These tests are used if you present with symptoms of an illness that could be caused by genetic modifications (gene mutation) or by a combination of multiple markers that create a similar risk to that associated with a mutation (genetic predisposition). The results of this kind of test can reveal whether you are suffering from the suspected disease or to what extent you are at risk of developing it.

In general, these are diseases that only manifest during adulthood. For example:

the heart muscle or its electrical conduction system may be affected (cardiomyopathies and hereditary conduction abnormalities).
Another typical illness is associated with very high levels of fat in the blood, occurring in the context of an orphan disease and responsible for cardiovascular complications such as arteriosclerosis and infarction (familial hypercholesterolaemia). These suspected conditions are generally investigated by means of a test to study a sequence of genes known to be specifically involved (gene panel sequencing).

While only a very small part of the population will be affected by diseases of this kind, their diagnosis is essential to the management and treatment of patients and family screening.

A new generation of tests is moving towards clinical use in the diagnosis of common diseases in the adult population, namely the “polygenic risk score” (PRS). This tool calculates risk using hundreds or even thousands of genetic markers (not mutations ) which only have very little effect on the disease individually. Using a mathematical formula, it becomes possible to estimate the effect that these variants have when acting together. Indeed, together, these variants have a weight entirely comparable to a gene mutation, but while mutation is rare, these markers are present in everyone, and can therefore be used to diagnose the risk of disease. and especially to implement risk reduction measures that are effective in these situations.

For adult patient