12:00 PM - 1:00 PM
Seminar Series: Willem H. Ouwehand
The 100 000 Genomes Project: Relevance for the transfusion community
The main objectives of the 100,000 Genomes Project are: i) to identify the DNA variants and genes underlying unresolved Mendelian disorders, and ii) to develop an accredited framework for delivering whole genome sequencing (WGS) results across the NHS. For the pilot, 13,037 individuals were recruited at 83 hospitals using standardized eligibility criteria for 12 rare disease domains. The cohort includes cases with haematology (n=1021), immunology (n=1359) and haemostasis disorders (n=1169). With consent clinical and laboratory data were collected and across all domains 1,327 MDT reports assigning causal DNA variants have been returned, with 330 for the haematology, immunology and haemostasis domains. The project also showed the feasibility of extracting clinical-grade information on blood groups, HLA and HPA from the WGS data.
In conclusion, the 100,000 Genomes Project has shown the feasibility of using WGS across the NHS, to deliver a molecular diagnosis for patients with rare inherited diseases and this national genotype-phenotype resource has already led to the identification of 25 novel diagnostic-grade genes for rare diseases.