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Assessing the prevalence of unmet need for genetic counseling in Canada and exploring associations with sociodemographic factors

European Journal of Human Genetics volume 33, pages 633–641 (2025)Cite this article

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Abstract

Understanding the prevalence and distribution of unmet need for genetic counseling (GC) can help inform health human resource planning. It is known that not all patients who could benefit from GC are currently accessing it, however, the prevalence of unmet need in Canada is unknown. Using a cross-sectional design, we surveyed 1160 Canadians to estimate the prevalence and distribution of unmet need for GC. The survey included measures of unmet need (NSGC Pathways Tool), personal utility (PrU), capability (ICECAP-A), distrust in healthcare (Revised Health Care System Distrust Scale) and demographic variables. A market research company (Leger Opinion Panel) was used for recruitment. We used descriptive statistics to estimate prevalence and multivariable regression to explore factors associated with unmet need. We found that 39% of respondents (457/1160) had unmet need for GC and 68% of this unmet need was unperceived. In the multivariable regression analysis, unmet need for GC was more likely in individuals who: had a mental health condition, were younger (\(\le\)45 yo), reported higher personal utility, and lower levels of capability (all p < 0.05 in multivariable analysis). There is a high prevalence of unmet need for GC in Canada and individuals experiencing other challenges to accessing healthcare may also be more likely to have unmet need for GC.

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Data availability

The data that support this study may be available on reasonable request from the corresponding author. Some data will not be made available to protect the privacy and confidentiality of participants.

References

  1. Austin J. Defining “genetic counseling research. J Genet Couns. 2024;33:476–80.

    Article  PubMed  Google Scholar 

  2. Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling. J Genet Couns. 2017;26:361–78.

    Article  PubMed  Google Scholar 

  3. Payne K, Nicholls S, McAllister M, MacLeod R, Donnai D, Davies LM. Outcome measurement in clinical genetics services: A systematic review of validated measures. Value Health. 2008;11:497–508.

    Article  PubMed  Google Scholar 

  4. Morris E, Batallones R, Ryan J, Slomp C, Carrion P, Albert A, et al. Psychiatric genetic counseling for serious mental illness: Impact on psychopathology and psychotropic medication adherence. Psychiatry Res. 2021;296:113663.

    Article  PubMed  Google Scholar 

  5. Rutherford S, Zhang X, Atzinger C, Ruschman J, Myers MF. Medical management adherence as an outcome of genetic counseling in a pediatric setting. Genet Med. 2014;16:157–63.

    Article  PubMed  Google Scholar 

  6. Zakas AL, Leifeste C, Dudley B, Karloski E, Afonso S, Grubs RE, et al. The impact of genetic counseling on patient engagement in a specialty cancer clinic. J Genet Couns. 2019;28:974–81.

    Article  PubMed  Google Scholar 

  7. Kelly KM, Ellington L, Schoenberg N, Jackson T, Dickinson S, Porter K, et al. Genetic counseling content: How does it impact health behavior? J Behav Med. 2015;38:766–76.

    Article  PubMed  Google Scholar 

  8. Huynh S, Morris E, Inglis A, Austin J. Behavioral changes after psychiatric genetic counseling: An exploratory study. Public Health Genom. 2023;26:35–44.

    Article  Google Scholar 

  9. Ison HE, Ware SM, Schwantes-An TH, Freeze S, Elmore L, Spoonamore KG. The impact of cardiovascular genetic counseling on patient empowerment. J Genet Couns. 2019;28:570–7.

    Article  PubMed  Google Scholar 

  10. Hollands GJ, French DP, Griffin SJ, Prevost AT, Sutton S, King S, et al. The impact of communicating genetic risks of disease on risk-reducing health behaviour: Systematic review with meta-analysis. BMJ. 2016;352:i1102.

