Preimplantation genetic diagnosis and prenatal diagnosis for inherited predisposition to cancer: acceptability from the physicians’ point of view

September 01 2009

The practices and access to Preimplantation Genetic Diagnosis (PGD) and Prenatal Diagnosis (PD) for inherited predisposition to cancer are heterogeneous in industrialised countries. In France their authorisation depends on the Multidisciplinary Prenatal Diagnosis Centres (Centres pluridisciplinaires de diagnostic prénatal -CPDPN). The results published this month in The Journal of Clinical Oncology reveal the state of these practices and the position of the French health professionals most closely involved in the potential access of the persons at genetic risk of cancer to medically assisted procreation.

The work was carried out by the team led by Claire Julian-Reynier, Inserm Research Director within Inserm Unit 912 (“Sciences économiques et sociales, systèmes de santé, sociétés” Economic and Social Sciences, Health Systems, Societies) (Unité mixte de recherche: Inserm-IRD-Université Aix-Marseille II), located at the Institut Paoli-Calmettes.

Human embryo

Human embryo

The study sought to describe the acceptability of PGD and PD for all genetic predispositions to cancer from the point of view of the health professionals most closely involved (cancer-geneticists and physicians from the CPDPN) with a view to documenting national and international attitudes concerning the organisation of these practices.

This study was conducted by means of a self-administered questionnaire which was either filled in individually by registered cancer-geneticists then mailed to the Agence de Biomédecine (123 questionnaires) or collectively by coordinators from the CPDPN (47 physicians). It was carried out in conjunction with several experts taking part in the work group on “Prenatal diagnosis and preimplantation genetic diagnosis in the hereditary forms of cancer” initiated by the Agence de Biomédecine and the Institut National de Cancer, and coordinated by Prof. Dominique Stoppa-Lyonnet, Head of the Cancer Genetics Department of the Institut Curie and professor at Université Paris Descartes.

The response rate of both groups was in excess of 60%. Half of the cancer geneticists reported that they had discussed questions of PGD and PD with their patients in the course of the previous year. A very high theoretical acceptability for PGD and/or PD (over 80%) was observed for mutations predisposing to multiple cancers occurring in childhood with a very high penetrance (1), and for which no effective treatment or prevention was available. On the other hand, when the cancers are liable to occur only in adulthood (before 50 years) but never in childhood, and when a prevention or treatment preserving the quality of life was available, a minority of professionals (less than 15%) found these practices acceptable. Most of the respondents feel that the acceptability of these practices depends on the life experience of the consultees, in particular their personal history of cancer and their reproductive history.

In this study, researchers did not detect acceptability differences for PGD or PD in the most serious forms of cancer; for cancers occurring in adulthood, the results are more heterogeneous depending on the speciality of the doctors concerned - although these are no more than trends meriting further discussion in view of the small number of doctors observed. “Clinical recommendations of good practice could help in the organisation and standardisation of medically assisted procreation as part of genetic consultations”, conclude the authors.

(1) Probability of declaring the disease when an individual carries the mutation

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Know more

“Professionals Assess the Acceptability of Preimplantation Genetic Diagnosis and Prenatal Diagnosis for Managing Inherited Predisposition to Cancer”
Journal of Clinical Oncology published online ahead of print Aug 24 2009

Research Contact
Claire Julian-Reynier
Unité Inserm 912 "Sciences économiques et sociales, systèmes de santé, société"
Tel: 04 91 22 35 02

Press Contact
Séverine Ciancia
Tel: 01 44 23 60 98

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