditary component, with higher suspicion for autosomal recessive conditions given rates of consanguinity. Similar trends can be expected in Egypt where overall frequency of consanguinity can be as high as 59.9% in rural areas (El Attar et al., 2022). Based on the current trends in the literature we forecast similar rates of prevalence of hereditary cancer susceptibility syndromes in Egypt’s pediatric cancer population. A pediatric cancer genetic counselor is uniquely qualified to assist in addressing the presence of hereditary cancer syndromes within a cancer center’s patient population. Genetic counselors can assist in identifying children at risk for a hereditary cancer syndrome by evaluating personal and family history, overseeing genetic testing, interpreting somatic and germline test results, providing recommendations for surveillance, and assisting with result disclosure. Access to genetic counseling often hinges on physician’s ability to recognize patients at an increased risk for hereditary cancers, and subsequent referral. This highlights the importance of physician preparedness to collaborate with genetic counselors to provide comprehensive cancer care for pediatric cancer patients. Genetic counselors can assist providers in multiple areas, improving the quality-of-care patients and families receive with increased access to genetic and genomic technologies. Identifying patients at risk for hereditary cancer syndromes can optimize care for the existing cancer, provide recommendations for appropriate surveillance for secondary cancers and identify other at-risk family members who can benefit from additional surveillance themselves (Everett et al 2016 ). It is currently unclear whether Egyptian physicians recognize the importance of genetic testing and genetic counseling to the care of their pediatric cancer patients. Genetic counseling has rapidly expanded as an international allied health profession over the last 30 years. Unfortunately, genetic counseling is still not formally recognized as a profession in Egyptian healthcare and the functions of the role are overseen by clinical geneticists and medical oncologists. IIn Egypt, there are 11 clinics nationwide where physicians are providing genetic counseling services, none of which serve the pediatric cancer population. In 2002, the first national committee for community genetic services was established with the aim of setting prevention and management policy guidelines for genetic disorders. In the same year, this committee established a national genetic counseling national program with the objective of promoting free genetic services through a hierarchal system of referral from the primary health care to secondary care and it was supported by the Egyptian Ministry of Health and Population (El Attar et al., 2022). There is an ongoing national effort to integrate genetic services into Egyptian clinical practice however, there is still a gap between research studies and public health initiatives and the clinical application of medical genetics. This is a result of defective knowledge due to non-integration of education of medical genetics in the curricula of undergraduate and postgraduates as well as a lack of legislations to regulate and standardize genetic services (El Attar et al., 2022). To date, there are no studies that have evaluated the perspective of Egyptian physicians towards the implementation of genetic counseling in cancer care. A mathematical model developed by Ibrahim et al. predicts a 3-fold increase in cancer incidence in Egyptians by 2030 (Ibrahim et al., 2014 ). This in turn, indicates an increasing need for cancer genetic counseling services into cancer care models. To ensure the effective incorporation of genetic counseling into the current clinical practice, it is important to evaluate the level of awareness among Egyptian physicians and the barriers they perceive to implementation. The results from this study can tailor the educational goals to suit the needs of this unique population of healthcare providers. Methods Study Design and Participants We conducted a cross sectional, quantitative study using survey as a tool to identify characteristics about the attitudes of the study population. The population of interest included 150 Egyptian physicians who are practicing in a pediatric cancer setting. Participants were recruited from a large pediatric cancer center (Children’s Cancer Hospital Egypt 57357[CCHE]) based on study eligibility criteria. Participants had to be trained physicians: pediatric oncologists, surgical oncologists, radiologists, pathologists, and residents who are currently practicing in the Children’s Cancer Hospital. The survey was conducted in English under the assumption that physicians in Egypt received their medical school training in English, thus they have adequate proficiency of the language. The study selected participants in a non-random and convenient sampling strategy due to limited population size. The study was approved by the Children’s Cancer Hospital Scientific Medical Advisory Committee and Human Research Ethics Committee, as well the Northwestern University IRB. Survey Questionnaire Participants were emailed a link to an electronic survey, in English, to evaluate their knowledge, attitudes, and perception of challenges towards the genetic counseling profession. The survey was assembled on Redcap with an embedded e-consent. Participation in the survey was anonymous and voluntary. There were no incentives provided for participating, consistent with the cultural and professional norms in Egypt. The survey consisted of four sections that covered the following topics: description of participant’s professional characteristics, knowledge of genetic counseling, attitudes, towards the profession and perceived challenges to implementation in Egypt. The survey questions were adopted and modified from previous validated surveys (Diamonstein et al., 2017; Nagy et al., 2020 ; Maio et al., 2013 ). The demographic sections aimed to capture the professional characteristics of the participants in the survey. This included age, years in medical practice, exposure to genetics in education and clinical practice. The knowledge section of the survey included 12 fact-based questions about genetic counseling (i.e., true, false, don’t know) to assess familiarly with the profession. The attitudes section of the survey consisted of 12 questions assessing participants inclination towards incorporating genetic counseling into cancer care in Egypt. Participants were asked to rate the extent to which they agree with statements like “including genetic counselors as part of a healthcare team is valuable because it improves patient access to genomic technologies” using a 5-point Likert scale. The last section of the survey asked participants to indicate challenges and barriers to implementation of genetic counseling in Egyptian cancer care. A pre-defined list was modified from Diamonstein et al. comprised of of various reasons physician would not make a referral to a genetic counselor (including social, cultural, financial, and professional reasons) (Diamonstein et al., 2017). Participants could select more than one response and a free response or “other” section was available to allow for items not included on the list. Data Analysis Demographics and survey data were analyzed using R software version 4.2.3. Descriptive statistics were generated and presented as number (%), mean or median and standard deviation or range. A knowledge score was created for each participant by assigning each correct answer with one point, while incorrect and “don’t know” answers were assigned zero points. The total number of correct questions were multiplied by 5 to give each participant a knowledge score that is quantifiable enough to be presented graphically (Nagy et al. 2020 ) In exploratory analysis, Kruskal Wallis test and Mann Whitney U were used to compare between knowledge scores and different groups (i.e genetic education, clinical exposure). A p-value < 0.05 was used as the level of significance. Results Demographics Participants demographic and professional characteristics are displayed in Table 1. A total of 150 physicians practicing at the Children’s Cancer Hospital in Egypt were invited to participate. A response was received from 52 physicians, of which 6 of were considered partially completed. 86.5% of participants were oncologists and 9.6% reported practicing in other medical subspecialties that include surgery, pathology, and radiology. The uptake was significantly higher among medical oncologists compared with other subspecialties. The median age of participants was 38 years old. Over sixty percent of participants had been practicing medicine for 5–15 years, while one-fourth (13/52) had been practicing for greater than 16 years and the remaining practicing for less than 5 years (3/52). Seventy-one percent (37/52) reported having educational exposure to genetics through graduate or undergraduate courses, while the remaining (14/52) did not report any genetics exposure. The majority of participants had practical exposure to genetics in clinic with seventy-five percent (39/52) reporting involvement in a case with hereditary cancer syndrome and only one participant reporting involvement in cancer genetics research. Assessment of Genetic Counseling Knowledge Participants were asked to respond with truth, false or I don’t know to factual statements about the genetic counseling profession. The maximum score a participant could total was 60 points. The mean knowledge score was 42.1 ± 6.9 and the Standard Error of the Mean (SEM) was 1.0. The frequency of scores is delineated in the graph in Fig. 1 . The minimum knowledge score was 30 points while the maximum was 60 points and was achieved by five percent of participants (3/52). There was evidence of a weak association between years of medical practice and knowledge scores. Physicians with more years of practice were more likely to have a higher knowledge score. This was demonstrated by a mean knowledge score of 37.5 for physicians who had less than 5 years of practice, 41.5 for physicians with 5–10 years, 43.1 for physicians with 11–15 years and 43.4 for physicians with 16–20 years. However, physicians with greater than 20 years did not follow this trend and had a lower mean knowledge score of 40.7. The p value = 0.09 demonstrated a weak association, likely due to the small sample size and the varying knowledge scores of physicians who had greater than 20 years of medical practice. Knowledge scores were greater in participants who had educational exposure to genetics. Physicians who took one or more genetic courses in undergraduate or postgraduate had a median (IQR) score of 40 (40–45) while those who did not have any educational exposure had a median (IQR) of 37.5 (31.25 -40). A similar association was observed