A rare glimpse: French biomedicine agency report offers a view of the genetic testing activity in the country
The 2009 annual report of the French Agence de Biomédecine features for the first time data on the post-natal genetic testing activity performed in the country. Under French law, laboratories are obliged to report their activities to the watchdog agency. The data, collected via a partnership with rare disease information portal Orphanet, were for the first time subject to an electronic analysis. Data were culled from 239 laboratories, of which 75 perform cytogenetic testing, and 182 offer molecular genetic testing. Of this latter group, laboratories offer a range of between one and 78 tests, although over 30% limit their scope to just one or two tests.
The 2009 report shows that genetic testing activity is robust in the Hexagon (the epithet mainland France is frequently referred to due to its geographical shape), with over 270,000 molecular genetic analyses performed on 1042 of the 1143 genetic tests available in the country. These diagnostics concerned 951 different disorders – many of which are rare. These figures demonstrate that the molecular genetic test offer available in France must be maintained. Although just two indications – hemochromatosis and non-rare thrombophilia – represented more than 41% of analyses performed in 2009, the results illustrate that there was at least one demand for over 90% of the available tests. Other genetic tests performed in 2009 included over 6,400 pharmacogenetic analyses – a growing field of demand for genetic testing.
For cytogenetic testing, some 80,000 analyses were performed using caryotype (over 68,200) or FISH (12,000) techniques. Intellectual deficit, malformations, and developmental anomalies were amongst the indications. The new CGH array technology was used by both cytogenetic and molecular laboratories. Some 6,600 such tests were performed, most often (91% of cases) for intellectual deficit/malformations. A high level of unbalanced rearrangements was detected via this technique, probably a reflection of the fact that CGH arrays were performed in complement to a caryotype analysis.
Pre-natal testing activity in France
Besides post-natal testing activity, the annual report contains the data from prenatal diagnostics undertaken in 2008, with a comparison between the years 2006, 2007, and 2008. Over 80,000 foetus were subject to cytogenetic analysis in over 70 laboratories in 2008. Of these, almost 4,000 had a positive diagnosis. Maternal age, parental chromosomal anomalies, prior pregnancies with a chromosomal anomaly, and ultrasound-detected anomalies were amongst the most frequent indication for cytogenetic testing.
Of 3,147 foetus subject to molecular genetic testing in 2008, some 500 had positive diagnoses rendered. Cystic fibrosis, SMA, sickle cell anaemia, beta-thalassemia, X-linked disorders, and Rett syndrome were amongst the most frequent autosomal recessive conditions tested, while Steinert myotonic dystrophy, Charcot-Marie-Tooth disease, neurofibromatosis type 1 and Huntington disease were amongst the autosomal dominant conditions most frequently tested. Uniparental disomies (Prader-Willi/Angelman syndrome) were also tested in over 300 foetus. Overall, for the molecular genetic tests, 17% of foetus tested were affected. Between 50% and 90% of affected pregnancies were terminated, depending on the condition. Testing for these conditions was typically initiated due to an existing condition in the family or following an anomaly detected by ultrasound examination. 2009 saw the technology for pre-natal diagnostics advance, with the possibility to obtain an analysis combining nuchal translucency and a blood screen test before 12 weeks of pregnancy. For molecular genetic testing, technology now allows genotyping using the foetal DNA circulating in the maternal blood.
The annual report also includes data on cell, tissue and organ donations and transplantations, embryonic and stem cell research, and assisted reproductive activities.
The French Biomedicine Agency, a public organisation operating under the supervision of the Minister of Health, was created under the Bioethic Law of 2004. Its overriding function is to “guarantee equity, ethics, and transparency for the activities under its responsibility and for anticipated developments”.
Consult the 2009 annual report of the French Biomedicine Agency (in French language)