Call for genome sequencing pilot in newborn screening

A new report has called for genome sequencing to be trialled alongside the nine tests that currently comprise newborn screening in the UK.

Including genome sequencing would facilitate testing for a greater number of rare genetic conditions and diseases, bringing the UK in line with the level of genetic testing performed in other countries, according to Genetic Alliance UK's report.

'The pace of adoption of new blood spot screening programmes in the UK has become so slow that we have been left behind by the majority of high-income countries,' Dr Jayne Spink, Chief Executive of Genetic Alliance UK, told HuffPost. 'It is painful to think of the unnecessarily long diagnostic pathways that some families in the UK must endure, and worse to think of the missed opportunities – including treatment.'

In the UK, parents can consent to have a blood sample taken from their newborn which is then sent away and tested for nine conditions that are rare, but serious. Getting an early diagnosis of a rare disease before symptoms begin can help families pursue treatment early or plan for the family's future. In other countries, a broader number of rare diseases and other conditions are tested for in the screening. Many countries in Europe test for 20 or more conditions, and US parents can opt to test for more than 50.

Which tests are included in newborn screening is determined by the UK National Screening Committee, which makes recommendations every three years. The Genetic Alliance UK report recommends that genome sequencing be piloted alongside current screening. Adding genome sequencing could expand the range of conditions tested for, and has the potential to shorten the period of diagnosis while remaining cost-effective.

'We have to ensure that newborn screening keeps pace with diagnosis in later life and we must embrace the potential of both current technology and that of genetics.' Said Dr Spink.

The National Screening Committee will be making its next recommendations in the Autumn.