Shortening the “diagnostic odyssey”

Whole genome sequencing the key

The National Health Service (NHS) in the UK started the 100,000 Genomes Project 2013 to determine more diagnoses for more people faster, including those with rare diseases.

Results now show that whole genome sequencing (WGS) allowed a positive diagnosis for 14% of those with a rare genetic condition that would not have been found by other testing methods currently in use.

Widespread adoption by national health systems in different countries is needed to increase availability and affordability in practice.

Prof Paul Lockhart

Professor Paul Lockhart, Group Leader of Neurogenetic Research at the Murdoch Childrens Research Institute in Melbourne said that a Medicare rebate is currently available for the limited use of WGS where certain criteria are met, including new technology called ‘Rapid WGS’. Prof Lockhart added that whilst there is an overall cost advantage with WGS, the upfront government investment needed to establish such services is substantial.

He added that whilst equipment, technology and materials costs involved are decreasing somewhat, the demands on time of highly qualified scientists to curate and analyse the massive data sets generated by WGS is increasingly expensive, although it is expected that machine learning will perform much of this work affordably in the future. Here is information on the current costs of WGS.

From the published story:

Whole genome sequencing led to diagnoses for 25% of the thousands of participants in the study thought to have a rare genetic condition, 14% of whom would not have been diagnosed by different methods, the scientists said. “What’s novel here is that they took a very large population of rare disease cases across many different specialities,” said Heidi Rehm, the chief genomics officer at Massachusetts General Hospital and a researcher at the Broad Institute, who was not involved in the new study. “This supports the notion that genomic approaches are probably the best approach to tackle rare disease.”

Even though this pilot study focused on rare diseases was just published, the NHS has been using whole genome sequencing for certain patients for some time, linking clinical information about their conditions with their genetic information to identify the roots of their disorders. The first diagnoses from the project came in 2015.

The researchers said that it provides more patients with firm diagnoses and shortens the often years-long “diagnostic odyssey” that many people with rare disease have to embark on to identify their conditions.

“Publishing this today gives a platform for the rest of the world to adopt this,” said Sir Mark Caulfield, one of the authors and former chief scientist at Genomics England. “It’s our duty to get this out there so others can use this to bring these benefits to everyone across the world with rare disease.”

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SOURCE: STAT NEWS, Nov 10, 2021

Sequencing whole genomes helps diagnose far more rare diseases, study shows

by Andrew Joseph, General Assignment Reporter

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