Abstract
Health professionals have a role to play in assisting patients to communicate genetic information to their relatives. In France, a specific unique legal framework has been implemented concerning this issue. We questioned professionals about their practice and how it has evolved in this new frame. The French law has opted to lay responsibility for disclosure on the person concerned by a positive test result, without totally excluding some responsibility on the part of the professionals involved, in the information to be disclosed and in the transmission of the information if a patient refuses to do it themselves (indirect disclosure). We designed and validated an online survey to be sent out to healthcare professionals to explore their practice and how they went about implementing the legal provisions. We also sought to determine how healthcare professionals dealt with a patient’s refusal to disclose information to their relatives, and whether the legal framework was helpful. We carried out a statistical analysis of the responses to questionnaires to interpret the results by professional category, field of medicine and genetic disorder. The results show that professionals agreed on the relevance of disclosure to relatives. However, they show a range of practices and varying representations of the genetic issue in the framework of disclosure to relatives according to their medical field, their role in the health system and their own interpretations. They indicated a lack of resources, raised some ethical issues and put forward some arguments against contacting relatives themselves.
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References
D’Audiffret Van Haecke D, de Montgolfier S. Genetic test results and disclosure to family members: qualitative interviews of healthcare professionals’ perceptions of ethical and professional issues in France. J Genet Couns. 2016;25:483–94. https://doi.org/10.1007/s10897-015-9896-7.
Weil-Dubuc P-L, Les servitudes du droit de savoir, La Vie Des Idées, 2013. Retrieved from http://www.laviedesidees.fr/Les-servitudes-du-droit-de-savoir.html.
Gaff CL, Clarke AJ, Atkinson P, et al. Process and outcome in communication of genetic information within families: a systematic review. Eur J Human Genet. 2007;15:999–1011. https://doi.org/10.1038/sj.ejhg.5201883.
Resta RG. Defining and redefining the scope and goals of genetic counseling. Am J Med Genet Part C, Semin Med Genet. 2006;142C:269–75. https://doi.org/10.1002/ajmg.c.30093.
Forrest LE, Delatycki MB, Skene L, Aitken M. Communicating genetic information in families—a review of guidelines and position papers. Eur J Human Genet. 2007;15:612–8. https://doi.org/10.1038/sj.ejhg.5201822.
Barnoy S, Tabak N. Israeli nurses and genetic information disclosure. Nurs Ethics. 2007;14:280–94. https://doi.org/10.1177/0969733007075862.
Godard B, Hurlimann T, Letendre M, Egalité N. Guidelines for disclosing genetic information to family members: from development to use. Fam Cancer. 2006;5:103–16. https://doi.org/10.1007/s10689-005-2581-5.
Stol YH, Menko FH, Westerman MJ, Janssens RMJPA. Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists. J Med Ethics. 2010;36:391–5. https://doi.org/10.1136/jme.2009.033324.
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.
Mendes Á, Paneque M, Sousa L, Clarke A, Sequeiros J. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. Eur J Human Genet. 2016;24:315–25. https://doi.org/10.1038/ejhg.2015.174.
Derbez B, Pauw A, de, Stoppa-Lyonnet D, Montgolfier Sde. Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics. Fam Cancer. 2017;16:447–57. https://doi.org/10.1007/s10689-017-9970-4.
Law No. 2011–814 dated 7 July 2011 (art. 2) Code de la santé publique. L1131-1, JORF, 2011.
Farnos C, Battistuzzi L, Mendes Á, et al. Disclosing genetic information to family members: a comparativelaw study of the legal regimes applicable to patients’ and health professionals’ liability. Poster at the ESHG meeting at Barcelone 2016, SPAIN. Retrieved from https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf.
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. 2010;152A:1458–66. https://doi.org/10.1002/ajmg.a.33385.
Cordier C, Taris N, De Pauw A, Sobol H, Philip N, Voelckel M-A. French professionals in genetic counselor careers. J Genet Couns. 2013;22:844–8. https://doi.org/10.1007/s10897-013-9599-x.
Lenk C, Frommeld D. Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis. Med Health Care Philos. 2015;18:393–408. https://doi.org/10.1007/s11019-015-9638-5.
Binet J-R, Leonetti J. La réforme de la loi bioéthique commentaire et analyse de la loi no. 2011-814 du 7 juillet 2011 relative à la bioéthique. Paris: LexisNexis; 2012.
ABC v St George’s Healthcare NHS Trust. EWHC 1394 (QB), MHLO 39. 2015. http://www.bailii.org/ew/cases/EWHC/QB/2015/1394.html.
Dheensa S, Fenwick A, Lucassen A. Approaching confidentiality at a familial level in genomic medicine: a focus group study with healthcare professionals. BMJ Open. 2017;7:e012443 https://doi.org/10.1136/bmjopen-2016-012443.
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.
Kerzin-Storrar L, Wright C, Williamson PR, et al. Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients. J Med Genet. 2002;39:e85.
Wouters RHP, Bijlsma RM, Ausems MGEM, van Delden JJM, Voest EE, Bredenoord AL. Am I my family’s keeper? disclosure dilemmas in next generation sequencing. Human Mutat. 2016;37:1257–62. https://doi.org/10.1002/humu.23118.
Ani Kardashian, Julia Fehniger, Jennifer Creasman, Eleanor Cheung, Mary Stanley Beattie, (2012) A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome. Hereditary Cancer in Clinical Practice 10 (1)
Acknowledgements
This project was supported by ABM (AAP-2013), INCa for the project 'Familial disclosure in human genetics: implications and implementation in case of familial genetic disorders' (Grant no. 2013-130) and Canceropole–Ile-de-France. We thank all the healthcare professionals who took part in this study.
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d’Audiffret Van Haecke, D., de Montgolfier, S. Genetic diseases and information to relatives: practical and ethical issues for professionals after introduction of a legal framework in France. Eur J Hum Genet 26, 786–795 (2018). https://doi.org/10.1038/s41431-018-0103-9
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DOI: https://doi.org/10.1038/s41431-018-0103-9
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