Ethical issues in presymptomatic genetic testing for minors: a dilemma in Li-Fraumeni syndrome
Brice Fresneau1, Laurence Brugières, Olivier Caron
1Laboratoire d'éthique médicale et de médecine légale, Université Paris Descartes, Paris, France. brice.fresneau@etu.upmc.fr
Insights
French oncogeneticists face dilemmas regarding Li-Fraumeni syndrome (LFS) testing in minors. While a 2001 recommendation advises against it, some doctors encounter parental requests and consider individual family needs.
Area of Science:
- Oncology
- Genetics
- Medical Ethics
Background:
- A 2001 French expert panel recommended against presymptomatic Li-Fraumeni syndrome (LFS) testing in minors.
- This recommendation conflicts with potential parental desires for early TP53 mutation detection in at-risk families.
- The ethical and clinical implications of this recommendation warrant further investigation.
Purpose of the Study:
- To assess the frequency of parental requests for TP53 testing in minors with a family history of LFS.
- To understand oncogeneticists' responses and reasoning when faced with such requests.
- To evaluate oncogeneticists' perspectives on the existing regulatory framework for testing minors.
Main Methods:
- A national multicenter survey was conducted.
- Self-administered questionnaires were mailed to French oncogeneticists across 33 regional centers.
- Data collected focused on experiences with LFS families and testing requests for minors.
Main Results:
- Twenty oncogeneticists reported managing LFS families; eleven had received parental requests for TP53 testing.
- Three oncogeneticists had prescribed presymptomatic TP53 tests for minors on at least one occasion.
- Oncogeneticists cited balanced medical, psychological, and ethical arguments, highlighting decision-making dilemmas.
Conclusions:
- The 2001 recommendation, while normative, presents clinical challenges due to the need to consider individual family circumstances.
- A lack of consensus complicates the decision-making process for oncogeneticists.
- The medical benefits of specialized follow-up for TP53 mutation carriers are under ongoing investigation.
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.
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