RT Journal Article
SR Electronic
T1 Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 741
OP 746
DO 10.1136/jmg.39.10.741
VO 39
IS 10
A1 P Charron
A1 D Héron
A1 M Gargiulo
A1 P Richard
A1 O Dubourg
A1 M Desnos
A1 J-B Bouhour
A1 J Feingold
A1 L Carrier
A1 B Hainque
A1 K Schwartz
A1 M Komajda
YR 2002
UL http://jmg.bmj.com/content/39/10/741.abstract
AB Aims: A major breakthrough in the molecular genetics of hypertrophic cardiomyopathy (HCM) has made genetic testing now available in clinical practice, raising new questions about its implications, potential benefits, and the organisation of the procedure. The aim of this work was (1) to discuss the different questions related to genetic testing in HCM, and propose guidelines for the different situations, (2) to report our preliminary experience with a specific procedure. Methods and results: The main questions asked by patients and relatives concern presymptomatic diagnosis and prenatal counselling/diagnosis, while clinicians sometimes discuss diagnostic and prognostic testing. To take into account the complex medical and psychological implications of this new approach, we developed a specific, multidisciplinary, and multiple step procedure, including a cardiologist, a geneticist, and a psychologist. Seventy subjects were examined, including (1) 29 adults for presymptomatic diagnosis (of whom 10 left the procedure after the first visit and 19 continued, among whom six had a mutation and two experienced negative psychological impact, observed during follow up), (2) nine couples of parents for presymptomatic diagnosis in their children (the procedure was stopped after the first visit in eight and continued in one), (3) 22 couples for prenatal counselling (no prenatal genetic testing was asked for after the first visit), and (4) 10 subjects for diagnostic testing. We decided to perform no prognostic testing. Conclusion: Our preliminary experience confirms the complexity of the situation and suggests the necessity for a specific procedure to ensure good practice in genetic testing of HCM.