A precise diagnostic, but why ?

Genomic medicine uses the information of individual genetic variations for diagnostic, follow-up, prevention and care.

An accurate and personalized diagnostic brings useful answers: it allows identifying a hereditary trait, unraveling unexplained symptoms, providing prognostic details, personalizing future therapeutic care and providing risk estimations for relatives or a future pregnancy.

When a genetic condition is diagnosed, the follow-up is specifically tailored: for instance, a medical follow-up (ophthalmologic, cardiologic, endocrinologic, oncologic…) can be advised, or the use of medicines can be adjusted. Furthermore, getting a clear diagnostic prevents the repetition of fruitless complementary tests; it puts an end to the diagnostic wavering rare disease patients often suffer from.

When a genetic cause is identified, genetic counselling can be provided to the patient himself as well as his relatives (for instance parents or children of an affected individual). In the case of a first child suffering from a genetic disease, only a precise diagnostic can reveal the risk for a couple to have another affected child. Additionally, in some situations it may lead to screenings of extra family members.