Axis 2: Development of a more predictive integrated medicine
Objectives
The objectives of this axis are to explore the feasibility and the impact of using individual WGS data in the care of patients with cancer, malignant hemopathies or rare genetic diseases.
Methods
- WGS will be carried out for the primary diagnosis in patients with a severe chronic genetic disease, or with the aim to propose personalized therapy in patients with cancer or malignant hemopathy
- it will be proposed to patients to screen for clinically pertinent variations, which will be interpreted and classified in 3 categories: variations known to induce a genetic disease during a person’s lifetime; variations associated with a choice of medication; and heterozygous status for diseases with an autosomal recessive mode of inheritance
- all actionable variations will be confirmed and reported to the referring doctors and to patients who have expressed the wish to be informed,
- the impact of these results in psychological terms and with regard to modifications in management will be evaluated at the moment the results are given and during the follow-up.
This axis will allow the teams to think about the impact of HTS on care and will contribute to modifications in the organization of care. It will also be the first step towards future preventive genomic medicine.