with physicians who had practical exposure to cancer genetics by handling cases with hereditary cancer syndrome or being involved in genetics research. Physicians with practical exposure had a median (IQR) score of 40 (40–48) while those who did not have any exposure had a median (IQR) of 40 (32.5–40). Knowledge scores did not differ significantly based on age. Approximately 76% of physicians incorrectly answered that a purpose of genetic counseling is to advise people on whether to have children while 29% believed that it can help couples have a child with desirable characteristics. A sizeable portion of the physicians (21%) didn’t know the type of training or education that a genetic counselor acquires (Fig. 2). The majority (80%) of physicians believe that genetic counseling helps individuals identify their ancestry. Attitudes towards genetic counseling services To assess physician’s attitude, Likert-scale questions were used with statements exploring their opinions about the benefit and value of genetic counseling. Overall, attitudes towards genetic counseling were generally positive and the majority of physicians responded with “strongly agree” or “agree” to statements exploring the value of genetic counseling. The distribution for all the participants responses is shown in Fig. 3. A sizeable portion of physicians believed that the role of physicians should extend to cover tasks typically executed by a genetic counselor. Over half (64%) agreed that physicians should analyze and counsel patients on genetic test results and 71% agreed that they are responsible for completing genetic evaluation (e.g., family history, risk assessment, tumor mutation analysis) for patients ( Table 2). The majority agreed that genetic counseling can benefit patients, with 88% recognizing that a germline mutation may influence cancer treatment (aid selection of therapy or modify surgical decisions) and 95% acknowledging that it would influence management for a secondary cancer (e.g., extra screening or prophylactic surgery). There was overall agreement that risk assessment is valuable for cancer care with 88% citing that there is high-cost benefit to implementing lifelong surveillance for patients with mutations predisposing to a hereditary cancer syndrome and 81% citing it can identify unaffected individuals who have not developed cancer yet. Physicians had very positive attitudes towards genetic counseling professionals with 93% believing they would be valuable to have as part of the healthcare team. Additionally, as many as 79% of physicians were interested to become involved in genetic counseling-related training sessions and workshops. Perceived barriers to genetic counseling Participants were provided a list of potential barriers to referring a pediatric cancer patient to a genetic counselor and were allowed to choose more than one option. Table 3 outlines the frequency of each response chosen. The most selected barrier (42%) was that physicians could refer to an MD geneticist or other physician specialist for genetics related indications. Almost half (48%) of physicians cited concerns that focused on the patient’s circumstances like the financial implications of additional cancer surveillance and introducing social stigma for those who carry germline mutations associated with hereditary cancer syndromes. One-sixth (16%) selected a structural barrier such as not having any genetic counselors in the area to make the referrals to. A moderate portion of participants (30%) indicated “awareness” related challenges to referrals such as not knowing when it would be appropriate to make a referral to a genetic counselor and not being familiar with what genetic counseling can do for their patients. The remaining challenges (8%) selected by participants included intrinsic/foundational barriers like the belief that physicians can order the appropriate genetic testing themselves, genetic counselors are not qualified to assess/interpret risk and that genetic counseling evaluations would not change management for their cancer patients. Discussion Physicians surveyed in this study widely recognized the value of genetic counseling in pediatric cancer care; however, the findings indicate a substantial need for education regarding the specific role of genetic counselors and the type of educational training they receive. The majority of physicians reported interest in educational workshops related to genetic counseling. Findings from this study can prioritize educational materials about the duties, responsibilities, and qualifications of a genetic counselor in addition to the sought after resources about cancer genetics. Familiarity/Knowledge Most study participants had knowledges score indicating an overall familiarity with the genetic counseling profession. Physicians who had educational or clinical exposure to genetics were more likely to have a higher knowledge score. Similar trends were observed in a Dutch cohort, where physicians who have taken an elective course in genetics or provided genetic counseling in their own practice were associated with having higher genetics knowledge scores on a validated questionnaire assessing understanding of genetics and genetic counseling ( Baars et al. 2005 ) With regards to participants perception of the purpose of genetic counseling, a sizable portion felt that its role is to help couples have a child with desirable characteristics and aims to advise people on whether to have children. This is consistent with findings from a study surveying the Canadian general population’s awareness of genetic counseling and found that a considerable portion of the participants consider genetic counseling to be based on similar eugenic values (Maio et al.). Up until the early 20th century, the practice of genetics was underpinned with eugenic motives seeking to improve race through planned breeding and elimination of disabilities but has gradually moved away from this erroneous theory. The remnants of the eugenics philosophy remain for individuals who have not revisited the foundation of modern-day genetic counseling which prioritizes the needs of individuals and families affected by genetic diseases. The societal view of individuals with disabilities has historically been fraught with despair and doubt in the Arab world. There’s a sense of guilt among parents of children with disabilities as they assume responsibility of having an affected child. Unmarried couples in Saudi Arabia reported a decision to divorce if they learn their child is affected with a genetic disease, while the majority affirmed, they will not have another child knowing they could be impacted by a genetic disease and would choose abortion in case the pregnancy had already occurred (Arafa et al., 2021). It is possible that healthcare practitioners in Egypt share similar motivation with the Arab general public about utilizing genetics to prevent disabilities and ensure that couple’s birth healthy children only. We also found that a relatively common perception of the purpose of genetic counseling that emerged among physicians was the identification of patient’s ancestry. It is possible that this misconception developed from the widespread availability of genealogy genetic tests that have become the main motivating factor for customers to purchase direct to consumer testing (DTC) (Pascal, Su, 2011). An overrepresentation of ancestry testing may have resulted in an availability heuristic, leading physicians to easily recall genealogy as a routine test used in genetic evaluation. A large proportion of physicians reported little or no knowledge about the education and certification process of genetic counselors alluding to a limited understanding of the skill set they acquire through graduate training. Previous literature suggests that medical students, residents and practicing physicians may have inaccurate perceptions of the services provided by genetic counselors (Demmer et al. 2000 ). Thus, physicians may be less likely to utilize genetic counselor services if they don’t have adequate understanding and confidence in their competencies. Attitudes Regarding physicians’ attitudes, a majority agreed that it was their responsibility to complete genetic evaluation/risk assessment and counsel patients on genetic test results, which are all functions performed by a genetic counselor in other countries where genetic counseling is predominant. The attitude of physicians in this study were inconsistent with physicians in prior studies. In one survey of 1251 physicians from varying subspecialties in the United States, only 29% reported feeling qualified to provide genetic counseling to their patients while 80% felt that a certified genetic counselor was qualified to provide genetic counseling. Interestingly, most primary and tertiary care physicians in this study thought oncologist are suitable to provide genetic counseling to patients, however, less than half of the oncologist agreed with this statement (Freedman et al., 2003 ). Similarly, physicians practicing in countries like Korea where genetic counseling is also mostly performed by physicians, 51.9% reported that dealing with complex family aspects is outside the scope of their practice and an important responsibility of a genetic counselor. This was further demonstrated by the Korean physician’s self-reported durations for genetic consultations which ranged from 30–59 minutes and included pre visit actives such as reviewing medical records or literature prior to the visit, whereas the mean duration of a non-genetic consultation was only 6.2 minutes (Kim et al., 2022 ). Similar studies assessing physicians’ knowledge on ethical regulations and techniques related to genetic counseling found that only 20.7% physicians demonstrated proficient knowledge (Tomatir et al., 2007 ). This data distinguishes the responsibilities of genetic counselors by contrasting the type and duration of the functions they perform, while challenging the current beliefs of physicians in this study who expect to execute similar tasks without comparable training. However, it’s important to frame that Egyptian healthcare does not currently have access to genetic counselors therefore the physician’s attitudes may be influenced by their current scope of practice rather than their fundamental belief that they can appropriately provide genetic counseling. Incorporating genetic counselors in pediatric cancer care clinics has demonstrated success in increasing the identification of hereditary cancer syndromes by providing an efficient and comprehensive risk assessment while allowing physicians to prioritize the patient’s oncologic needs (Venier et al., 2022 ; Knapke et al., 2011 ; Eichmeyer et al. 2013). A study in Baylor College exploring pediatric oncologists' perspective around returning of germline test results in cancer care found that oncologists emphasized