Study with 100,000 babies to look at faster diagnosis of rare conditions and how genetic data might be used 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.
Genome sequencing trial to test benefits of identifying genetic diseases at birth
The Guardian - 13 Dec 2022 02:01
Study with 100,000 babies to look at faster diagnosis of rare conditions and how genetic data might be used 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.
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