Original Research

Journal of Genetic Counseling

, Volume 22, Issue 3, pp 315-322

First online:

Ethical Issues in Presymptomatic Genetic Testing for Minors: A dilemma in Li-Fraumeni Syndrome

  • Brice FresneauAffiliated withLaboratoire d’éthique médicale et de médecine légale, Université Paris DescartesDépartement d’Oncologie de l’enfant et de l’adolescent, Institut Gustave RoussyLaboratoire d’éthique médicale, Faculté de médecine—Centre Universitaire des Saints-Pères, Université Paris Descartes Email author 
  • , Laurence BrugièresAffiliated withDépartement d’Oncologie de l’enfant et de l’adolescent, Institut Gustave RoussyConsultation d’Oncogénétique, Institut Gustave Roussy
  • , Olivier CaronAffiliated withConsultation d’Oncogénétique, Institut Gustave Roussy
  • , Grégoire MoutelAffiliated withLaboratoire d’éthique médicale et de médecine légale, Université Paris Descartes

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Abstract

In 2001, a French expert panel recommended that presymptomatic tests should not be carried out on minors in families affected by Li-Fraumeni syndrome (LFS), flying in the face of possible parental demands for such testing. We decided to investigate the legitimacy of such a recommendation. We conducted a national multicenter survey using self-administered questionnaires mailed to French oncogeneticists in 33 regional centers in France. We aimed to (1) determine the extent to which these doctors were confronted with parental requests for TP53 testing, (2) study how they responded to these requests and the arguments used and (3) assess the attitude of oncogeneticists concerning the normative framework regulating the prescription of tests for minors. Twenty oncogeneticists stated that they had managed at least one LFS family. Eleven of these doctors had been confronted with parental requests for testing and three had prescribed such tests on at least one occasion. The oncogeneticists gave balanced medical, psychological and ethical arguments, highlighting the dilemma they face in the decision-making process. This dilemma is due to the lack of a consensus concerning this recommendation, which aims to protect the minor by limiting presymptomatic tests to cases in which a clear medical benefit can be demonstrated but which prevents the unique situation of particular families from being taken into account. In conclusion, the recommendation has a normative status but first, from a clinical stance, it is difficult to dissociate it from the evaluation of individual family situations, and second, the benefit of a specific medical follow-up for TP53 mutation carriers is currently being investigated.

Keywords

Li-Fraumeni Syndrome Predictive genetic testing Medical ethics Minors