England’s National Health Service (NHS) is launching a new program under which it will conduct a standard set of genomic tests for certain cancers and rare diseases. For patients who consent, the NHS will store the test data at a national research center along with the patients’ health records.

The NHS is establishing this new genomics data program because most rare diseases lack adequate treatment methods. Approximately 7% of people in Britain will, at some point in their lives, have a rare disease (a disease that affects less than 1 in 2,000 people). Generally occurring in childhood, these diseases are usually due to a single genetic mutation. Since the NHS covers 55 million people, the hope of the program is that researchers will be able to identify many patients with rare diseases within the stored datasets, compare the progress of the disease in the patients, and determine any lifestyle, diet or other factors that may contribute to forecasting the disease’s progress.

Cancer is also linked to genetic changes. The NHS’ new program is designed to enable researchers to use the national datasets to identify an important mutation and match the cancer to drugs that can treat it, as the data will be able to help indicate which treatment works best with which genetic profile.

The national data center in which all NHS records will be kept is already running, with patient files from another project run by Genomics England serving as the pilot project for the program. The data center already has a collection of 82,000 genomes of patients with rare diseases and cancers, which is being mined by approximately 3,000 researchers from over 20 countries.

A major priority for the program is testing for genetic variations that may cause unfavorable reactions to certain drugs. For some diagnoses that require the sequencing of the entire genome, the analyses will be accomplished using a single-gene test. Testing for combinations of gene variants is also important, in order to target prevention for chronic ailments—by some estimates, 40–70% of drug prescriptions may be of no use for these types of illnesses.

Source: The Economist