UK plans to screen for about 200 rare genetic diseases

UK plans to sequence the genomes of 100,000 newborns to screen for about 200 rare genetic diseases

The United Kingdom has announced plans to sequence the genomes of 100,000 newborns starting next year to screen for about 200 rare genetic diseases, according to Science news.

The project, expected to cost $129 million, is being carried out by Genomics England, which is funded by the British government.

UK parents-to-be covered by the NHS will be invited to voluntarily participate in the project starting in 2023 to assess the feasibility and effectiveness of the technology.

The 200 genetic mutations for the diseases have been well-studied and will almost certainly cause symptoms by age 5, but are all treatable, according to the report.

The project is expected to identify about 500 newborns with one of these genetic disorders.

If the scope is extended to the whole of the UK, it is expected to find 3,000 babies with the disease each year.

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