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Nationwide UK public dialogue supports whole genome sequencing in newborns

12 July 2021
Appeared in BioNews 1103

Members of the UK public are largely supportive of the use of whole genome sequencing (WGS) in newborn screening, according to a national public dialogue. 

Currently, newborns are tested at day five, via heel prick or 'blood spot' tests, for nine serious, but treatable, genetic conditions include cystic fibrosis, sickle cell disease and certain metabolic disorders.

'Genomics has the potential to identify a wider set of conditions than the current NHS newborn screening programme. This could offer us the ability to apply interventions at the earliest opportunity that could cure, prevent or slow down the progression of a range of illnesses and disabilities. It also has the potential to kick-start a revolution in the way we find, and make available, new diagnoses and treatments for children with rare but very serious diseases, and transform their life chances.' said Professor Sir Mark Caulfield, former chief scientist at Genomics England.

The dialogue commissioned by Genomics England, the UK National Screening Committee and UK Research and Innovation's Sciencewise was designed to explore the public opinion on using WGS in newborn babies to identify a wider set of conditions that affect young children and where a diagnosis can improve prognosis.

'There are probably about 600 conditions where there is a potential early life intervention, and these all present before your fifth birthday' said Professor Caulfield.

There are a number of serious ethical questions raised around genetic testing programmes. They include whether testing may lead to unnecessary anxiety and/or treatment, when the children should be made aware of their results. Ethnic bias, meaning that tests are less accurate or informative for people from ethnic minorities is another potential problem and is caused by tests developed using genetic datasets that are drawn largely from people of European background.

The findings of the 130-person dialogue suggest that WGS of all newborns could have public support – with participants hoping it could lead to a move towards a 'more prevention-focused NHS' – but the participants stressed that parents and families will need to be given support to deal with the psychological and emotional impacts of a diagnosis.

Professor Bob Steele, Chair of the UK National Screening Committee, said 'We heard loud and clear that the right level of support must be available for parents at every stage of the screening process and that any use of genome sequencing in newborn screening has to work for everyone in society.'

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