Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Review Article
  • Published:

Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review

European Journal of Human Genetics (2025)Cite this article

Subjects

Abstract

Genetic testing has revolutionized the identification of individuals at increased risk for various hereditary conditions, enabling early intervention and preventive measures. However, effective cascade counseling and testing depends on successful intra-familial communication. This mixed-method systematic review aimed to explore the general population’s perspectives and preferences regarding the communication of potential genetic risk information by healthcare professionals. This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered in the International Prospective Register of Systematic Reviews database (CRD42024532829). A comprehensive search of six databases yielded 17,292 records. After removing duplicates and screening for relevance, nine studies were included in the final analysis, conducted across diverse Western countries using both qualitative and quantitative designs. Results indicated a preference for healthcare-mediated communication, particularly through formal methods as letters, valued for their clarity and reliability. The role of family-mediated communication is nuanced, influenced by interpersonal relationship quality and the emotional burden of disclosing sensitive information. Ethical and legal considerations highlighted public support for overriding confidentiality in treatable conditions, while emphasizing respect for individual privacy and autonomy in untreatable conditions. This review underscores the importance of understanding public preferences to develop tailored communication strategies that balance professional involvement with respect for individual and familial dynamics. Healthcare professionals should be trained to provide empathetic, clear, and accurate information, considering the specific needs and contexts of at-risk individuals.

Access through your institution
Buy or subscribe

This is a preview of subscription content, access via your institution

Access options

Access through your institution

Buy this article

  • Purchase on SpringerLink
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: PRISMA 2020 flow diagram of the selection process of the articles.

Similar content being viewed by others

Data availability

Data on subsequent steps of literature search and selection are available upon request.

References

  1. Alonso R, Perez de Isla L, Muñiz-Grijalvo O, Diaz-Diaz JL, Mata P. Familial hypercholesterolaemia diagnosis and management. Eur Cardiol Rev. 2018;13:14–20. https://doi.org/10.15420/ecr.2018:10:2.

    Article  Google Scholar 

  2. Dheensa S, Fenwick A, Shkedi-Rafid S, Crawford G, Lucassen A. Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research. Genet Med. 2016;18:290–301. https://doi.org/10.1038/gim.2015.72.

    Article  CAS  PubMed  Google Scholar 

  3. Menko FH, Ter Stege JA, van der Kolk LE, Jeanson KN, Schats W, Moha DA, et al. The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. Fam Cancer. 2019;18:127–35. https://doi.org/10.1007/s10689-018-0089-z.

    Article  CAS  PubMed  Google Scholar 

  4. Parker M, Lucassen A. Using a genetic test result in the care of family members: how does the duty of confidentiality apply? Eur J Hum Genet. 2018;26:955–9. https://doi.org/10.1038/s41431-018-0138-y.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK, et al. Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? a systematic review and meta-analysis. J Clin Oncol: J Am Soc Clin Oncol. 2022;40:4129–43. https://doi.org/10.1200/JCO.22.00303.

    Article  Google Scholar 

  6. Trevisan L, Godino L, Battistuzzi L, Innella G, Luppi E, Buzzatti G, et al. Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? Fam cancer. 2024;23:197–207. https://doi.org/10.1007/s10689-023-00349-w.

    Article  CAS  PubMed  Google Scholar 

  7. Daly MB, Montgomery S, Bingler R, Ruth K. Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study. Fam Cancer. 2016;15:697–706. https://doi.org/10.1007/s10689-016-9889-1.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Srinivasan S, Won NY, Dotson WD, Wright ST, Roberts MC. Barriers and facilitators for cascade testing in genetic conditions: a systematic review. Eur J Hum Genet Eur J Hum Genet. 2020;28:1631–44. https://doi.org/10.1038/s41431-020-00725-5.

    Article  PubMed  Google Scholar 

  9. Austin J. Re‐conceptualizing risk in genetic counseling: implications for clinical practice. J Genet Couns. 2010;19:228–34. https://doi.org/10.1007/s10897-010-9279-z.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Shah L, Daack‐Hirsch S, Ersig A, Paik A, Ahmad F, Williams J. Family relationships associated with communication and testing for inherited cardiac conditions. West J Nurs Res. 2018;41:1576–601. https://doi.org/10.1177/0193945918817039.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Wiens M, Wilson B, Honeywell C, Etchegary H. A family genetic risk communication framework: guiding tool development in genetics health services. J Community Genet. 2013;4:233–42. https://doi.org/10.1007/s12687-012-0134-9.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Dheensa S, Fenwick A, Lucassen A. Is this knowledge mine and nobody else’s? I don’t feel that.’Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics. 2016;42:174–9. https://doi.org/10.1136/medethics-2015-102781.

