The FHU clinical team has set out an official genomic consultation document for undiagnosed patients. More information
For whom ?
The genomic consultation is for Bourgogne patients presenting with suspected monogenic disease.
How ?
- The genomic consultation pre-test :
The genomic consultation takes place in two stages. At the initial interview, the geneticist evaluates the symptoms and gives the patient a detailed explanation of what the High-Throughput Sequencing analysis involves and how the results are interpreted. The patient is invited to ask any questions he may have before giving his consent. The informed consent form must be filled in by the patient.
- This is used to extract DNA for HTS analysis.
- The results :
Three types of results may be obtained :
- positive (the cause of the disease is identified),
- uncertain (a highly probable candidate gene is identified but the consequences cannot be clearly determined based on current scientific knowledge),
- negative (the cause has not been identified but an annual repeat of the analysis can be requested).
The results will be discussed in a consultation about 6 months after the first blood test.
If the results are positive, the ramifications in terms of individualised multidisciplinary treatment, and genetic counselling, will be explained to the patient.
If secondary results are obtained, the patient will be referred to the appropriate healthcare network.
- A post-rendering day clinic is proposed for a later date to have a meeting with the reference centre's multidisciplinary team and have any additional questions answered
