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The examination of the genetic characteristics of a person may only be undertaken for medical or scientific research objectives (article 16-10 Civil Code). At European level, article 12 of the Convention on Human Rights and Biomedicine also stipulates that tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease, may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counseling.
Although an examination of the genetic characteristics of a person may be undertaken for medical as well as scientific purposes, the French Civil Code does not contain a definition of a genetic test performed for scientific research objectives. A legal definition of what contains an examination of the genetic characteristics of a person performed for medical purposes on the other hand was included in the regulatory part of the Public Health Code. To define what one might understand by genetic testing is more delicate than it would appear. An examination of the genetic characteristics of a person performed for medical purposes was defined in 2000 as an examination that aimed at confirming or excluding the diagnosis of a genetic disease in a person who presented symptoms or seeking in an asymptomatic person the characteristics of one or more genes likely to cause the development of a disease in the person himself or herself or one of his relatives. The decree No. 2008-321 of 4 April 2008 nuances this existing definition of an examination of the genetic characteristics of a person for medical purposes. According to the new article R 1131-1 of the Public Health Code such an examination consists in analyzing the genetic characteristics of a person, inherited or acquired at an early stage of the prenatal development.
This analysis may have three objectives.
- The genetic characteristics of a person may be analyzed to pose, confirm or exclude the diagnosis of a genetic disease in a person.
- The analysis may also be performed with the intention of seeking the characteristics of one or more genes likely to be at the origin of the development of a disease in a person or the potentially concerned members of his family.
- The analysis of the genetic characteristics may have as an aim to adapt the medical care offered to a person according to his genetic characteristics. When the person concerned is a minor or a major under tutelage, article R 1131-5 contains a more stringent provision as it ads a condition to the prescription of an examination of the genetic characteristics. Such an examination may only be prescribed when the minor or the major under tutelage or his or her family can personally benefit from preventive measures or immediate treatment.
The analyses of the genetic characteristics of a person constitute of analyses of cytogenetics (including the analyses of molecular cytogenetics), analyses of molecular genetics and every other analysis of medical biology prescribed with the intention to obtain information for the determination of the genetic characteristics of a person, equivalent to the information obtained by the analyses of cytogenetics or molecular genetics (article R 1131-2 of the Public Health Code).
The comprehensive French regulation regarding the human genome specifies the conditions for prescribing an examination of the genetic characteristics of a person.

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