    Article  PubMed  Google Scholar 

  13. Dheensa S, Lucassen A, Fenwick A. Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals. J Genet Couns. 2018;27:689–701. https://doi.org/10.1007/s10897-017-0164-x.

    Article  PubMed  Google Scholar 

  14. Varkey B. Principles of clinical ethics and their application to practice. Med Princ Pract: Int J Kuwait Univ Health Sci Cent. 2021;30:17–28. https://doi.org/10.1159/000509119.

    Article  Google Scholar 

  15. Aktan-Collan K, Haukkala A, Pylvänäinen K, Järvinen HJ, Aaltonen LA, Peltomäki P, et al. Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. J Med Genet. 2007;44:732–8. https://doi.org/10.1136/jmg.2007.051581.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Henrikson NB, Blasi P, Figueroa Gray M, Tiffany BT, Scrol A, Ralston JD, et al. Patient and family preferences on health system-led direct contact for cascade screening. J Pers Med. 2021;11:538 https://doi.org/10.3390/jpm11060538.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Tiller J, Nowak K, Boughtwood T, Otlowski M. Privacy implications of contacting the at-risk relatives of patients with medically actionable genetic predisposition, with patient consent: a hypothetical Australian case study. BioTech. 2023;12:45.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Privacy Amendment (Enhancing Privacy Protection) Act No 24 (2024) (Australia) https://www.legislation.gov.au/C2004A03712/latest/text (accessed on 12 December 2024).

  19. Henrikson, NB, Wagner, JK, Hampel, H, DeVore, C, Shridhar, N, Williams, JL, et al. (2020) What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing? J Law Biosci 7. https://doi.org/10.1093/jlb/lsaa071.

  20. Law No. 2021–1017 dated 2 August 2011 (art. 15) Code de la santé publique. L1131-1, JORF, 2021. https://www.legifrance.gouv.fr/codes/section_lc/LEGITEXT000006072665/LEGISCTA000006171009/#LEGISCTA000043895848 (accessed on 12 December 2024).

  21. Lindberg, LJ, Wadt, KA, Therkildsen, C, & Petersen, HV (2024) National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families-The Danish Model. https://doi.org/10.3390/cancers16081577.

  22. Menko FH, Aalfs CM, Henneman L, Stol Y, Wijdenes M, Otten E, et al. Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Fam Cancer. 2013;12:319–24. https://doi.org/10.1007/s10689-013-9636-9.

    Article  PubMed  Google Scholar 

  23. Marleen van den Heuvel L, Stemkens D, van Zelst-Stams WAG, Willeboordse F, Christiaans I. How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population. J Genet Couns. 2020;29:786–99. https://doi.org/10.1002/jgc4.1206.

    Article  PubMed  Google Scholar 

  24. Dutch Clinical Genetics Society (VKGN) (2019) Richtlijn Informeren van familieleden bij erfelijke aandoeningen. https://www.vkgn.org/files/5911/Richtlijn%20informeren%20van%20familieleden%20bij%20erfelijke%20aandoeningen.pdf (accessed on 10 September 2024).

  25. Duttge G. The right to know and not to know: predictive genetic diagnosis and non-diagnosis. Recent results cancer Res Fortschr der Krebsforsch Prog dans les Rech sur le cancer. 2021;218:67–83. https://doi.org/10.1007/978-3-030-63749-1_6.

    Article  CAS  Google Scholar 

  26. Pluye P, Hong QN. Combining the power of stories and the power of numbers: mixed methods research and mixed studies reviews. Annu Rev public health. 2014;35:29–45. https://doi.org/10.1146/annurev-publhealth-032013-182440.

    Article  PubMed  Google Scholar 

  27. Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. Int J Surg (Lond, Engl). 2021;88:105906 https://doi.org/10.1016/j.ijsu.2021.105906.

    Article  Google Scholar 

  28. Cooke A, Smith D, Booth A. Beyond PICO: the SPIDER tool for qualitative evidence synthesis. Qualitat Health Res. 2012;22:1435–43. https://doi.org/10.1177/1049732312452938.

    Article  Google Scholar 

  29. Godino L. How to structure Microsoft Excel documents for systematic reviews. Nurse Res. 2023;31:40–6. https://doi.org/10.7748/nr.2023.e1866.

    Article  PubMed  Google Scholar 

  30. Palese A, Mansutti I, Visintini E, Caruzzo D, Moreale R, Longhini J, et al. Framing the time while designing and conducting reviews: A Focused Mapping Review and Synthesis. J Clin Nurs. 2022;31:3523–34. https://doi.org/10.1111/jocn.16180.

    Article  PubMed  Google Scholar 

  31. Kmet LM, Lee RC, Cook LS. Standard quality assessment criteria for evaluating primary research papers from a variety of fields. HTA Initiat. 2004;13:1–28. https://doi.org/10.5858/arpa.2020-0217-sa.

