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Journal of Genetic Counseling

, Volume 25, Issue 3, pp 483–494 | Cite as

Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals’ Perceptions of Ethical and Professional Issues in France

  • Diane d’ Audiffret Van Haecke
  • Sandrine de Montgolfier
Original Research

Abstract

The benefit of disclosing test results to next of kin is to improve prognosis and—in some cases—even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.

Keywords

Family communication Genetic results Genetic counseling At-risk relatives Genetic testing Ethical issues Responsibility 

Notes

Acknowledgments

The authors thank the Agence de la Biomédecine, the Cancéropole—Ile-de-France and the INCa for funding the research project “Implications and implementation of family disclosure in familial genetic disorders 2013–2015”.

Conflict of Interest

Diane d’Audiffret Van Haecke and Sandrine de Montgolfier declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Additional informed consent was obtained from all patients for which identifying information is included in this article.

Animal Studies

No animal studies were carried out by the authors for this article.

References

  1. Aktan-Collan, K. I., Kääriäinen, H. A., Kolttola, E. M., Pylvänäinen, K., Järvinen, H. J., Haukkala, A. H., & Mecklin, J.-P. (2011). Sharing genetic risk with next generation: mutation-positive parents’ communication with their offspring in Lynch Syndrome. Familial Cancer, 10(1), 43–50. doi: 10.1007/s10689-010-9386-x.CrossRefPubMedGoogle Scholar
  2. Alliman, S., Veach, P. M., Bartels, D. M., Lian, F., James, C., & LeRoy, B. S. (2009). A comparative analysis of ethical and professional challenges experienced by Australian and U.S. genetic counselors. Journal of Genetic Counseling, 18(4), 379–394. doi: 10.1007/s10897-009-9229-9.CrossRefPubMedGoogle Scholar
  3. Assemblée Nationale, & Parlementaire, D. (2003). Journaux officiels - 1st meeting of Wednesday, 10 December 2003 - discussion article 3. Retrieved Mai 5, 2015, from http://www.assemblee-nationale.fr/12/cri/2003-2004/20040095.asp.
  4. Bardin, L. (2001). [Content analysis], Paris. PUF.Google Scholar
  5. Binet, J.-R., & Leonetti, J. (2012). The reform of the law on bioethics comment and Analysis of Law No 2011-814 of 7 July 2011 on bioethics. Paris: LexisNexis.Google Scholar
  6. Blanchet, A. (2007). The survey and its methods: the interview. Paris: Armand Colin.Google Scholar
  7. Bower, M. A., Veach, P. M., Bartels, D. M., & LeRoy, B. S. (2002). A survey of genetic counselors’ strategies for addressing ethical and professional challenges in practice. Journal of Genetic Counseling, 11(3), 163–186.CrossRefPubMedGoogle Scholar
  8. Bradbury, A. R., Patrick-Miller, L., Egleston, B. L., Olopade, O. I., Daly, M. B., Moore, C. W., & Daugherty, C. K. (2012). When parents disclose BRCA1/2 test results: their communication and perceptions of offspring response. Cancer, 118(13), 3417–3425. doi: 10.1002/cncr.26471.CrossRefPubMedPubMedCentralGoogle Scholar
  9. CCNE. (2003). [Advice N° 76 : about the obligation to family genetic information in case of medical necessity]. Retrieved from http://www.ccne-ethique.fr/docs/fr/avis076.pdf.
  10. Chivers Seymour, K., Addington-Hall, J., Lucassen, A. M., & Foster, C. L. (2010). What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19(4), 330–342. doi: 10.1007/s10897-010-9296-y.CrossRefPubMedGoogle Scholar
  11. Cordier, C., Taris, N., De Pauw, A., Sobol, H., Philip, N., & Voelckel, M.-A. (2013). French professionals in genetic counselor careers. Journal of Genetic Counseling, 22(6), 844–848. doi: 10.1007/s10897-013-9599-x.CrossRefPubMedGoogle Scholar
  12. Delliaux, M., Delval, A., Krystkowiak, P., Destée, A., Defebvre, L., & Dujardin, K. (2008). About Huntington’s disease: role of families and health professionals in information transmission. Revue Neurologique, 164(2), 148–155. doi: 10.1016/j.neurol.2007.08.002.CrossRefPubMedGoogle Scholar
  13. Farnos, C., & Rial-Sebbag, E. (2013). [The genetic information to kin in 2012, to a patient empowerment for the benefit of his relatives]. Presented at the Séminaire d’actualité de droit médical, Bordeaux: Les études hospitalières.Google Scholar
  14. Giraud, F. (2003). [Bill on bioethics] (No. N°128). Sénat - rapport de commission. Retrieved from http://www.senat.fr/rap/l02-128/l02-128_mono.html#toc241.
