Medical Genomics

Goal of GenMed was to test strategies (GWAS, WES, WGS, RNAseq) in emblematic rare and common human diseases to guide the deployment of genomics into healthcare. 82 papers were published, (another 100 using GenMed data), some, opening avenues for new therapies. 3 patents are ongoing in the field of risk of venous thrombosis and spondyloarthritis. Molecular diagnosis was achieved in some patients, ending their diagnostic odyssey. In most programs, novel genes have been incriminated and replication/functional validation is ongoing by joining forces with EU or international initiatives increasing GenMed’s worldwide visibility. The sequencing of 900 French control individuals has triggered the POPGEN project of the French Genomic Medicine plan with 10 000 individuals genotyped from whom 2000/4000 have been sequenced. All GenMed results reinforce the direction to move genomics into medical practice. A few additional projects using long fragment sequencing, transcriptomics and epigenetics have shown the value of multi-omics approaches to significantly increase the diagnostic rate. The emerging technology, low pass WGS is being evaluated to reduce access cost and data storage, several projects are ongoing. On Covid-19, 2 GWAS (disease severity and thrombotic comorbidity) and virus sequencing projects are being analyzed. On education, 4 international workshops and yearly dedicated GenMed days (for students, researchers and clinicians) were organized gathering hundreds of individuals to federate the community and tackle together strategic issues. A MOOC (bioinformatics for medical genetics) has been produced and followed by more than 12 000 participants. A total of 50 students (masters, PhD, Post docs) have been trained in GenMed labs. GenMed was strangely not refinanced in 2019, breaking its momentum, and is thus ending in March 2023. Yet its founders plan to continue the workshop and the training activities with external funding, so important to keep the community alive.