how genetic counselors support was essential in the process. Challenges identified by the oncologist included conveying uncertain information, limit of oncologist’s genetic expertise and navigating unanticipated psychological and informational impacts of genetic testing (Hsu et al. 2021). This supports the need for collaboration between genetic counselor and physician to optimize the cancer care for pediatric patients. As cancer genetics continues to evolve in complexity, it would be unreasonable to expect clinicians to provide these comprehensive services. The provision of healthcare in Egypt is currently highly centralized on physicians due to the lack of regulated allied health professions. Past research in Egypt found that non-MD healthcare professions (such as nurses) have had lower level of professional autonomy due to physicians’ dominant authority (Hossny et al., 2021). In such “physician dominant” healthcare structures, an extender model can be suitable to transition genetic counseling into clinical care. This collaborative model trains and utilizes nurses as genetic counselor extenders (GCE) to provide basic cancer risk assessment and offer genetic testing by triaging patients with board certified genetic counselors according to complexity and risk (Nixon et al., 2019 ). This ensures that genetic counselors are meeting the growing demand for these services amidst the shortage of genetic healthcare professionals in Egypt. A significant number of physicians cited that a germline mutation in a cancer predisposition gene may influence the way an existing tumor is treated as well as influence management of secondary cancer risks. Surveillance for patients with hereditary cancer syndromes enables early detection of smaller tumors, allowing for the possibility of less intensive therapy and improved outcome. For example, an 89% 5-year overall survival for Li Fraumeni patients who underwent surveillance, compared to 59% in the non-surveillance group (Villiani et al. 2016). The data from our study supports that Egyptian physicians realize the important role genetic evaluation can have for patients who may be at risk for a hereditary cancer syndrome. A high percentage of participants reported finding value in the inclusion of a genetic counselors as part of a healthcare team and expressed interested in being involved in genetic counseling related training sessions and workshops. Data surveying physicians practicing in cancer care settings like Greece and Turkey, where genetic counseling is provided by physicians, found that the majority of physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course (Fountzilas et al., 2022 ; Tomatir et al., 2007 ). Physicians’ willingness to receive genetic counseling-related educational training and integrate risk assessment into cancer care indicate their recognition of the current and potential value of genetic counselors in Egypt. In the past, successful collaborations have taken place between Children’s Cancer Hospital Egypt and the University of Colorado to provide intensive short training courses on utilizing pharmacogenomics in cancer care (Nagy et al. 2020 ). We anticipate similar educational outreach in genetic counseling will be met with the same eagerness. Challenges The most reported barrier to the clinical application of genetic counseling was that physicians could refer to an MD geneticist for genetics related indications. Previous literature studying physicians perceived barriers to genetic counseling in the United States cited the same barrier to referral, suggesting the generalizability of this position among providers practicing in different countries and healthcare settings (Diamonstein et al., 2018 ). While MD geneticists certainly may provide genetic services, previous research shows that they may lack skills necessary to address complex ethical and psychosocial issues (Demmer et al., 2000 ). It has also been reported that patients receiving genetic counseling through physicians may experience incomplete services because of a lack of skill to counsel on the genetic test results ordered (Bensend et al., 2014 ). Reported reasons included lack of basic genetic knowledge, misinterpretation of cancer risk and inaccurate interpretation of genetic test results (Klitzman et al. 2013 ; Miller et al 2014 ; Baars et al., 2005 ). The downstream negative outcomes were described by Brierley et al. ( 2010 ) and included unnecessary prophylactic surgeries, unnecessary testing, psychological distress, and false reassurance resulting in appropriate medical management. Physicians misunderstanding of the significance of genetic test results can lead to the underutilization of genetic services in high-risk groups, or the overutilization of services in low-risk groups (Wideroff et al. 2005 ). In Greece, where genetic counseling is predominantly offered by physicians, 70% of the physicians surveyed reported they would manage a breast cancer patient’s genetic test result contrary to the recommended cancer guidelines. While the current guidelines only recommend intervention when a mutation in the BRCA1 is pathogenic (disease causing), the majority of the physicians in the study would continue to recommend the same management even if the mutation is uncertain in its impact to gene function (variant of uncertain significance) (Fountzillas et al, 2022). As such, the literature supports the importance of genetic counseling to address the complex nature of such evaluations from a medical genetics and psychosocial dimension. However, if Egyptian physicians lack awareness about the proficiencies of a genetic counselor, we hypothesize they will be less likely to utilize their services. This supports the importance of educating physicians on the ways which genetic counselors can contribute to cancer care and the unique skills that distinguishes them from MD geneticists or other physicians. Physicians denoted patient’s financial implications of additional cancer surveillance as a main barrier to their utilization of genetic testing and genetic counseling. As more patients undergo genetic testing, more unaffected “previvors” are identified with pathogenic variants that increase their risk to develop cancer. Those individuals who have predisposition to cancer but have not yet developed the disease face new challenges like the inability to commit to the recommended cancer screening for multiple reasons like financial burden, accessibility, and scientific illiteracy. For example, the American Association for Cancer Research (AACR) recommends comprehensive tumor screening for children with a pathogenic germline TP53 variant consistent with Li Fraumeni Syndrome. These guidelines include annual physical exams, pelvic ultrasounds, whole body and brain MRI and dermatologic screening. Multiple studies have shown that cost is a primary structural barrier to surveillance among cancer patients identified with a pathogenic variant, particularly among underserved communities (Mittendorf et al., 2023). Physicians practicing in this Egyptian cancer center serve lower socioeconomic patients who could struggle to uptake regular surveillance and/or prophylactic surgeries for additional financial distress on top of the existing burden of cancer treatment. This introduces an ethical concern for physicians surrounding the beneficence of providing genetic testing to individuals who don’t have resources to adhere to the recommended surveillance. As physicians are not necessarily specialized in addressing ethical issues in medical genetics, the role of a genetic counselor may become more pronounced and valuable. Another commonly reported barrier to the clinical application of genetic counseling is the potential social stigma it can introduce for patients in their communities. In highly collective societies like Egypt, values are placed on being “healthy” because it protects individuals from the widespread ableism and discrimination when it comes to marriage or employment. Arab patients can have reluctant attitudes about genetic testing because it may reveal information that ostracizes them communally. The literature demonstrates these concerns in Saudi Arabia, another collective culture, where women report that genetic testing could potentially result in the annulment of their marriage (Alotaibi et al., 2022 ). Similarly in Jordan, a large group of women surveyed expressed interest in genetic test results only if there is public education about genetics to mitigate the harm and social stigma (Abdo et al., 2018 ). These cultural concerns highlight the unique challenges that Egyptian patients and healthcare providers will face with the increasing availability of genetic testing. Learning about the social stigma from the patient’s perspective will be an important next step to outline this concern and explore ways to mitigate it, such as educating the public. A large proportion of physicians reported not having access to a genetic counselor in addition to not knowing when it would be appropriate to make a referral. There are currently 11 clinics in Egypt offering genetic services for a population of 110 million, compared to 1313 clinics in the United States according to the ACMG (Raouf, 2008 ). This structural barrier suggests a need for genetic counselors, but more importantly, a need for educational material outlining the referral process to encourage physician collaboration with genetic counselors when they start providing their services. Study Limitation The present sample of physicians in this study were limited by size and professional characteristics. Although physicians were recruited from various subspecialties, there was overrepresentation of medical oncologists due to a lower uptake of the survey among other physician types. Additionally, this was a single center study thus there may be confounding factors owing to the common genetics’ exposure from shared meetings, conferences, symposia, and seminars. Therefore, results from our study cannot be generalized to all physician types practicing in cancer care or other Egyptian physicians. Lastly, the survey tools used in our questionnaire were adapted from validated surveys to suit our study population, however the modifications made were not further validated so caution should be taken when drawing absolute conclusions from our data. Conclusion and Practical Implications To our knowledge, this is the first study to explore healthcare professionals’ position towards the integration of formal genetic counseling in Egypt. The findings of this study assert that Egyptian physicians have moderate familiarity with genetic risk assessment and recognize its value in cancer care. The results reveal difficulty among physicians in discerning the specific tasks performed by genetic counselors and how they can be integrated in the clinical framework. Participants indicated their preparedness to collaborate and become involved in genetics training and educational workshops. The practical implications of these findings can be used to emphasize educational goals that are personalized to the needs of Egyptian physicians. Future research could focus on surveying a larger sample of physicians from varying subspecialities and assess how physicians are currently addressing genetic related issues for patients with hereditary cancer syndromes to identify potential areas of strength and weaknesses. 