Genome Sequencing Trial To Test Benefits of Identifying Genetic Diseases At Birth

An anonymous reader quotes a report from The Guardian: Genomics England is to test whether sequencing babies' genomes at birth could help speed up the diagnosis of about 200 rare genetic diseases, and ensure faster access to treatment. The study, which will sequence the genomes of 100,000 babies over the next two years, will explore the cost-effectiveness of the approach, as well as how willing new parents are to accept it. Although researchers will only search babies' genomes for genetic conditions that surface during early childhood, and for which an effective treatment already exists, their sequences will be held on file. This could open the door to further tests that could identify untreatable adult onset conditions, or other genetically determined traits, in the future. The study aims to recruit 100,000 newborn children to undergo voluntary whole genome sequencing over the next two years, to assess the feasibility and effectiveness of the technology - including whether it could save the NHS money by preventing serious illness. It will also explore how researchers might access an anonymized version of this database to study people as they grow older, and whether a person's genome might be used throughout their lives to inform future healthcare decisions. For instance, if someone develops cancer when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them. Dr Richard Scott, chief medical officer at Genomics England, said: "At the moment, the average time to diagnosis in a rare disease is about five years. This can be an extraordinary ordeal for families, and it also puts pressure on the health system. The question this program is responding to is: 'is there a way that we can get ahead of this?'" "The bottom line here is about us taking a cautious approach, and developing a view jointly nationally about what the right approach is, and what the right safeguards are," he added.

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