Genomic Rare Disease Advisory Boards (GRDABs) have been established to support the return of results for patients with a rare condition and their families, who have taken part in the 100,000 Genomes Project.
The five boards, comprised of clinicians across several NHS Trusts in the West Midlands, meet at the Institute of Translational Medicine on a fortnightly basis to discuss and validate preliminary findings for participants in the Project. Results discussed at the GRDABs are then given to patient’s clinicians who will arrange appointments to discuss the results with participants and their families.
The five groups, whose members include clinical scientists, geneticists and specialist clinicians, are structured around particular areas such as cardiology or dermatology.
Trevor Cole, Rare Disease Lead for the West Midlands Genomic Medicine Centre (WMGMC), said: “The GRDABs are really helping to streamline the results process for 100k participants in the West Midlands, creating and developing end to end pathways.
“Already, the sequencing of individual genomes has resulted in some of our participants and their families receiving a genetic diagnosis for their rare disease.
“The infrastructure created through the GRDABs will also be vital as genomics moves forward into routine NHS care, through the national Genomic Medicine Service.”
Across 16 NHS Trusts in the West Midlands, the WMGMC recruited 9,615 rare disease participants, covering 197 conditions. Many participants have received their results, with all results expected to be returned by April 2020.
Rare disease participants saw their complete genetic code, also known as a genome, sequenced and analysed.
These genomes were compared with family members and other people with similar symptoms, leading to genetic diagnoses for some and personalised treatments for others.
The NHS Genomic Medicine Service will run across England from April 2020.
As part of the Service, clinicians will be able to use a Test Directory which specifies which kinds of genomic test can be ordered.