The list of pre-indications for which patients will be able to benefit from genomic sequencing during their care pathway will become broader over time.
The enlargement of the base of pre-indications enabling patients to access genomic sequencing during their care pathway, will progressively concern, as they are validated:
- Rare diseases
- Cancer
- Common diseases
It is based on a transfer of scientific advances from research towards care, after a validation phase by a working group led by the French National Authority for Health.
A working group chaired by the French National Health Authority (HAS) is responsible for prioritising the pre-indications for which patients may benefit from genomic sequencing during their care pathway. It concerns patients, or patient groups, for which the available data indicate that genome sequencing brings greater benefit to patients than the techniques routinely used in genetic laboratories. This working group also takes into account the technical constraints required to carry out sequencing and the bioinformatic analysis of results.
The first pre-indications prioritised in January 2019 concern patients suffering from rare diseases or cancer.
New pre-indications will be prioritised, as the sequencing capacities of the French Plan for Genomic Medicine 2025 gradually increase.
The new pre-indications selected are intended to be evaluated by the HAS to give an opinion concerning their reimbursement by the French national health insurance. The technique of genome sequencing is too recent to have sufficient data to carry out this evaluation today. Data that validate the clinical efficacy and clinical and medico-economic utility of these innovative acts must thus be collected for each pre-indication. The work carried out under the French Plan for Genomic Medicine 2025 thus aims to validate the process of obtaining reimbursement for the indication studied.
Pre-indications to access whole genome sequencing :
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The organisation of care is being put in place at the beginning of 2020.
The 13 first-line pre-indications validated by the Operating Committee correspond to clinical indications positively evaluated by the british National Health Service (NHS).
Dissemination of a questionnaire to the rare diseases and cancer care professionals for the submission of pre-indication projects. It explains: the interest of sequencing the complete genome in the patient care pathway, the technical constraints, the organisation to be set up and the expected volumes.
Dissemination of a questionnaire to the rare diseases and cancer care professionals for the submission of pre-indication projects. It explains: the interest of sequencing the complete genome in the patient care pathway, the technical constraints, the organisation to be set up and the expected volumes.
Validation of 12 pre-indications and identification of pre-indications to be examined by the French National Authority for Health (HAS), in connection with CRefIX reference centre and sequencing platforms.
Drafting and distribution of a questionnaire for the rare disease sectors and Inca laboratories on their pre-indication recommendations. The diagnostic interest, technical constraints, expected volumes and scientific literature are exposed.
Dissemination of a questionnaire to the rare disease and cancer care sectors for the submission of pre-indication projects. The interest of complete genome sequencing in the patient care pathway, the technical constraints, the organisation to be set up and the expected volumes are presented.