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Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)

European Journal of Human Genetics volume 33, pages 485–495 (2025)Cite this article

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Abstract

Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent. Despite international support, this is not standard practice in Australia. We aimed to gather perspectives of genetic testing patients about direct-contact methods. Using an online survey, we surveyed Australian adults with genetic results of relevance for relatives, including patients who (i) self-categorised as being directly contacted by a clinical service, (ii) self-categorised as being referred by a HP, and (iii) received genetic results through a research study. Overall, 442 patients responded (clinical n = 363; research n = 79). Clinical patients self-categorised as 49.0% directly-contacted and 51.0% referred. Overall, the majority of patients had no privacy concerns about direct-contact methods (direct-contact 97%; referred 77%; research 76%). Less than 5% of the combined cohort (n = 19/442) reported significant concerns. The most prevalent concerns were the need for consent to provide HPs with relatives’ contact details, and a patient preference to notify relatives before HP contact. Other key findings include preferences about contact methods, including that most patients who received a letter from a genetics service preferred a letter with specific information about the familial genetic condition (n = 141/149; 94.6%) than one with general information about genetic risk. Our findings indicate Australian patients support HPs using direct-contact methods to assist with risk communication to relatives. Findings also identify concerns to be addressed in the design of direct-contact programs.

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Fig. 1
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Fig. 3: Patient preferences regarding direct contact methods.

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Numerous data are made available via supplementary materials. Additional data can be made available on reasonable request.

References

  1. Courtney E, Chok AK-L, Ting Ang ZL, Shaw T, Li S-T, Yuen J, et al. Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. npj Genom Med. 2019;4:22.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG, et al. Delivery of cascade screening for hereditary conditions: a scoping review of the literature. Health Aff. 2018;37:801–8.

    Article  Google Scholar 

  3. George R, Kovak K, Cox SL. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J Genet Couns. 2015;24:388–99.

    Article  PubMed  Google Scholar 

  4. 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. 2022;40:4129–43.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Forrest LE, Delatycki MB, Curnow L, Skene L, Aitken M. Genetic health professionals and the communication of genetic information in families: practice during and after a genetic consultation. Am J Med Genet Part A. 2010;152A:1458–66.

    Article  PubMed  Google Scholar 

  6. Healey E, Taylor N, Greening S, Wakefield CE, Warwick L, Williams R, et al. Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families. Genet Med. 2017;19:1323–31.

    Article  PubMed  Google Scholar 

  7. 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. 2020;28:1631–44.

    Article  PubMed  PubMed Central  Google Scholar 

  8. 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.

    Article  PubMed  Google Scholar 

  9. Rosén A, Krajc M, Ehrencrona H, Bajalica-Lagercrantz S. Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives. Eur J Hum Genet. 2024;32:6–7.

    Article  PubMed  Google Scholar 

  10. Gaff C, Hodgson J. A genetic counseling intervention to facilitate family communication about inherited conditions. J Genet Couns. 2014;23:814–23.

    Article  PubMed  Google Scholar 

  11. Hodgson JM, Metcalfe SA, Aitken M, Donath SM, Gaff CL, Winship IM, et al. Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Med Genet. 2014;15:33.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Sermijn E, Delesie L, Deschepper E, Pauwels I, Bonduelle M, Teugels E, et al. The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam Cancer. 2016;15:155–62.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Evans DGR, Binchy A, Shenton A, Hopwood P, Craufurd D. Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin Genet. 2009;75:124–32.

    Article  CAS  PubMed  Google Scholar 

  14. van El CG, Baccolini V, Piko P, Cornel MC. Stakeholder views on active cascade screening for familial hypercholesterolemia. Healthcare. 2018;6:108.

  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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Megan CR, David Dotson W, Christopher SD, Erica MB, Deborah JB, Theodore GG, et al. Delivery of cascade screening for hereditary conditions: a scoping review of the literature. Health Aff. 2018;37:801–8.

    Article  Google Scholar 

  17. Marks D, Thorogood M, Neil SM. Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes. J Med Screen. 2006;13:156–9.

    Article  CAS  PubMed  Google Scholar 

  18. 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 Personal Med. 2021;11:538.

