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November 12, 2021

New study shows whole genome sequencing enhances rare disease diagnosis

The rate of new diagnoses was higher for certain conditions, including hearing, intellectual disability and vision disorder.

Findings from a pilot study have demonstrated that whole genome sequencing (WGS) can improve the diagnosis of rare diseases and deliver huge benefits across the National Health Service (NHS).

Led by Genomics England and the Queen Mary University of London, the new study of rare, undiagnosed diseases was supported by the National Institute for Health Research (NIHR) BioResource.

The genes of 4,660 people from 2,183 families, who had previously participated in the 100,000 Genomes Project, were analysed in the study.

It helped approximately a quarter of participants in the study to receive a new diagnosis and more personalised clinical care.

In the study, about 14% of these new diagnoses were found in areas of the genome that are not covered with other conventional techniques, including other non-whole genomic tests.

The rate of new diagnoses was higher, about 40% to 55%, for certain conditions, including hearing conditions, intellectual disability and vision disorder.

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The new diagnosis from WGS helped many participants who had spent years trying to discover the cause of their health issues.

WGS also helped many family members test for the same condition, to check if they had inherited the disease.

Genomics England former chief scientist and Queen Mary University of London professor Mark Caulfield said: “We hope this major advance will enable rare disease patients worldwide to 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.

“This study has paved the way for clinical implementation of whole genome sequencing as part of the NHS Genomic Medicine Service.”

The study was also performed in collaboration with Illumina, which was responsible for the sequencing.

The NIHR, the Wellcome Trust, Cancer Research UK, the Medical Research Council, and the Department of Health and Social Care provided funding for the study, along with NHS England.

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