Whole Genome Sequencing Speeds Up Detection Of Rare Diseases

A world-first scientific study published in the New England Journal of Medicine (NEJM) has shown that whole genome sequencing (WGS) can diagnose a broad range of rare diseases and could deliver benefits to National Health Service (NHS) in the United Kingdom, Deutsche Presse-Agentur (dpa) reported.

Photo Insert: Genomics research

The pilot study of rare undiagnosed diseases involved analyzing the genes of 4,660 people from 2,183 families - all of whom were early participants in the 100,000 Genomes Project.

The pioneering project, led by Genomics England and NHS England, was established in 2013 to sequence 100,000 whole genomes from NHS patients and their families.

The pilot study by Genomics England and Queen Mary University of London undertaken with National Institute for Health Research (NIHR) BioResource found that using WGS led to new diagnoses 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.

Many of the participants had gone through years of appointments, without getting any answers. By having their whole genome sequenced diagnoses were uncovered that would not have previously been detectable. The pilot study shows that WGS can effectively secure a diagnosis for patients, save the NHS vital resources and pave the way for other interventions.

Participants who received a diagnosis through the pilot include: A 10-year-old girl whose seven-year search for a diagnosis had multiple intensive care admissions over 307 hospital visits at a cost of 356,571 pounds.

Genomic diagnosis enabled her to receive a curative bone marrow transplant (at a cost of 70,000 pounds); a man in his 60s who had endured years of treatment for serious kidney disease, including two kidney transplants.

Already knowing his daughter had inherited the same condition, a genomic diagnosis made by looking at the whole genome for him and his daughter enabled his 15-year-old granddaughter to be tested.

This revealed she had not inherited the disease and could cease regular costly check-ups, and; a baby who became severely ill immediately after birth and sadly died at four months but with no diagnosis and healthcare costs of 80,000 pounds. Analysis of his whole genome uncovered a severe metabolic disorder due to the inability to take vitamin B12 inside cells explaining his illness.

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