    Article  Google Scholar 

  19. 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 Counsel. 2018;27:689–701.

    Article  Google Scholar 

  20. Öfverholm A, Karlsson P, Rosén A. The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer. Eur J Hum Genet. 2024;32:539–44.

  21. 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. 2024;32:98–108.

    Article  PubMed  Google Scholar 

  22. Menko FH, van der Velden SL, Griffioen DN, Ait Moha D, Jeanson KN, Hogervorst FBL, et al. Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation. J Genet Couns. 2024;33:615–22.

    Article  CAS  PubMed  Google Scholar 

  23. van den Heuvel LM, Hoedemaekers YM, Baas AF, Baars MJH, van Tintelen JP, Smets EMA, et al. A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial. Eur J Hum Genet. 2022;30:203–10.

    Article  PubMed  Google Scholar 

  24. 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.

    Article  CAS  PubMed  Google Scholar 

  25. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JGA. metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inf. 2009;42:377–81.

    Article  Google Scholar 

  26. StataCorp. Stata Statistical Software: Release 17. College Station, TX: StataCorp LLC; 2021.

  27. Vears DF, Gillam L. Inductive content analysis: a guide for beginning qualitative researchers. Focus Health Profess Educ A Multi-Profess J. 2022;23:111–27.

    Article  Google Scholar 

  28. Stott A, Madelli EQ, Boughtwood T, Nowak KJ, Otlowski M, Tiller J. Health professionals contacting patients’ relatives directly about genetic risk (with patient consent): current clinical practice and perspectives. Eur J Hum Genet. 2024; https://doi.org/10.1038/s41431-024-01730-8.

  29. Nääs C, von Salomé J, Rosén A. Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure. Eur J Hum Genet. 2024;32:448–55.

    Article  PubMed  PubMed Central  Google Scholar 

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Funding

JT is funded by a National Health and Medical Research Council (NHMRC) Investigator Grant (ID 2025900). This work is supported by Australian Genomics, funded by the Australian Government through the NHMRC (GNT2000001 and GNT2035846).

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Authors and Affiliations

  1. Australian Genomics, Parkville, VIC, Australia

    Jane Tiller, Keri Finlay, Evanthia O. Madelli, Matilda R. Jackson & Tiffany Boughtwood

  2. Murdoch Children’s Research Institute, Parkville, VIC, Australia

    Jane Tiller, Keri Finlay, Evanthia O. Madelli & Tiffany Boughtwood

  3. School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia

    Jane Tiller

  4. Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia

    Melissa Monnik & Nicola Poplawski

  5. Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia

    Matilda R. Jackson

  6. Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia

    Nicola Poplawski

  7. Office of Population Health Genomics, WA Department of Health, East Perth, WA, Australia

    Kristen J. Nowak

  8. Centre for Law and Genetics, University of Tasmania, Hobart, TAS, Australia

    Margaret Otlowski

Authors
  1. Jane Tiller
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  3. Evanthia O. Madelli
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Contributions

JT conceived the project, designed the methodology and data collection instruments with EM, MM, NP, MJ, TB, KN and MO, supervised analysis of data and wrote the manuscript. MJ assisted with recruitment and data collection, and critically reviewed the manuscript. MM and NP assisted with recruitment and critically reviewed the manuscript. EM implemented the data collection forms, assisted with data collected and data analysis and contributed to the writing and review of the manuscript. KF assisted with data analysis and writing of portions of the manuscript. TB assisted with recruitment and data collection and critically reviewed the manuscript. KN and MO critically reviewed the manuscript. MO supervised the project.

Corresponding author

Correspondence to Jane Tiller.

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The authors declare no competing interests.

Ethics approval

This project was granted approval by the Royal Children’s Hospital Human Research Ethics Committee on 7 November 2022, HREC reference number 79691, and was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki.

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Tiller, J., Finlay, K., Madelli, E.O. et al. Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent). Eur J Hum Genet 33, 485–495 (2025). https://doi.org/10.1038/s41431-024-01764-y

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