Molecular and genomic data are revolutionising disease registration. In the NDRS, we currently collect cytogenetic data on all congenital anomalies, somatic molecular data for tumour profiling and precision medicine, and germline molecular data for hereditary cancer predisposition syndromes (with NCRAS leading and coordinating the national contribution to the BRCA Challenge).
In January this year, we launched a new online system for genetic requests, a cancer family history confirmation service provided to Clinical Genetics professionals in the NHS. In the first 6 months we have processed over 12,000 individual requests all within our 10-day turnaround time target.
We are continuing to develop our molecular programme and have recently collected molecular data on rare disease patients for the first time. We are also improving cancer registrations to routinely record biomarker status from pathology feeds, including mismatch repair status (a recommended screening test for
For more information on the NDRS molecular programme, please contact
Head of Molecular and Diagnostics.