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Knowledge of ethical standards in genetic testing among medical students, residents, and practicing physicians. JAMA, 284(20), 2595–2596. Freedman, A. N., Wideroff, L., Olson, L., Davis, W., Klabunde, C., Srinath, K. P., Reeve, B. B., Croyle, R. T., & Ballard-Barbash, R. (2003). US physicians' attitudes toward genetic testing for cancer susceptibility. American journal of medical genetics. Part A , 120A (1), 63–71. https://doi.org/10.1002/ajmg.a.10192 Kim, N., Kong, S. Y., Yoo, J., Kim, D. H., Seo, S. H., & Kim, J. (2022). Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea. Annals of laboratory medicine , 42 (3), 314–320. https://doi.org/10.3343/alm.2022.42.3.314 Tomatir, A. G., Sorkun, H. C., Demirhan, H., & Akdağ, B. (2007). Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genetics in medicine : official journal of the American College of Medical Genetics , 9 (2), 130–135. https://doi.org/10.1097/gim.0b013e3180306880 Venier, R. E., Grubs, R. E., Kessler, E., Cooper, K. L., Bailey, K. M., & Meade, J. (2022). Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States. Journal of genetic counseling , 31 (4), 901–911. https://doi.org/10.1002/jgc4.1559 Hossny, E. K., & Sabra, H. E. (2021). The attitudes of healthcare professionals towards nurse-physician collaboration. Nursing open, 8(3), 1406–1416. https://doi.org/10.1002/nop2.756 Nixon, D. M., Harwood, C. E., Kreyling, G., & Cohen, S. A. (2019). Genetic counselor extenders help meet growing demand for services. Oncology Issues, 34(4), 36–45. https://doi.org/10.1080/10463356.2019.1622360 Eichmeyer JN, Burnham C, Sproat P, Tivis R, Beck TM. The value of a genetic counselor: improving identification of cancer genetic counseling patients with chart review. J Genet Couns. 2014 Jun;23(3):323-9. doi: 10.1007/s10897-013-9664-5. Epub 2013 Oct 25. PMID: 24155015. Hsu, R.L.; Gutierrez, A.M.; Schellhammer, S.K.; Robinson, J.O.; Scollon, S.; Street, R.L., Jr.; Salisbury, A.N.; Pereira, S.; Plon, S.E.; Malek, J.; et al. Pediatric Oncologists’ Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care. J. Pers. Med. 2021, 11, 570. https://doi.org/10.3390/jpm11060570 Villani, A., Tabori, U., Schiffman, J., Shlien, A., Beyene, J., Druker, H., Novokmet, A., Finlay, J., & Malkin, D. (2011). Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. The Lancet. Oncology , 12 (6), 559–567. https://doi.org/10.1016/S1470-2045(11)70119-X Fountzilas, E., Apostolou, P., Vasiliadis, A. V., Aivazi, D., Saloustros, E., & Fostira, F. (2022). Physicians' experience, practice and education, on genetic testing and genetic counseling: a nationwide survey study in Greece. Familial cancer , 21 (4), 479–487. https://doi.org/10.1007/s10689-022-00290-4 Bensend, T. A., Veach, P. M., & Niendorf, K. B. (2014). What's the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of genetic counseling, 23(1), 48–63. https://doi.org/10.1007/s10897-013-9605-3 Klitzman, R., Chung, W., Marder, K., Shanmugham, A., Chin, L. J., Stark, M., Leu, C. S., & Appelbaum, P. S. (2013). Attitudes and practices among internists concerning genetic testing. Journal of genetic counseling , 22 (1), 90–100. https://doi.org/10.1007/s10897-012-9504-z Miller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., & Lagrave, D. (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American journal of medical genetics. Part A , 164A (5), 1094–1101. https://doi.org/10.1002/ajmg.a.36453 Wideroff, L., Vadaparampil, S. T., Greene, M. H., Taplin, S., Olson, L., & Freedman, A. N. (2005). Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. Journal of Medical Genetics, 42(10), 749–755. Brierley, K. L., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., Schwartz, R. C., & Matloff, E. T. (2010). Errors in delivery of cancer genetics services: implications for practice. Connecticut medicine , 74 (7), 413–423. Mittendorf, K. F., Knerr, S., Kauffman, T. L., Lindberg, N. M., Anderson, K. P., Feigelson, H. S., Gilmore, M. J., Hunter, J. E., Joseph, G., Kraft, S. A., Zepp, J. M., Syngal, S., Wilfond, B. S., & Goddard, K. A. B. (2021). Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. JCO precision oncology , 5 , PO.21.00233. https://doi.org/10.1200/PO.21.00233 Alotaibi, A., Alkhaldi, N. K., AlNassir, A. M., AlAyoubi, L. A., AlMalki, N. A., Almughyiri, R. A., AlDosary, R. H., & Cordero, M. A. W. (2022). Exploring People's Knowledge of Genetics and Attitude towards Genetic Testing: A Cross-Sectional Study in a Population with a High Prevalence of Consanguinity. Healthcare (Basel, Switzerland) , 10 (11), 2227. https://doi.org/10.3390/healthcare10112227 Abdo, N., Ibraheem, N., Obeidat, N., Graboski-Bauer, A., Batieha, A., Altamimi, N., & Khatatbih, M. (2018). Knowledge, Attitudes, and Practices of Women Toward Prenatal Genetic Testing. Epigenetics insights, 11, 2516865718813122. https://doi.org/10.1177/2516865718813122 Raouf R. (2008). Capacity Building for the Transfer of Genetic Knowledge into Practice and Prevention. Genet. Serv. Egypt: Curr. Situation Needs Assess. Capabilitynet.eu. [Cited 2022 Feb 4]. Available from: http://www.capabilitynet.eu/Documents/Needs_Assesement_CAPABILITY_Egypt.pdf. Tables Tables 1 to 3 are available in the Supplementary Files section. Additional Declarations The authors declare no competing interests. Supplementary Files Tables.docx Cite Share Download PDF Status: Posted Version 1 posted 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. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. 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-4854270","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":335609017,"identity":"c9e75be3-6d06-4c76-bca8-71cfdb15f8c4","order_by":0,"name":"Nouran 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version.\u003c/p\u003e","description":"","filename":"Figure3page0001.jpg","url":"https://assets-eu.researchsquare.com/files/rs-4854270/v1/203a21f08db0130190d209ce.jpg"},{"id":62065507,"identity":"5130b689-b58e-4344-a9e4-db7843eded9b","added_by":"auto","created_at":"2024-08-09 00:48:19","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1456715,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-4854270/v1/586a0db0-1261-44f0-b1ce-c9007bb11076.pdf"},{"id":62065157,"identity":"0fe96bf3-ed6b-4eb1-8fce-b123153177d0","added_by":"auto","created_at":"2024-08-09 00:40:19","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":1652286,"visible":true,"origin":"","legend":"","description":"","filename":"Tables.docx","url":"https://assets-eu.researchsquare.com/files/rs-4854270/v1/3e66cfcf906f5843ec08db0d.docx"}],"financialInterests":"The authors declare no competing interests.","formattedTitle":"\u003cp\u003e\u003cstrong\u003ePhysician preparedness for genetic counseling in a pediatric cancer center in Egypt\u003c/strong\u003e\u003c/p\u003e","fulltext":[{"header":"Introduction","content":"\u003cp\u003ePediatric cancer is a main cause of global concern, particularly in resource limited countries such as Egypt where the incidence rate is as high as 166 per 100,000 persons (Soliman et al., \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2020\u003c/span\u003e). Some of the features concerning for a pediatric hereditary cancer syndrome according to the American College of Medical Genetics (ACMG) include cancer type, cancer laterality, multiple primary tumors, coexistence of syndromic features, family history of cancer and consanguinity (Hampel et al. \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Data from a multicenter cross-sectional study in Saudi Arabia demonstrated that up to 40.4% of pediatric cancer patients have suspicious features for a hereditary cancer susceptibility syndrome according to ACMG guidelines, which is higher than the estimated 29% in a pediatric cancer population in a US academic center. (Jastaniah et al., \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) (Knapke et al., \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2011\u003c/span\u003e). This study also denoted a positive history of parental consanguinity in 38% of patients. These findings indicate that a significant portion of childhood cancers in this Saudi Arabian cohort may have an underlying hereditary component, with higher suspicion for autosomal recessive conditions given rates of consanguinity. Similar trends can be expected in Egypt where overall frequency of consanguinity can be as high as 59.9% in rural areas (El Attar et al., 2022). Based on the current trends in the literature we forecast similar rates of prevalence of hereditary cancer susceptibility syndromes in Egypt\u0026rsquo;s pediatric cancer population.\u003c/p\u003e \u003cp\u003eA pediatric cancer genetic counselor is uniquely qualified to assist in addressing the presence of hereditary cancer syndromes within a cancer center\u0026rsquo;s patient population. Genetic counselors can assist in identifying children at risk for a hereditary cancer syndrome by evaluating personal and family history, overseeing genetic testing, interpreting somatic and germline test results, providing recommendations for surveillance, and assisting with result disclosure. Access to genetic counseling often hinges on physician\u0026rsquo;s ability to recognize patients at an increased risk for hereditary cancers, and subsequent referral. This highlights the importance of physician preparedness to collaborate with genetic counselors to provide comprehensive cancer care for pediatric cancer patients. Genetic counselors can assist providers in multiple areas, improving the quality-of-care patients and families receive with increased access to genetic and genomic technologies. Identifying patients at risk for hereditary cancer syndromes can optimize care for the existing cancer, provide recommendations for appropriate surveillance for secondary cancers and identify other at-risk family members who can benefit from additional surveillance themselves (Everett et al \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e2016\u003c/span\u003e). It is currently unclear whether Egyptian physicians recognize the importance of genetic testing and genetic counseling to the care of their pediatric cancer patients.