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


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.


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



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.


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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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