Integrating Germline and Somatic Genetic Test Result Data into the English National Cancer Registration and Analysis Service
Session type: Poster / e-Poster / Silent Theatre session
The National Cancer Registration and Analysis Service, run by Public Health England, collects, collates and quality assures data on every cancer diagnosed or treated within English NHS hospitals. We are now linking this population-level clinical data to germline and somatic genetic test results collected from NHS laboratories.
We have established regular, high quality, somatic test result feeds from eleven NHS genetics and pathology laboratories, covering approximately 80% of solid tumour molecular diagnostic testing within England. We also have germline data submissions from ten genetics laboratories; we have developed a novel method to pseudonymise germline demographics upon upload, thus protecting the identity of healthy people undergoing predictive genetic testing.
We have developed the NCRAS registration system to capture source laboratory data in diverse formats; records are standardised by a combination of computational methods and manual registration by a core group of staff specially trained in interpreting molecular test results.
Our pilot work covering 12 months’ worth of somatic testing data has recorded and linked >60,000 genetic test results on >26,000 tumours, covering >1,100 distinct combinations of gene and tumour site. In addition, we have collated data on germline tests on the BRCA1 and BRCA2 genes and released summary variant counts on >22,000 individuals back to the NHS clinical genetics community. The released aggregate data are used to calculate variant frequencies and assist in national consensus reclassification of BRCA1/2 variants of uncertain clinical significance.
This work will enable audit of the scope, availability and usage of molecular diagnostics within NHS cancer pathways and services, and will support epidemiological research and clinical trials. Patient-level and tumour-level linkage of molecular result data embedded within NCRAS is already changing clinical management for high risk BRCA1/2 families, and future work will allow new discoveries about associations between individual DNA aberrations, treatments, and overall outcomes and survival.