  15. Gschmeidler, B., & Flatscher-Thoeni, M. (2013). Ethical and professional challenges of genetic counseling - the case of Austria. Journal of Genetic Counseling, 22(6), 741–752. doi: 10.1007/s10897-013-9610-6.CrossRefPubMedGoogle Scholar
  16. INSERM [French national institute of health and medical research]. (2008). Tests génétiques : questions scientifiques, médicales et sociétales (Vol. XXXV). Paris: Les éditions Inserm. Retrieved from http://hdl.handle.net/10608/107.
  17. Knoppers, B. M., & Chadwick, R. (1994). The Human Genome Project: under an international ethical microscope. Science (New York, N.Y.), 265(5181), 2035–2036.CrossRefGoogle Scholar
  18. Law No. 2004-800 dated 6 August 2004 - art. 4. (2004). Code de la santé publique. L1131-1.JORF.Google Scholar
  19. Law No. 2011-814 dated 7 July 2011 - art. 2. (2011). Code de la santé publique. L1131-1. JORF.Google Scholar
  20. Legislative Decree 2013-527 20th June 2013 concerning the implementation of conditions of kin information in the context of an examination of genetic characteristics for medical purposes. R. 1131-20-2 du code de la santé publique. NOR: AFSP1311381D. JORF n°0143, 22 June 2013, p10403.Google Scholar
  21. Legislative order (b) fixing the sample letter addressed by the physician to potentially affected members of the family pursuant to Article R. 1131-20-2 du code de la santé publique. NOR: AFSP1311382A. JORF n°0143, 22 June 2013, p10405.Google Scholar
  22. Legislative order defining the rules of good practice applicable to the examination of the genetic characteristics of a person for medical purposes. NOR: AFSP1313547A. JORF n°0130, 7 June 2013, p9469.Google Scholar
  23. Legislative order defining the rules of good practice relating to the implementation of the kinship of information in the context of an examination of genetic characteristics for medical purposes pursuant to Article R. 1131-20-2 du code de la santé publique. NOR: AFSP1429154A. JORF n°0293, 19 December 2014, p21495.Google Scholar
  24. Mendes, A., Paneque, M., Sousa, L., Clarke, A., & Sequeiros, J. (2015). How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics, 23(1), 354–355.Google Scholar
  25. Pujol, P., Lyonnet, D. S., Frebourg, T., Blin, J., Picot, M. C., Lasset, C., Dugast, C., Berthet, P., de Paillerets, B. B., Sobol, H., Grandjouan, S., Soubrier, F., Buecher, B., Guimbaud, R., Lidereau, R., Jonveaux, P., Houdayer, C., Giraud, S., Olschwang, S., Nogue, E., Galibert, V., Bara, C., Nowak, F., Khayat, D., & Nogues, C. (2013). Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests. Breast Cancer Research and Treatment, 141(1), 135–144.CrossRefPubMedGoogle Scholar
  26. Van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., & de Wert, G. M. (2013). Whole-genome sequencing in health care. European Journal of Human Genetics, 21(6), S1–S5. doi: 10.1038/ejhg.2013.46.PubMedPubMedCentralGoogle Scholar
  27. Vavolizza, R. D., Kalia, I., Aaron, K. E., Silverstein, L. B., Barlevy, D., Wasserman, D., & Dolan, S. M. (2014). Disclosing genetic information to family members about inherited cardiac arrhythmias: An Obligation or a Choice? Journal of Genetic Counseling. doi: 10.1007/s10897-014-9783-7.
  28. Veach, P. M., Bartels, D. M., & LeRoy, B. S. (2001). Ethical and professional challenges posed by patients with genetic concerns: a report of focus group discussions with genetic counselors, physicians, and nurses. Journal of Genetic Counseling, 10(2), 97–119.CrossRefPubMedGoogle Scholar
  29. Wiens, M. E., Wilson, B. J., Honeywell, C., & Etchegary, H. (2013). A family genetic risk communication framework: guiding tool development in genetics health services. Journal of Community Genetics, 4(2), 233–242. doi: 10.1007/s12687-012-0134-9.CrossRefPubMedPubMedCentralGoogle Scholar
  30. Wiseman, M., Dancyger, C., & Michie, S. (2010). Communicating genetic risk information within families: a review. Familial Cancer, 9(4), 691–703. doi: 10.1007/s10689-010-9380-3.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Diane d’ Audiffret Van Haecke
    • 1
  • Sandrine de Montgolfier
    • 2
    • 3
  1. 1.Laboratoire Interdisciplinaire d’étude du Politique Hannah Arendt - Paris-Est (LIPHA-PE)Université Paris Est Marne-la-Vallée (UPEM)Marne-La-Vallée CedexFrance
  2. 2.Institut de Recherche Interdisciplinaire sur les enjeux Sociaux (IRIS)UMR 8156 CNRS - 997 Inserm - EHESS - UP 13Paris Cedex 13France
  3. 3.Université Paris Est Créteil (UPEC)CréteilFrance

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