    Article  CAS  Google Scholar 

  32. Stern C, Lizarondo L, Carrier J, Godfrey C, Rieger K, Salmond S, et al. Methodological guidance for the conduct of mixed methods systematic reviews. JBI Evid Synth. 2020;18:2108–18. https://doi.org/10.11124/JBISRIR-D-19-00169.

    Article  PubMed  Google Scholar 

  33. Onwuegbuzie AJ. Effect sizes in qualitative research: a prolegomenon. Qual Quant. 2003;37:393–409. https://doi.org/10.1023/a:1027379223537.

    Article  Google Scholar 

  34. Hawranek C, Hajdarevic S, Rosén A. A focus group study of perceptions of genetic risk disclosure in members of the public in Sweden: “I’ll Phone the Five Closest Ones, but What Happens to the Other Ten?”. J Pers Med. 2021;11:1191 https://doi.org/10.3390/jpm11111191.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Andersson A, Hawranek C, Öfverholm A, Ehrencrona H, Grill K, Hajdarevic S, et al. Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden. Hered Cancer Clin Pr. 2020;15:18–30. https://doi.org/10.1186/s13053-020-00151-0.

    Article  Google Scholar 

  36. Heaton TJ, Chico V. Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey. Hum Genet. 2016;135:109–20. https://doi.org/10.1007/s00439-015-1612-z.

    Article  PubMed  Google Scholar 

  37. Maxwell SJ, Molster CM, Poke SJ, O’Leary P. Communicating familial hypercholesterolemia genetic information within families. Genet Test Mol Biomark. 2009;13:301–6. https://doi.org/10.1089/gtmb.2008.0138.

    Article  Google Scholar 

  38. Petersen HV, Frederiksen BL, Lautrup CK, Lindberg LJ, Ladelund S, Nilbert M. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. Fam cancer. 2019;18:43–51. https://doi.org/10.1007/s10689-018-0083-5.

    Article  CAS  PubMed  Google Scholar 

  39. Phillips A, Dewitte I, Debruyne B, Vears DF, Borry P. Disclosure of genetic risk in the family: a survey of the Flemish general population. Eur J Med Genet. 2023;66:104800 https://doi.org/10.1016/j.ejmg.2023.104800.

    Article  CAS  PubMed  Google Scholar 

  40. Tiller JM, Stott A, Finlay K, Boughtwood T, Madelli EO, Horton A, et al. Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public. Eur J Hum Genet: Eur J Hum Genet. 2024;32:98–108. https://doi.org/10.1038/s41431-023-01395-9.

    Article  PubMed  Google Scholar 

  41. Wolff K, Brun W, Kvale G, Nordin K. Confidentiality versus duty to inform-an empirical study on attitudes towards the handling of genetic information. Am J Med Genet Part A. 2007;143A:142–8. https://doi.org/10.1002/ajmg.a.31467.

    Article  PubMed  Google Scholar 

  42. Van den Heuvel LM, Smets EMA, van Tintelen JP, Christiaans I. How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes. J Genet Couns. 2019;28:1042–58. https://doi.org/10.1002/jgc4.1143.

    Article  PubMed  Google Scholar 

  43. Zhu X, Smith RA, Parrott RL. Living with a rare health condition: the influence of a support community and public stigma on communication, stress, and available support. J Appl Commun Res. 2017;45:179–98. https://doi.org/10.1080/00909882.2017.1288292.

    Article  PubMed  PubMed Central  Google Scholar 

  44. Leenen CH, Heijer MD, van der Meer C, Kuipers EJ, van Leerdam ME, Wagner A. Genetic testing for Lynch syndrome: family communication and motivation. Fam cancer. 2016;15:63–73. https://doi.org/10.1007/s10689-015-9842-8.

    Article  CAS  PubMed  Google Scholar 

  45. Marks D, Thorogood M, Neil SM, Humphries SE, Neil HA. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screen. 2006;13:156–9. https://doi.org/10.1258/096914106778440617.

    Article  CAS  PubMed  Google Scholar 

  46. Suthers GK, Armstrong J, McCormack J, Trott D. Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet. 2006;43:665–70. https://doi.org/10.1136/jmg.2005.039172.

    Article  CAS  PubMed  Google Scholar 

  47. Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, et al. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. Eur J Hum Genet. 2021;29:250–61. https://doi.org/10.1038/s41431-020-00723-7.

    Article  PubMed  Google Scholar 

  48. Weaver M. The double helix: applying an ethic of care to the duty to warn genetic relatives of genetic information. Bioethics. 2016;30:181–7. https://doi.org/10.1111/bioe.12176.