  11. Norcross J. An eclectic definition of psychotherapy. In: Zeig J, Munion W, editors. What is Psychotherapy? Contemporary Perspectives. San Fransisco: Jossey-Bass; 1990. pp. 218–20.

  12. Austin J, Semaka A, Hadjipavlou G. Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. J Genet Couns. 2014;23:903–9.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Dragojlovic N, Kopac N, Borle K, Tandun R, Salmasi S, Ellis U, et al. Utilization and uptake of clinical genetics services in high-income countries: A scoping review. Health Pol. 2021;125:877–87.

    Article  Google Scholar 

  14. Willis AM, Smith SK, Meiser B, Ballinger ML, Thomas DM, Young MA. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review. Clin Genet. 2017;92:121–33.

    Article  CAS  PubMed  Google Scholar 

  15. Southwick SV, Esch R, Gasser R, Cragun D, Redlinger-Grosse K, Marsalis S, et al. Racial and ethnic differences in genetic counseling experiences and outcomes in the United States: A systematic review. J Genet Couns. 2020;29:147–65.

    Article  PubMed  Google Scholar 

  16. Young JL, Mak J, Stanley T, Bass M, Cho MK, Tabor HK. Genetic counseling and testing for Asian Americans: a systematic review. Genet Med. 2021;23:1424–37.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Shaw T, Metras J, Ting ZAL, Courtney E, Li ST, Ngeow J. Impact of appointment waiting time on attendance rates at a clinical cancer genetics service. J Genet Couns. 2018;27:1473–81.

    Article  PubMed  Google Scholar 

  18. Allin S, Grignon M, Le Grand J. Subjective unmet need and utilization of health care services in Canada: What are the equity implications? Soc Sci Med. 2010;70:465–72.

    Article  PubMed  Google Scholar 

  19. Rolnick SJ, Rahm AK, Jackson JM, Nekhlyudov L, Goddard KAB, Field T, et al. Barriers in identification and referral to genetic counseling for familial cancer risk: The perspective of genetic service providers. J Genet Couns. 2011;20:314–22.

    Article  PubMed  Google Scholar 

  20. Leach E, Morris E, White HJ, Inglis A, Lehman A, Austin J. How do physicians decide to refer their patients for psychiatric genetic counseling? A qualitative study of physicians’ practice. J Genet Couns. 2016;25:1235–42.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Maio M, Carrion P, Yaremco E, Austin JC. Awareness of genetic counseling and perceptions of its purpose: A survey of the Canadian public. J Genet Couns. 2013;22:762–70.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Tomblin Murphy G, Birch S, MacKenzie A, Bradish S, Elliott Rose A. A synthesis of recent analyses of human resources for health requirements and labour market dynamics in high-income OECD countries. Hum Resour Health. 2016;14:59.

  23. Birch S, Kephart G, Murphy GT, O’Brien-Pallas L, Alder R, MacKenzie A. Health human resources planning and the production of health: development of an extended analytical framework for needs-based health human resources planning. J Public Health Manag Pract. 2009;15:56–61.

    Article  Google Scholar 

  24. Hurley J. Chapter 2 An overview of the normative economics of the health sector [Internet]. Vol. 1, Handbook of Health Economics. Elsevier Science B.V.; 2000. 55–118 p. Available from: https://doi.org/10.1016/S1574-0064(00)80161-4.

  25. Borle K, Kopac N, Dragojlovic N, Llorian ER, Lynd LD, Study G. Defining need amid exponential change: Conceptual challenges in workforce planning for clinical genetic services. Clin Ther. 2023;45:695–701.

    Article  PubMed  Google Scholar 

  26. Costa T, Gillies B, Oh T, Scott J. The Canadian genetic counseling workforce: Perspectives from employers and recent graduates. J Genet Couns. 2021;30:406–17.

    Article  PubMed  Google Scholar 

  27. Dragojlovic N, Borle K, Kopac N, Ellis U, Birch P, Adam S, et al. The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review. Genet Med. 2020;22:1437–49.