\u003c/p\u003e \u003cp\u003eGenetic counseling has rapidly expanded as an international allied health profession over the last 30 years. Unfortunately, genetic counseling is still not formally recognized as a profession in Egyptian healthcare and the functions of the role are overseen by clinical geneticists and medical oncologists. IIn Egypt, there are 11 clinics nationwide where physicians are providing genetic counseling services, none of which serve the pediatric cancer population. In 2002, the first national committee for community genetic services was established with the aim of setting prevention and management policy guidelines for genetic disorders. In the same year, this committee established a national genetic counseling national program with the objective of promoting free genetic services through a hierarchal system of referral from the primary health care to secondary care and it was supported by the Egyptian Ministry of Health and Population (El Attar et al., 2022). There is an ongoing national effort to integrate genetic services into Egyptian clinical practice however, there is still a gap between research studies and public health initiatives and the clinical application of medical genetics. This is a result of defective knowledge due to non-integration of education of medical genetics in the curricula of undergraduate and postgraduates as well as a lack of legislations to regulate and standardize genetic services (El Attar et al., 2022).\u003c/p\u003e \u003cp\u003eTo date, there are no studies that have evaluated the perspective of Egyptian physicians towards the implementation of genetic counseling in cancer care. A mathematical model developed by Ibrahim et al. predicts a 3-fold increase in cancer incidence in Egyptians by 2030 (Ibrahim et al., \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2014\u003c/span\u003e). This in turn, indicates an increasing need for cancer genetic counseling services into cancer care models. To ensure the effective incorporation of genetic counseling into the current clinical practice, it is important to evaluate the level of awareness among Egyptian physicians and the barriers they perceive to implementation. The results from this study can tailor the educational goals to suit the needs of this unique population of healthcare providers.\u003c/p\u003e"},{"header":"Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eStudy Design and Participants\u003c/h2\u003e \u003cp\u003eWe conducted a cross sectional, quantitative study using survey as a tool to identify characteristics about the attitudes of the study population. The population of interest included 150 Egyptian physicians who are practicing in a pediatric cancer setting. Participants were recruited from a large pediatric cancer center (Children\u0026rsquo;s Cancer Hospital Egypt 57357[CCHE]) based on study eligibility criteria. Participants had to be trained physicians: pediatric oncologists, surgical oncologists, radiologists, pathologists, and residents who are currently practicing in the Children\u0026rsquo;s Cancer Hospital. The survey was conducted in English under the assumption that physicians in Egypt received their medical school training in English, thus they have adequate proficiency of the language. The study selected participants in a non-random and convenient sampling strategy due to limited population size. The study was approved by the Children\u0026rsquo;s Cancer Hospital Scientific Medical Advisory Committee and Human Research Ethics Committee, as well the Northwestern University IRB.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec4\" class=\"Section2\"\u003e \u003ch2\u003eSurvey Questionnaire\u003c/h2\u003e \u003cp\u003eParticipants were emailed a link to an electronic survey, in English, to evaluate their knowledge, attitudes, and perception of challenges towards the genetic counseling profession. The survey was assembled on Redcap with an embedded e-consent. Participation in the survey was anonymous and voluntary. There were no incentives provided for participating, consistent with the cultural and professional norms in Egypt.\u003c/p\u003e \u003cp\u003eThe survey consisted of four sections that covered the following topics: description of participant\u0026rsquo;s professional characteristics, knowledge of genetic counseling, attitudes, towards the profession and perceived challenges to implementation in Egypt. The survey questions were adopted and modified from previous validated surveys (Diamonstein et al., 2017; Nagy et al., \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2020\u003c/span\u003e; Maio et al., \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2013\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe demographic sections aimed to capture the professional characteristics of the participants in the survey. This included age, years in medical practice, exposure to genetics in education and clinical practice.\u003c/p\u003e \u003cp\u003eThe knowledge section of the survey included 12 fact-based questions about genetic counseling (i.e., true, false, don\u0026rsquo;t know) to assess familiarly with the profession.\u003c/p\u003e \u003cp\u003eThe \u003cspan refid=\"Sec11\" class=\"InternalRef\"\u003eattitudes\u003c/span\u003e section of the survey consisted of 12 questions assessing participants inclination towards incorporating genetic counseling into cancer care in Egypt. Participants were asked to rate the extent to which they agree with statements like \u0026ldquo;including genetic counselors as part of a healthcare team is valuable because it improves patient access to genomic technologies\u0026rdquo; using a 5-point Likert scale.\u003c/p\u003e \u003cp\u003eThe last section of the survey asked participants to indicate challenges and barriers to implementation of genetic counseling in Egyptian cancer care. A pre-defined list was modified from Diamonstein et al. comprised of of various reasons physician would not make a referral to a genetic counselor (including social, cultural, financial, and professional reasons) (Diamonstein et al., 2017). Participants could select more than one response and a free response or \u0026ldquo;other\u0026rdquo; section was available to allow for items not included on the list.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec5\" class=\"Section2\"\u003e \u003ch2\u003eData Analysis\u003c/h2\u003e \u003cp\u003eDemographics and survey data were analyzed using R software version 4.2.3. Descriptive statistics were generated and presented as number (%), mean or median and standard deviation or range. A knowledge score was created for each participant by assigning each correct answer with one point, while incorrect and \u0026ldquo;don\u0026rsquo;t know\u0026rdquo; answers were assigned zero points. The total number of correct questions were multiplied by 5 to give each participant a knowledge score that is quantifiable enough to be presented graphically (Nagy et al. \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2020\u003c/span\u003e) In exploratory analysis, Kruskal Wallis test and Mann Whitney U were used to compare between knowledge scores and different groups (i.e genetic education, clinical exposure). A p-value\u0026thinsp;\u0026lt;\u0026thinsp;0.05 was used as the level of significance.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec7\" class=\"Section2\"\u003e \u003ch2\u003eDemographics\u003c/h2\u003e \u003cp\u003e Participants demographic and professional characteristics are displayed in \u003cb\u003eTable\u0026nbsp;1.\u003c/b\u003e A total of 150 physicians practicing at the Children\u0026rsquo;s Cancer Hospital in Egypt were invited to participate. A response was received from 52 physicians, of which 6 of were considered partially completed. 86.5% of participants were oncologists and 9.6% reported practicing in other medical subspecialties that include surgery, pathology, and radiology. The uptake was significantly higher among medical oncologists compared with other subspecialties.\u003c/p\u003e \u003cp\u003eThe median age of participants was 38 years old. Over sixty percent of participants had been practicing medicine for 5\u0026ndash;15 years, while one-fourth (13/52) had been practicing for greater than 16 years and the remaining practicing for less than 5 years (3/52). Seventy-one percent (37/52) reported having educational exposure to genetics through graduate or undergraduate courses, while the remaining (14/52) did not report any genetics exposure. The majority of participants had practical exposure to genetics in clinic with seventy-five percent (39/52) reporting involvement in a case with hereditary cancer syndrome and only one participant reporting involvement in cancer genetics research.\u003c/p\u003e \u003cp\u003e \u003cb\u003eAssessment of Genetic Counseling Knowledge\u003c/b\u003e \u003c/p\u003e \u003cp\u003eParticipants were asked to respond with truth, false or I don\u0026rsquo;t know to factual statements about the genetic counseling profession. The maximum score a participant could total was 60 points. The mean knowledge score was 42.1\u0026thinsp;\u0026plusmn;\u0026thinsp;6.9 and the Standard Error of the Mean (SEM) was 1.0. The frequency of scores is delineated in the graph in \u003cb\u003eFig.\u0026nbsp;1\u003c/b\u003e. The minimum knowledge score was 30 points while the maximum was 60 points and was achieved by five percent of participants (3/52).\u003c/p\u003e \u003cp\u003eThere was evidence of a weak association between years of medical practice and knowledge scores. Physicians with more years of practice were more likely to have a higher knowledge score. This was demonstrated by a mean knowledge score of 37.5 for physicians who had less than 5 years of practice, 41.5 for physicians with 5\u0026ndash;10 years, 43.1 for physicians with 11\u0026ndash;15 years and 43.4 for physicians with 16\u0026ndash;20 years. However, physicians with greater than 20 years did not follow this trend and had a lower mean knowledge score of 40.7. The p value\u0026thinsp;=\u0026thinsp;0.09 demonstrated a weak association, likely due to the small sample size and the varying knowledge scores of physicians who had greater than 20 years of medical practice. Knowledge scores were greater in participants who had educational exposure to genetics. Physicians who took one or more genetic courses in undergraduate or postgraduate had a median (IQR) score of 40 (40\u0026ndash;45) while those who did not have any educational exposure had a median (IQR) of 37.5 (31.25 -40). A similar association was observed with physicians who had practical exposure to cancer genetics by handling cases with hereditary cancer syndrome or being involved in genetics research. Physicians with practical exposure had a median (IQR) score of 40 (40\u0026ndash;48) while those who did not have any exposure had a median (IQR) of 40 (32.5\u0026ndash;40). Knowledge scores did not differ significantly based on age.