A major trial of genetic screening of new-born children has begun in England, aimed at identifying more than 200 rare conditions.
NHS England plans to use whole genome sequencing to screen up to 100,000 children using umbilical cord blood samples.
So far more than 500 children have taken part in testing at 13 NHS hospitals. The project will reach 40 hospitals, NHS England said.
The screening seeks to identify conditions that could be treated with early intervention, including bare lymphocyte syndromes, beta thalassaemia, severe combined immunodeficiency, combined immunodeficiency and megaloblastic anaemia, Diamond-Blackfan anaemia, haemophilia A and B, and sickle cell disease.
Dr Rich Scott, chief executive of Genomics England, said: “The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition.
“Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment. The Generation Study also shows the impact of our partnership with the NHS – meaning that the UK is uniquely placed to test, and, where proven, roll out genomic innovations to improve health and help us move healthcare increasingly to preventing illness”.
Professor Dame Sue Hill, Chief Scientific Officer for England, senior responsible officer for NHS Genomics, said: “By studying the potential of using whole genome sequencing from birth, we can find out whether delivering early treatments for rare genetic conditions could transform a young patient’s care and whether there are longer term benefits of having a whole genome sequence from birth. This is another example that demonstrates the importance of providing patients with access to the latest innovative research as part of their routine NHS care."
Source: NHS England
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