The Academy of Medicine recommends authorizing tests in the general population to detect the possible presence of certain genetic anomalies in couples with a parental plan, screening so far limited to cases with a family history, according to a report communicated Friday July 10.
In the past, this subject has fueled several opinions from the National Ethics Committee or debates in the National Assembly during revisions of bioethics laws, without leading to a change in legislation, but “the context has profoundly changed”, argues the Academy in a summary of its recommendations.
“Advances in high-throughput sequencing have made the test both more efficient and much less expensive”, and “many countries – United States, United Kingdom, Belgium, Spain, Israel, Australia in particular – have already authorized it, with significant results, for example on the virtual disappearance of the extremely serious Tay-Sachs disease in certain populations”, observes the institution. In France, this screening is prohibited in the general population, unless there is already identified family history.
More than a thousand genes responsible for serious and incurable recessive diseases (autosomal or linked to the X chromosome) in children, such as cystic fibrosis, spinal muscular atrophy or Duchenne muscular dystrophy, have been identified. Preconception genetic screening involves testing both members of a couple to see if they are at high risk of having a child with such a condition and, if so, informing them of possible choices.
“Progress in informing couples”
After examining the technical aspects and the scope of the genes to be tested, ethical and social questions as well as medico-economic ones, the Academy judged that this screening “constitutes progress in the information and freedom of choice of couples with a parental plan” and that there is “no justification” for depriving them of it in France.
As France authorizes prenatal diagnosis, medical termination of pregnancy and preimplantation diagnosis if a first child is affected or in the event of a family history of genetic disease, the authorization of this screening would allow couples at risk, according to members of the Academy of Medicine, to access the same procedures from the first child, or to prepare to welcome a first child affected by such a genetic disease.
The Academy of Medicine therefore recommends authorizing preconception genetic screening for the genes of serious and incurable recessive diseases. It recommends associated guarantees: prescription by trained health professionals, sufficient information for couples and support for those detected at risk.
The institution further suggests considering reimbursement by Health Insurance for preconception genetic tests on the most common genes, and raising awareness of genetic diseases and this screening from middle school onwards.
