Fri. Dec 3rd, 2021

The underlying genetic causes of hundreds of seriously ill patients in the UK suffering from undiagnosed conditions have been identified through a groundbreaking project, which scientists believe will reduce the cost to the NHS of treating rare diseases and improving patient care.

First scientific results of the 100,000 Genomes Project, a £ 300 million five-year initiative funded mainly by the British government, were published in the New England Journal of Medicine on Wednesday.

Whole genome sequencing – reading all 3 billion biochemical letters of each individual’s genetic code – made it possible to diagnose the underlying cause of rare diseases in 535 patients from the 2,183 families who participated in the early stages of the project.

The scientists said that three-fifths of the patients missed their diagnosis through more conventional tests, including less advanced forms of genomic testing.

The UK leads the world in genomic sequencing and the researchers said it could unlock new treatments for 3 million Britons suffering from rare diseases and lead to huge cost savings for the NHS. The pilot study analyzed the genes of more than 4,600 people in total – patients and their families.

The study found that those who received a diagnosis from the study were able to benefit from “more focused clinical care,” including further family examinations, dietary changes, and other therapies.

Mark Caulfield, the former chief scientist at Genomics England, who launched the project in 2013, said the earlier, more accurate diagnosis made possible by whole genomic sequencing would accelerate the path to patient treatments.

He added that it would also save the health service money by reducing the need for regular hospital stays.

“Because it’s part of repeated, continuous care and these people are in and out of the system all the time, they use a lot of resources,” Caulfield said. “If we could focus it on getting the diagnosis, and that’s what we’re hoping for from this program, then we can use fewer resources to monitor them and maybe in some cases move … to treatment.”

The patients in the study had more than 180,000 hospital visits at a combined cost of approximately £ 87 million to the NHS.

One of the lead researchers, Damian Smedley, professor of computational genomics at London’s Queen Mary University, said a large proportion of the diagnoses “would not have been detected by existing approaches”.

The use of whole-genome sequencing helped “solve the ‘needle in a haystack’ challenge” to find the cause of rare disorders, Smedley said. He called on healthcare systems worldwide to adopt genome sequencing.

For certain disease categories, including rare hearing or eye disorders and intellectual disabilities, genomic testing has led to the successful diagnosis of more than 40 percent of patients.

Dr Richard Scott, chief medical officer at Genomics England, said the study showed how genomic diagnostics can improve outcomes for patients with rare diseases, as in the past a diagnosis often involved “multiple different targeted tests – an approach that diagnoses and accesses to delay more custom care “. . ”

Since its inception, the project has analyzed 100,000 genomes of people affected by rare diseases and various cancers and their family members, but has yet to analyze all the results. After the project was completed in 2018, the NHS adopted the techniques as part of its Genomic Medicine Service and undertook to use them to sequence at least 300,000 genomes by 2025.

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