    Article  PubMed  Google Scholar 

  49. Mesters I, Ausems M, Eichhorn S, Vasen H. Informing one’s family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study. Fam cancer. 2005;4:163–7. https://doi.org/10.1007/s10689-004-7992-1.

    Article  PubMed  Google Scholar 

  50. Stoffel EM, Ford B, Mercado RC, Punglia D, Kohlmann W, Conrad P, et al. Sharing genetic test results in Lynch syndrome: communication with close and distant relatives. Clin Gastroenterol Hepatol : Clin Pr J Am Gastroenterol Assoc. 2008;6:333–8. https://doi.org/10.1016/j.cgh.2007.12.014.

    Article  Google Scholar 

  51. Hamilton R, Williams JK, Bowers BJ, Calzone K. Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. J Genet Couns. 2009;18:147–59. https://doi.org/10.1007/s10897-008-9200-1.

    Article  PubMed  Google Scholar 

  52. Geer KP, Ropka ME, Cohn WF, Jones SM, Miesfeldt S. Factors influencing patients’ decisions to decline cancer genetic counseling services. J Genet Couns. 2001;10:25–40. https://doi.org/10.1023/a:1009451213035.

    Article  CAS  PubMed  Google Scholar 

  53. Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H. Impact of presymptomatic genetic testing on young adults: a systematic review. Eur J Hum Genet. 2016;24:496–503. https://doi.org/10.1038/ejhg.2015.153.

    Article  PubMed  Google Scholar 

  54. Godino L, Jackson L, Turchetti D, Hennessy C, Skirton H. Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study. Eur J Hum Genet. 2018;26:44–53. https://doi.org/10.1038/s41431-017-0030-1.

    Article  PubMed  Google Scholar 

  55. Godino L, Turchetti D, Jackson L, Hennessy C, Skirton H. Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents. Eur J Hum Genet. 2019;27:291–9. https://doi.org/10.1038/s41431-018-0262-8.

    Article  PubMed  Google Scholar 

  56. Godino L, Varesco L, Bruno W, Bruzzone C, Battistuzzi L, Franiuk M, et al. Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing. J Genet Couns. 2021;30:665–75. https://doi.org/10.1002/jgc4.1350.

    Article  CAS  PubMed  Google Scholar 

  57. Burke, K, Dawson, L, Hodgkinson, K, Wilson, BJ, Etchegary, H (2024). Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey. J Community Genet 1-14. https://doi.org/10.1007/s12687-024-00720-z.

  58. Birkhäuer J, Gaab J, Kossowsky J, Hasler S, Krummenacher P, Werner C, et al. Trust in the health care professional and health outcome: a meta-analysis. PloS one. 2017;12:1–13. https://doi.org/10.1371/journal.pone.0170988.

    Article  CAS  Google Scholar 

  59. LePoire E, Basu B, Walker L, Bowen DJ. What do people think about genetics? A systematic review. J Community Genet. 2019;10:171–87. https://doi.org/10.1007/s12687-018-0394-0.

    Article  PubMed  Google Scholar 

Download references

Funding

Authors reported there is no funding associated with the work featured in this article.

Author information

Authors and Affiliations

  1. Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

    Lea Godino & Daniela Turchetti

  2. Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy

    Lea Godino & Vanessa Gentili

  3. Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy

    Daniela Turchetti & Paolo Chiari

  4. Department of Medical Sciences, University of Udine, Udine, Italy

    Alvisa Palese

Authors
  1. Lea Godino
    View author publications

    Search author on:PubMed Google Scholar

  2. Daniela Turchetti
    View author publications

    Search author on:PubMed Google Scholar

  3. Vanessa Gentili
    View author publications

    Search author on:PubMed Google Scholar

  4. Paolo Chiari
    View author publications

    Search author on:PubMed Google Scholar

  5. Alvisa Palese
    View author publications

    Search author on:PubMed Google Scholar

Contributions

All the authors conceived the study. LG and DT designed the literature search plan. VG and LG conducted the literature search and screening. LG and DT contributed to the analytical planned bias assessment approach. LG drafted the manuscript. All authors revised the manuscript and approved the final version. PC and AP will supervise the study.

Corresponding author

Correspondence to Lea Godino.

Ethics declarations

Competing interests

The authors declare no competing interests.

Ethical approval

Approval by an Ethical Board was not required as this is a systematic review of published literature. However, it was registered in the “International Prospective Register of Systematic Review” (PROSPERO) in 2024 (CRD42024532829; Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024532829).

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Godino, L., Turchetti, D., Gentili, V. et al. Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review. Eur J Hum Genet (2025). https://doi.org/10.1038/s41431-025-01790-4

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1038/s41431-025-01790-4

This article is cited by

Search

Advanced search

Quick links