Les progres de la biologie moleculaire et les avancees des biotechnologies ont contribue a une augmentation rapide de l' offre de tests genetiques dans le domaine des maladies hereditaires. En France, pres de 1 000 mala-dies hereditaires peuvent desormais faire l' objet d'un test diagnostique effectue dans le cadre d'une consultation de conseil genetique. Un programme de depistage neonatal de cinq maladies genetiques existe depuis plu-sieurs annees. Tous ces tests dans le domaine medical sont des actes integres dans le systeme de sante. Les avancees scientifiques et techniques permettent egalement de mettre en evidence des susceptibilites genetiques a des maladies multifactorielles (hyperten-sion, diabete,…). La mise a disposition du public de tests genetiques pour ces maladies souleve de nom-breuses questions ethiques et societales. A la demande de la Cnamts, l'Inserm a realise une expertise collective qui analyse les donnees scienti-fiques, medicales, ethiques, economiques, juridiques associees aux tests genetiques. Une large place est faite aux sciences humaines et sociales en particulier aux representations collectives sur la sante et la maladie ainsi qu'a la relation medecin-patient. La question de la regulation de l'usage des tests genetiques est au coeur de cette expertise. Il s'agit d'un ouvrage qui sera utile aux decideurs poli-tiques et de sante publique ainsi qu'aux etudiants en genetique medicale, epidemiologie genetique, bio-ethique et aux professionnels en formation continue.

https://hal-lara.archives-ouvertes.fr/hal-01572050/document

Tests génétiques. Questions scientifiques, médicales et sociétales

Her past medical history was significant for smoking from a young age, arterial hypertension, dyslipidaemia and hypothyroidism. Her habitual medication was 8 mg perindopril, 5 mg atorvastatin and 0.05 mg levothyroxine sodium. There was no family history of renal disease. Serum complement levels (C3 and C4) were within the normal range; antinuclear antibodies (ANA), anti -neutrophil cytoplasmic antibody (C -ANCA), proteinase 3 anti -neutrophil cytoplasmic antibody (PR3 -ANCA) and anti -glomerular basement membrane (GBM) antibodies were negative. Serology for hepatitis B, hepatitis C and HIV was negative.

https://repositorio.chlc.min-saude.pt/bitstream/10400.17/3124/1/Port%20J%20Nephrol%20Hypert%202016_30_153.pdf

An Unexpected Cause of Chronic Renal Dysfunction and Haemato-Proteinuria

Fabry disease in genetic counselling practice: recommendations of the National Society of Genetic Counsellors

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Fabry disease in genetic counselling practice: recommendations of the National Society of Genetic Counsellors