\u003c/p\u003e \u003cp\u003eApproximately 76% of physicians incorrectly answered that a purpose of genetic counseling is to advise people on whether to have children while 29% believed that it can help couples have a child with desirable characteristics. A sizeable portion of the physicians (21%) didn\u0026rsquo;t know the type of training or education that a genetic counselor acquires (Fig.\u0026nbsp;2). The majority (80%) of physicians believe that genetic counseling helps individuals identify their ancestry.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec8\" class=\"Section2\"\u003e \u003ch2\u003eAttitudes towards genetic counseling services\u003c/h2\u003e \u003cp\u003eTo assess physician\u0026rsquo;s attitude, Likert-scale questions were used with statements exploring their opinions about the benefit and value of genetic counseling. Overall, attitudes towards genetic counseling were generally positive and the majority of physicians responded with \u0026ldquo;strongly agree\u0026rdquo; or \u0026ldquo;agree\u0026rdquo; to statements exploring the value of genetic counseling. The distribution for all the participants responses is shown in \u003cb\u003eFig.\u0026nbsp;3.\u003c/b\u003e A sizeable portion of physicians believed that the role of physicians should extend to cover tasks typically executed by a genetic counselor. Over half (64%) agreed that physicians should analyze and counsel patients on genetic test results and 71% agreed that they are responsible for completing genetic evaluation (e.g., family history, risk assessment, tumor mutation analysis) for patients (\u003cb\u003eTable\u0026nbsp;2).\u003c/b\u003e\u003c/p\u003e \u003cp\u003e The majority agreed that genetic counseling can benefit patients, with 88% recognizing that a germline mutation may influence cancer treatment (aid selection of therapy or modify surgical decisions) and 95% acknowledging that it would influence management for a secondary cancer (e.g., extra screening or prophylactic surgery). There was overall agreement that risk assessment is valuable for cancer care with 88% citing that there is high-cost benefit to implementing lifelong surveillance for patients with mutations predisposing to a hereditary cancer syndrome and 81% citing it can identify unaffected individuals who have not developed cancer yet. Physicians had very positive attitudes towards genetic counseling professionals with 93% believing they would be valuable to have as part of the healthcare team. Additionally, as many as 79% of physicians were interested to become involved in genetic counseling-related training sessions and workshops.\u003c/p\u003e \u003cp\u003e \u003cb\u003ePerceived barriers to genetic counseling\u003c/b\u003e \u003c/p\u003e \u003cp\u003e Participants were provided a list of potential barriers to referring a pediatric cancer patient to a genetic counselor and were allowed to choose more than one option. \u003cb\u003eTable\u0026nbsp;3\u003c/b\u003e outlines the frequency of each response chosen. The most selected barrier (42%) was that physicians could refer to an MD geneticist or other physician specialist for genetics related indications. Almost half (48%) of physicians cited concerns that focused on the patient\u0026rsquo;s circumstances like the financial implications of additional cancer surveillance and introducing social stigma for those who carry germline mutations associated with hereditary cancer syndromes. One-sixth (16%) selected a structural barrier such as not having any genetic counselors in the area to make the referrals to. A moderate portion of participants (30%) indicated \u0026ldquo;awareness\u0026rdquo; related challenges to referrals such as not knowing when it would be appropriate to make a referral to a genetic counselor and not being familiar with what genetic counseling can do for their patients. The remaining challenges (8%) selected by participants included intrinsic/foundational barriers like the belief that physicians can order the appropriate genetic testing themselves, genetic counselors are not qualified to assess/interpret risk and that genetic counseling evaluations would not change management for their cancer patients.\u003c/p\u003e \u003c/div\u003e"},{"header":"Discussion","content":"\u003cp\u003ePhysicians surveyed in this study widely recognized the value of genetic counseling in pediatric cancer care; however, the findings indicate a substantial need for education regarding the specific role of genetic counselors and the type of educational training they receive. The majority of physicians reported interest in educational workshops related to genetic counseling. Findings from this study can prioritize educational materials about the duties, responsibilities, and qualifications of a genetic counselor in addition to the sought after resources about cancer genetics.\u003c/p\u003e\n\u003ch3\u003eFamiliarity/Knowledge\u003c/h3\u003e\n\u003cp\u003eMost study participants had knowledges score indicating an overall familiarity with the genetic counseling profession. Physicians who had educational or clinical exposure to genetics were more likely to have a higher knowledge score. Similar trends were observed in a Dutch cohort, where physicians \u003cb\u003ewho have taken an elective course in genetics or provided genetic counseling in their own practice were associated with having higher genetics knowledge scores on a validated questionnaire assessing understanding of genetics and genetic counseling (\u003c/b\u003eBaars et al. \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e2005\u003c/span\u003e) With regards to participants perception of the purpose of genetic counseling, a sizable portion felt that its role is to help couples have a child with desirable characteristics and aims to advise people on whether to have children. This is consistent with findings from a study surveying the Canadian general population\u0026rsquo;s awareness of genetic counseling and found that a considerable portion of the participants consider genetic counseling to be based on similar eugenic values (Maio et al.). Up until the early 20th century, the practice of genetics was underpinned with eugenic motives seeking to improve race through planned breeding and elimination of disabilities but has gradually moved away from this erroneous theory. The remnants of the eugenics philosophy remain for individuals who have not revisited the foundation of modern-day genetic counseling which prioritizes the needs of individuals and families affected by genetic diseases. The societal view of individuals with disabilities has historically been fraught with despair and doubt in the Arab world. There\u0026rsquo;s a sense of guilt among parents of children with disabilities as they assume responsibility of having an affected child. Unmarried couples in Saudi Arabia reported a decision to divorce if they learn their child is affected with a genetic disease, while the majority affirmed, they will not have another child knowing they could be impacted by a genetic disease and would choose abortion in case the pregnancy had already occurred (Arafa et al., 2021). It is possible that healthcare practitioners in Egypt share similar motivation with the Arab general public about utilizing genetics to prevent disabilities and ensure that couple\u0026rsquo;s birth healthy children only. We also found that a relatively common perception of the purpose of genetic counseling that emerged among physicians was the identification of patient\u0026rsquo;s ancestry. It is possible that this misconception developed from the widespread availability of genealogy genetic tests that have become the main motivating factor for customers to purchase direct to consumer testing (DTC) (Pascal, Su, 2011). An overrepresentation of ancestry testing may have resulted in an availability heuristic, leading physicians to easily recall genealogy as a routine test used in genetic evaluation. A large proportion of physicians reported little or no knowledge about the education and certification process of genetic counselors alluding to a limited understanding of the skill set they acquire through graduate training. Previous literature suggests that medical students, residents and practicing physicians may have inaccurate perceptions of the services provided by genetic counselors (Demmer et al. \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2000\u003c/span\u003e). Thus, physicians may be less likely to utilize genetic counselor services if they don\u0026rsquo;t have adequate understanding and confidence in their competencies.\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003eAttitudes\u003c/h2\u003e \u003cp\u003eRegarding physicians\u0026rsquo; attitudes, a majority agreed that it was their responsibility to complete genetic evaluation/risk assessment and counsel patients on genetic test results, which are all functions performed by a genetic counselor in other countries where genetic counseling is predominant. The attitude of physicians in this study were inconsistent with physicians in prior studies. In one survey of 1251 physicians from varying subspecialties in the United States, only 29% reported feeling qualified to provide genetic counseling to their patients while 80% felt that a certified genetic counselor was qualified to provide genetic counseling. Interestingly, most primary and tertiary care physicians in this study thought oncologist are suitable to provide genetic counseling to patients, however, less than half of the oncologist agreed with this statement (Freedman et al., \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e2003\u003c/span\u003e). Similarly, physicians practicing in countries like Korea where genetic counseling is also mostly performed by physicians, 51.9% reported that dealing with complex family aspects is outside the scope of their practice and an important responsibility of a genetic counselor. This was further demonstrated by the Korean physician\u0026rsquo;s self-reported durations for genetic consultations which ranged from 30\u0026ndash;59 minutes and included pre visit actives such as reviewing medical records or literature prior to the visit, whereas the mean duration of a non-genetic consultation was only 6.2 minutes (Kim et al., \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Similar studies assessing physicians\u0026rsquo; knowledge on ethical regulations and techniques related to genetic counseling found that only 20.7% physicians demonstrated proficient knowledge (Tomatir et al., \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2007\u003c/span\u003e). This data distinguishes the responsibilities of genetic counselors by contrasting the \u003cem\u003etype\u003c/em\u003e and \u003cem\u003eduration\u003c/em\u003e of the functions they perform, while challenging the current beliefs of physicians in this study who expect to execute similar tasks without comparable training. However, it\u0026rsquo;s important to frame that Egyptian healthcare does not currently have access to genetic