    Article  PubMed  Google Scholar 

  28. Benusiglio PR, Di Maria M, Dorling L, Jouinot A, Poli A, Villebasse S, et al. Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling. Fam Cancer. 2017;16:51–6.

    Article  PubMed  Google Scholar 

  29. Hynes J, MacMillan A, Fernandez S, Jacob K, Carter S, Predham S, et al. Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction. Hered Cancer Clin Pract. 2020;18:1–7.

    Article  Google Scholar 

  30. Sweet K, Sturm AC, Schmidlen T, McElroy J, Scheinfeldt L, Manickam K, et al. Outcomes of a randomized controlled trial of genomic counseling for patients receiving personalized and actionable complex disease reports. J Genet Couns. 2017;26:980–98.

    Article  PubMed  PubMed Central  Google Scholar 

  31. Suckiel SA, Odgis JA, Gallagher KM, Rodriguez JE, Watnick D, Bertier G, et al. GUÍA: a digital platform to facilitate result disclosure in genetic counseling. Genet Med. 2021;23:942–9.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Schmidlen T, Schwartz M, DiLoreto K, Kirchner HL, Sturm AC. Patient assessment of chatbots for the scalable delivery of genetic counseling. J Genet Couns. 2019;28:1166–77.

    Article  PubMed  Google Scholar 

  33. Hoskovec JM, Bennett RL, Carey ME, DaVanzo JE, Dougherty M, Hahn SE, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27:16–20.

    Article  PubMed  Google Scholar 

  34. Eckstein L, Helm BM, Baud R, Francomano CA, Halverson C. Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors. J Genet Couns. 2023:33;1215–25.

  35. Ghaferi AA, Schwartz TA, Pawlik TM. STROBE Reporting Guidelines for Observational Studies. JAMA Surg. 2021;156:577–9.

  36. Canadian Institute for Health Information. Guidance on the Use of Standards for Race-Based and Indigenous Identity Data Collection and Health Reporting in Canada. CIHI. 2022. Available from: https://www.cihi.ca/en/race-based-and-indigenous-identity-data.

  37. National Society of Genetic Counselors. How could a genetic counselor help you? 2021. Available from: https://nsgc.qualtrics.com/jfe/form/SV_3xefjx91UIHcm5E.

  38. Senter L, Austin JC, Carey M, Cho MT, Harris SL, Linnenbringer EL, et al. Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force. J Genet Couns. 2020;29:884–7.

  39. Coast J, Kinghorn P, Mitchell P. The development of capability measures in health economics: Opportunities, challenges and progress. Patient. 2015;8:119–26.

    Article  PubMed  Google Scholar 

  40. Al-Janabi H, Flynn TN, Coast J. Development of a self-report measure of capability wellbeing for adults: The ICECAP-A. Qual Life Res. 2012;21:167–76.

    Article  PubMed  Google Scholar 

  41. Flynn TN, Huynh E, Peters TJ, Al-Janabi H, Clemens S, Moody A, et al. Scoring the ICECAP-A capability instrument. Estimation of a UK general population tariff. Health Econ. 2015;24:258–69.

    Article  PubMed  Google Scholar 

  42. Payne K, Eden M. Measuring the economic value of genetic counselling. Eur J Med Genet. 2019;62:385–9.

    Article  PubMed  Google Scholar 

  43. Davison N, Payne K, Eden M, McAllister M, Roberts SA, Ingram S, et al. Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example. Genet Med. 2017;19:1032–9.

    Article  PubMed  Google Scholar 

  44. Turbitt E, Kohler J, Angelo F, Miller I, Lewis K, Goddard K, et al. The PrU: development and validation of a measure to assess personal utility of genomic results. Genet Med. 2022;25:1120–43.

