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  • seqadmin
    Senior Member
    • Oct 2022
    • 729

    #1

    Identifying Genetic Diseases at Birth with Genome Sequencing

    Genomics England is launching a new research study, Newborn Genomes Programme, designed to sequence babies’ genomes at birth. England’s National Health Service (NHS) already offers blood screening tests for newborns to detect a limited number of conditions, but many disorders aren’t included in these tests. This program is designed to assess whether genomic sequencing of newborns will speed up diagnosis, save money through early intervention, and increase access to treatments for genetic conditions.

    The plan is to sequence over 100,000 infants’ genomes and analyze the data by screening for various genetic conditions. The search will be limited to conditions that occur during early childhood and are currently actionable, meaning there are available treatments. Newborns with detected and actionable conditions will then receive the necessary care from the NHS.

    Additional focus will be placed on understanding the clinical benefits of storing genomic information throughout an individual’s lifetime. After initial analysis, the newborn’s sequencing data will be stored away and potentially reanalyzed to understand future problems, such as cancer treatments.

    Parents of the newborns may also consent to have their babies’ genome de-identified and added to England’s National Genomic Research Library. Healthcare researchers will use this information to better understand various diseases and potential treatments.

    While the NHS is the only institution with this extensive program in place, there are hopes that successful results will encourage other organizations to implement similar testing requirements.

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