counselors therefore the physician\u0026rsquo;s attitudes may be influenced by their current scope of practice rather than their fundamental belief that they can appropriately provide genetic counseling. Incorporating genetic counselors in pediatric cancer care clinics has demonstrated success in increasing the identification of hereditary cancer syndromes by providing an efficient and comprehensive risk assessment while allowing physicians to prioritize the patient\u0026rsquo;s oncologic needs (Venier et al., \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2022\u003c/span\u003e; Knapke et al., \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2011\u003c/span\u003e; Eichmeyer et al. 2013). A study in Baylor College exploring pediatric oncologists' perspective around returning of germline test results in cancer care found that oncologists emphasized how genetic counselors support was essential in the process. Challenges identified by the oncologist included conveying uncertain information, limit of oncologist\u0026rsquo;s genetic expertise and navigating unanticipated psychological and informational impacts of genetic testing (Hsu et al. 2021). This supports the need for collaboration between genetic counselor and physician to optimize the cancer care for pediatric patients. As cancer genetics continues to evolve in complexity, it would be unreasonable to expect clinicians to provide these comprehensive services. The provision of healthcare in Egypt is currently highly centralized on physicians due to the lack of regulated allied health professions. Past research in Egypt found that non-MD healthcare professions (such as nurses) have had lower level of professional autonomy due to physicians\u0026rsquo; dominant authority (Hossny et al., 2021). In such \u0026ldquo;physician dominant\u0026rdquo; healthcare structures, an extender model can be suitable to transition genetic counseling into clinical care. This collaborative model trains and utilizes nurses as genetic counselor extenders (GCE) to provide basic cancer risk assessment and offer genetic testing by triaging patients with board certified genetic counselors according to complexity and risk (Nixon et al., \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2019\u003c/span\u003e). This ensures that genetic counselors are meeting the growing demand for these services amidst the shortage of genetic healthcare professionals in Egypt.\u003c/p\u003e \u003cp\u003eA significant number of physicians cited that a germline mutation in a cancer predisposition gene may influence the way an existing tumor is treated as well as influence management of secondary cancer risks. Surveillance for patients with hereditary cancer syndromes enables early detection of smaller tumors, allowing for the possibility of less intensive therapy and improved outcome. For example, an 89% 5-year overall survival for Li Fraumeni patients who underwent surveillance, compared to 59% in the non-surveillance group (Villiani et al. 2016). The data from our study supports that Egyptian physicians realize the important role genetic evaluation can have for patients who may be at risk for a hereditary cancer syndrome.\u003c/p\u003e \u003cp\u003eA high percentage of participants reported finding value in the inclusion of a genetic counselors as part of a healthcare team and expressed interested in being involved in genetic counseling related training sessions and workshops. Data surveying physicians practicing in cancer care settings like Greece and Turkey, where genetic counseling is provided by physicians, found that the majority of physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course (Fountzilas et al., \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e2022\u003c/span\u003e; Tomatir et al., \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2007\u003c/span\u003e). Physicians\u0026rsquo; willingness to receive genetic counseling-related educational training and integrate risk assessment into cancer care indicate their recognition of the current and potential value of genetic counselors in Egypt. In the past, successful collaborations have taken place between Children\u0026rsquo;s Cancer Hospital Egypt and the University of Colorado to provide intensive short training courses on utilizing pharmacogenomics in cancer care (Nagy et al. \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2020\u003c/span\u003e). We anticipate similar educational outreach in genetic counseling will be met with the same eagerness.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003eChallenges\u003c/h2\u003e \u003cp\u003eThe most reported barrier to the clinical application of genetic counseling was that physicians could refer to an MD geneticist for genetics related indications. Previous literature studying physicians perceived barriers to genetic counseling in the United States cited the same barrier to referral, suggesting the generalizability of this position among providers practicing in different countries and healthcare settings (Diamonstein et al., \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). While MD geneticists certainly may provide genetic services, previous research shows that they may lack skills necessary to address complex ethical and psychosocial issues (Demmer et al., \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2000\u003c/span\u003e). It has also been reported that patients receiving genetic counseling through physicians may experience incomplete services because of a lack of skill to counsel on the genetic test results ordered (Bensend et al., \u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e2014\u003c/span\u003e). Reported reasons included lack of basic genetic knowledge, misinterpretation of cancer risk and inaccurate interpretation of genetic test results (Klitzman et al. \u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e2013\u003c/span\u003e; Miller et al \u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e2014\u003c/span\u003e; Baars et al., \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e2005\u003c/span\u003e). The downstream negative outcomes were described by Brierley et al. (\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e2010\u003c/span\u003e) and included unnecessary prophylactic surgeries, unnecessary testing, psychological distress, and false reassurance resulting in appropriate medical management. Physicians misunderstanding of the significance of genetic test results can lead to the underutilization of genetic services in high-risk groups, or the overutilization of services in low-risk groups (Wideroff et al. \u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e2005\u003c/span\u003e). In Greece, where genetic counseling is predominantly offered by physicians, 70% of the physicians surveyed reported they would manage a breast cancer patient\u0026rsquo;s genetic test result contrary to the recommended cancer guidelines. While the current guidelines only recommend intervention when a mutation in the BRCA1 is pathogenic (disease causing), the majority of the physicians in the study would continue to recommend the same management even if the mutation is uncertain in its impact to gene function (variant of uncertain significance) (Fountzillas et al, 2022). As such, the literature supports the importance of genetic counseling to address the complex nature of such evaluations from a medical genetics and psychosocial dimension. However, if Egyptian physicians lack awareness about the proficiencies of a genetic counselor, we hypothesize they will be less likely to utilize their services. This supports the importance of educating physicians on the ways which genetic counselors can contribute to cancer care and the unique skills that distinguishes them from MD geneticists or other physicians.\u003c/p\u003e \u003cp\u003ePhysicians denoted patient\u0026rsquo;s financial implications of additional cancer surveillance as a main barrier to their utilization of genetic testing and genetic counseling. As more patients undergo genetic testing, more unaffected \u0026ldquo;previvors\u0026rdquo; are identified with pathogenic variants that increase their risk to develop cancer. Those individuals who have predisposition to cancer but have not yet developed the disease face new challenges like the inability to commit to the recommended cancer screening for multiple reasons like financial burden, accessibility, and scientific illiteracy. For example, the American Association for Cancer Research (AACR) recommends comprehensive tumor screening for children with a pathogenic germline TP53 variant consistent with Li Fraumeni Syndrome. These guidelines include annual physical exams, pelvic ultrasounds, whole body and brain MRI and dermatologic screening. Multiple studies have shown that cost is a primary structural barrier to surveillance among cancer patients identified with a pathogenic variant, particularly among underserved communities (Mittendorf et al., 2023). Physicians practicing in this Egyptian cancer center serve lower socioeconomic patients who could struggle to uptake regular surveillance and/or prophylactic surgeries for additional financial distress on top of the existing burden of cancer treatment. This introduces an ethical concern for physicians surrounding the beneficence of providing genetic testing to individuals who \u003cem\u003edon\u0026rsquo;t\u003c/em\u003e have resources to adhere to the recommended surveillance. As physicians are not necessarily specialized in addressing ethical issues in medical genetics, the role of a genetic counselor may become more pronounced and valuable.\u003c/p\u003e \u003cp\u003eAnother commonly reported barrier to the clinical application of genetic counseling is the potential social stigma it can introduce for patients in their communities. In highly collective societies like Egypt, values are placed on being \u0026ldquo;healthy\u0026rdquo; because it protects individuals from the widespread ableism and discrimination when it comes to marriage or employment. Arab patients can have reluctant attitudes about genetic testing because it may reveal information that ostracizes them communally. The literature demonstrates these concerns in Saudi Arabia, another collective culture, where women report that genetic testing could potentially result in the annulment of their marriage (Alotaibi et al., \u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Similarly in Jordan, a large group of women surveyed expressed interest in genetic test results only if there is public education about genetics to mitigate the harm and social stigma (Abdo et al., \u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). These cultural concerns highlight the unique challenges that Egyptian patients and healthcare providers will face with the increasing availability of genetic testing. Learning about the social stigma from the patient\u0026rsquo;s perspective will be an important next step to outline this concern and explore ways to mitigate it, such as educating the public.