    Google Scholar 

  45. Kohler JN, Turbitt E, Lewis KL, Wilfond BS, Jamal L, Peay HL, et al. Defining personal utility in genomics: A Delphi study. Clin Genet. 2017;92:290–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  46. Shea JA, Micco E, Dean LT, McMurphy S, Schwartz JS, Armstrong K. Development of a revised health care system distrust scale. J Gen Intern Med. 2008;23:727–32.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Kohler JN, Turbitt E, Biesecker BB. Personal utility in genomic testing: A systematic literature review. Euro J Hum Genet. 2017;25:662–8.

    Article  Google Scholar 

  48. Stoltzfus JC. Logistic regression: A brief primer. Acad Emerg Med. 2011;18:1099–104.

    Article  PubMed  Google Scholar 

  49. Pourhoseingholi MA, Vahedi M, Rahimzadeh M. Sample size calculation in medical studies. Gastroenterol Hepatol Bed Bench. 2013;6:14–7.

    PubMed  PubMed Central  Google Scholar 

  50. Humphreys L, Hunter A, Zimak A, O’Brien A, Korneluk Y, Cappelli M. Why patients do not attend for their appointments at a genetics clinic. J Med Genet. 2000;37:810–5.

  51. Richter LD, Morley TJ, Hooker GW, Peay HL, Cox NJ, Ruderfer DM. Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders. J Genet Couns. 2022;31:1008–15.

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Acknowledgements

The authors offer gratitude to the Coast Salish Peoples, including the xʷməθkwəy̓əm (Musqueam), Skwxwú7mesh (Squamish), and Səl̓ílwətaʔ/Selilwitulh (Tsleil-Waututh) Nations, on whose traditional, unceded and ancestral territory we have the privilege of working. The authors thank Kehna Yip for her feedback on earlier drafts of the survey and Jared Warden-Joseph and Sophie Albert for their translation efforts.

Funding

Kennedy Borle was supported by a CIHR Banting and Best Doctoral Fellowship and received additional funding from the BCCHR Brain, Behaviour, and Development Trainee award and the UBC Public Scholar Initiative to complete this research. The funders had no role in review or approval of the manuscript.

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Author notes

  1. These authors contributed equally: Jehannine Austin, Larry D. Lynd.

Authors and Affiliations

  1. Interdisciplinary Studies Program, Faculty of Graduate and Postdoctoral Studies, University of British Columbia, Vancouver, BC, Canada

    Kennedy Borle

  2. Departments of Psychiatry & Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada

    Jehannine Austin

  3. Collaboration for Outcomes Research and Evaluation Faculty of Pharmaceutical Sciences, University of British Columbia, Centre for Advancing Health Outcomes, Providence Health Research Institute, Vancouver, BC, Canada

    Larry D. Lynd

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  1. Kennedy Borle
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  2. Jehannine Austin
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  3. Larry D. Lynd
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Contributions

Kennedy Borle: conceptualization, methodology, formal analysis, investigation, writing – original draft, writing – review & editing, project administration, funding acquisition. Jehannine Austin: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. Larry Lynd: conceptualization, methodology, formal analysis, resources, writing – review & editing, supervision, project administration, funding acquisition. All of the authors gave final approval of this version to be published and agree to be accountable for all aspects of the work.

Corresponding authors

Correspondence to Jehannine Austin or Larry D. Lynd.

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Competing interests

KB, JA, and LL declare that they have no conflicts of interest to disclose. JA is the Editor-in-Chief of the Journal of Genetic Counseling and President of the International Society of Psychiatric Genetics.

Ethics

Informed consent was obtained from all participants in this research study. This study was approved by the University of British Columbia Research Ethics Board (Certificate H22-10827).

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Borle, K., Austin, J. & Lynd, L.D. Assessing the prevalence of unmet need for genetic counseling in Canada and exploring associations with sociodemographic factors. Eur J Hum Genet 33, 633–641 (2025). https://doi.org/10.1038/s41431-025-01812-1

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