Whole genome sequencing improves diagnosis of rare diseases

A world-first scientific study has shown that whole genome sequencing can uncover new diagnoses for people across a variety of rare diseases and may deliver enormous benefits to the NHS.

The pilot study, published in New England Journal of Medicine, of rare undiagnosed diseases involved analysing the genes of 4,660 people from 2,183 families – all of whom were early participants in the 100,000 Genomes Project.

Experts at Newcastle University, supported by the NIHR Newcastle Biomedical Research Centre (BRC)’s Neuromuscular Disease theme were involved in the ground-breaking project, and the study identified that using whole genome sequencing led to a new diagnosis for 25% of the participants.

Of these new diagnoses, 14% were found in regions of the genome that would be missed by other conventional methods, including other types of non-whole genomic tests.

Information above courtesy of Newcastle University Press Office, read the full article here

Reference: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care – Preliminary Report. Damian Smedley et al. New England Journal of Medicine. DOI: 10.1056/NEJMoa2035790