Rare eye diseases among conditions identified by 100,000 Genomes Project

A UK project aims to investigate the role of genome sequencing in patients with undiagnosed rare diseases

Pixabay/Arek Socha

Initial findings have been published from a UK project that investigates the role of genome sequencing in patients with undiagnosed rare diseases, including eye conditions.

The research, which was published in The Journal of New England Medicine, involved a pilot study of 4660 participants from 2183 families.

Within this group, 161 disorders covering a broad spectrum of rare diseases were present.

“Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases,” the authors concluded.

The study, which was led by Genomics England and Queen Mary University of London in partnership with the National Institute for Health Research BioResource, resulted in a new diagnosis in 25% of cases.

Of these new diagnoses, 14% were found in sections of the genome that would be missed by conventional methods.

Lead author, Professor Sir Mark Caulfield, from Queen Mary University of London, described the findings as a “major advance.” He expressed his hope that rare disease patients worldwide would start receiving diagnostic whole genome sequencing where appropriate.

“Our findings show that deployment of this comprehensive and efficient genomic test at the first signs of symptoms, can improve diagnostic rates,” Caulfield said.

Within the study group, new diagnoses were most common among those with ophthalmologic, metabolic and neurologic disorders.

The research is part of the 100,000 Genomes Project, which was established in 2013 to sequence 100,000 whole genomes from NHS patients and their families.