\u003c/p\u003e \u003cp\u003eA large proportion of physicians reported not having access to a genetic counselor in addition to not knowing when it would be appropriate to make a referral. There are currently 11 clinics in Egypt offering genetic services for a population of 110\u0026nbsp;million, compared to 1313 clinics in the United States according to the ACMG (Raouf, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e2008\u003c/span\u003e). This structural barrier suggests a need for genetic counselors, but more importantly, a need for educational material outlining the referral process to encourage physician collaboration with genetic counselors when they start providing their services.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eStudy Limitation\u003c/h2\u003e \u003cp\u003eThe present sample of physicians in this study were limited by size and professional characteristics. Although physicians were recruited from various subspecialties, there was overrepresentation of medical oncologists due to a lower uptake of the survey among other physician types. Additionally, this was a single center study thus there may be confounding factors owing to the common genetics\u0026rsquo; exposure from shared meetings, conferences, symposia, and seminars. Therefore, results from our study cannot be generalized to all physician types practicing in cancer care or other Egyptian physicians. Lastly, the survey tools used in our questionnaire were adapted from validated surveys to suit our study population, however the modifications made were not further validated so caution should be taken when drawing absolute conclusions from our data.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusion and Practical Implications","content":" \u003cdiv id=\"Sec14\" class=\"Section2\"\u003e\u003cp\u003eTo our knowledge, this is the first study to explore healthcare professionals\u0026rsquo; position towards the integration of formal genetic counseling in Egypt. The findings of this study assert that Egyptian physicians have moderate familiarity with genetic risk assessment and recognize its value in cancer care. The results reveal difficulty among physicians in discerning the specific tasks performed by genetic counselors and how they can be integrated in the clinical framework. Participants indicated their preparedness to collaborate and become involved in genetics training and educational workshops. The practical implications of these findings can be used to emphasize educational goals that are personalized to the needs of Egyptian physicians. Future research could focus on surveying a larger sample of physicians from varying subspecialities and assess how physicians are currently addressing genetic related issues for patients with hereditary cancer syndromes to identify potential areas of strength and weaknesses. Additionally, research exploring the preferences, concerns and desires of Egyptian cancer patients surrounding genetic testing and genetic counselling could provide clarity about culture-specific barriers such as social stigma or financial implications of additional cancer surveillance.\u003c/p\u003e \u003c/div\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eSoliman, R. 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C., Demirhan, H., \u0026amp; Akdağ, B. (2007). Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. \u003cem\u003eGenetics in medicine : official journal of the American College of Medical Genetics\u003c/em\u003e, \u003cem\u003e9\u003c/em\u003e(2), 130\u0026ndash;135. https://doi.org/10.1097/gim.0b013e3180306880\u003c/li\u003e\n\u003cli\u003eVenier, R. E., Grubs, R. E., Kessler, E., Cooper, K. L., Bailey, K. M., \u0026amp; Meade, J. (2022). Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States. \u003cem\u003eJournal of genetic counseling\u003c/em\u003e, \u003cem\u003e31\u003c/em\u003e(4), 901\u0026ndash;911. https://doi.org/10.1002/jgc4.1559\u003c/li\u003e\n\u003cli\u003eHossny, E. K., \u0026amp; Sabra, H. E. (2021). The attitudes of healthcare professionals towards nurse-physician collaboration. 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M., \u0026amp; Niendorf, K. B. (2014). What\u0026apos;s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals. Journal of genetic counseling, 23(1), 48\u0026ndash;63. https://doi.org/10.1007/s10897-013-9605-3\u003c/li\u003e\n\u003cli\u003eKlitzman, R., Chung, W., Marder, K., Shanmugham, A., Chin, L. J., Stark, M., Leu, C. S., \u0026amp; Appelbaum, P. S. (2013). Attitudes and practices among internists concerning genetic testing. \u003cem\u003eJournal of genetic counseling\u003c/em\u003e, \u003cem\u003e22\u003c/em\u003e(1), 90\u0026ndash;100. https://doi.org/10.1007/s10897-012-9504-z\u003c/li\u003e\n\u003cli\u003eMiller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., \u0026amp; Lagrave, D. (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. \u003cem\u003eAmerican journal of medical genetics. Part A\u003c/em\u003e, \u003cem\u003e164A\u003c/em\u003e(5), 1094\u0026ndash;1101. https://doi.org/10.1002/ajmg.a.36453\u003c/li\u003e\n\u003cli\u003eWideroff, L., Vadaparampil, S. T., Greene, M. H., Taplin, S., Olson, L., \u0026amp; Freedman, A. N. (2005). Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. Journal of Medical Genetics, 42(10), 749\u0026ndash;755.\u003c/li\u003e\n\u003cli\u003eBrierley, K. L., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., Schwartz, R. C., \u0026amp; Matloff, E. T. (2010). Errors in delivery of cancer genetics services: implications for practice. \u003cem\u003eConnecticut medicine\u003c/em\u003e, \u003cem\u003e74\u003c/em\u003e(7), 413\u0026ndash;423.\u003c/li\u003e\n\u003cli\u003eMittendorf, K. F., Knerr, S., Kauffman, T. L., Lindberg, N. M., Anderson, K. P., Feigelson, H. S., Gilmore, M. J., Hunter, J. E., Joseph, G., Kraft, S. A., Zepp, J. M., Syngal, S., Wilfond, B. S., \u0026amp; Goddard, K. A. B. (2021). Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. \u003cem\u003eJCO precision oncology\u003c/em\u003e, \u003cem\u003e5\u003c/em\u003e, PO.21.00233. https://doi.org/10.1200/PO.21.00233\u003c/li\u003e\n\u003cli\u003eAlotaibi, A., Alkhaldi, N. K., AlNassir, A. M., AlAyoubi, L. A., AlMalki, N. A., Almughyiri, R. A., AlDosary, R. H., \u0026amp; Cordero, M. A. W. (2022). Exploring People\u0026apos;s Knowledge of Genetics and Attitude towards Genetic Testing: A Cross-Sectional Study in a Population with a High Prevalence of Consanguinity. \u003cem\u003eHealthcare (Basel, Switzerland)\u003c/em\u003e, \u003cem\u003e10\u003c/em\u003e(11), 2227. https://doi.org/10.3390/healthcare10112227\u003c/li\u003e\n\u003cli\u003eAbdo, N., Ibraheem, N., Obeidat, N., Graboski-Bauer, A., Batieha, A., Altamimi, N., \u0026amp; Khatatbih, M. (2018). Knowledge, Attitudes, and Practices of Women Toward Prenatal Genetic Testing. Epigenetics insights, 11, 2516865718813122. https://doi.org/10.1177/2516865718813122\u003c/li\u003e\n\u003cli\u003eRaouf R. (2008). Capacity Building for the Transfer of Genetic Knowledge into Practice and Prevention. \u003cem\u003eGenet. Serv. Egypt: Curr. Situation Needs Assess.\u003c/em\u003e Capabilitynet.eu. [Cited 2022 Feb 4]. Available from: http://www.capabilitynet.eu/Documents/Needs_Assesement_CAPABILITY_Egypt.pdf.\u003c/li\u003e\n\u003c/ol\u003e"},{"header":"Tables","content":"\u003cp\u003eTables 1 to 3 are available in the Supplementary Files section.\u003c/p\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":true,"hideJournal":true,"highlight":"","institution":"Children's Cancer Hospital, Egypt (CCHE)","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"genetic counselling, pediatric oncology, childhood cancer, genetics","lastPublishedDoi":"10.21203/rs.3.rs-4854270/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4854270/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003ePurpose: \u003c/strong\u003eConsidering the significant frequency of consanguinity in Egypt, a large portion of its childhood cancers may have an underlying hereditary component. The preparedness of physicians in the pediatric cancer setting to collaborate with genetic counselors is vital to provide the needed care.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMethods:\u003c/strong\u003e We conducted a cross-sectional survey aiming to evaluate the level of genetic counselling knowledge and awareness among Egyptian physicians in a large pediatric cancer center, and the barriers they perceive to its implementation.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults:\u003c/strong\u003e A total of 150 physicians were invited, of which, 52 responded to the questionnaire. Most of the participants were oncologists (86.5%), and 9.6% were from other subspecialties such as surgery, pathology, and radiology. The majority had practical exposure to genetics in clinic with 75% (39/52) reporting involvement in a case with hereditary cancer syndrome. The average knowledge score (SD) was 42.1 (6.9) out of 60. Knowledge scores were greater in those who had educational exposure to genetics.\u003cstrong\u003e \u003c/strong\u003eMost of the participants (76%) incorrectly agreed that a purpose of genetic counseling is to advise people on whether to have children. A sizeable portion (21%) didn’t know the type of training or education that a genetic counselor acquires. Overall, attitudes towards genetic counseling were positive. The most perceived barrier (42%) was their referral to an MD geneticist or other physician specialist for genetics related indications.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions: \u003c/strong\u003eEgyptian physicians working in pediatric cancer care have moderate familiarity with genetic risk assessment and recognize its value. However, there is a difficulty in discerning the specific tasks performed by genetic counselors and how they can be integrated in the clinical framework.\u003c/p\u003e","manuscriptTitle":"Physician preparedness for genetic counseling in a pediatric cancer center in Egypt","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-08-09 00:40:14","doi":"10.21203/rs.3.rs-4854270/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"6f368aca-533b-42d9-ada3-5e266b786967","owner":[],"postedDate":"August 9th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[{"id":35543992,"name":"Medical Genetics"},{"id":35543993,"name":"Pediatrics"},{"id":35543994,"name":"Oncology"}],"tags":[],"updatedAt":"2024-08-09T00:40:14+00:00","versionOfRecord":[],"versionCreatedAt":"2024-08-09 00:40:14","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4854270","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4854270","identity":"rs-4854270","version":["v1"]},"buildId":"qtupq5eGEP_6zYnWcrvyt","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}