The study aims to identify more than 200 conditions, such as Metachromatic leukodystrophy (MLD), in babies sooner and could enable hundreds to benefit from earlier diagnosis and treatment.
The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples that are usually taken from their umbilical cord shortly after birth.
More than 500 blood samples have been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 hospitals.
Amanda Pritchard, NHS chief executive, said: ‘The NHS is a world leader in genomics, and this study demonstrates the benefit of our partnership with Genomics England – allowing us to deploy cutting-edge technology to improve patients' lives. If we can diagnose and treat children for rare genetic conditions years earlier, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and live independently – this will be transformational for patients and for the future of medicine.'
Dr Rich Scott, chief executive at Genomics England, added: '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.'
The study will support broader healthcare research to improve testing and discover more treatments and explore the potential of storing an individual genome over a person's lifetime and using it to help predict, diagnose and treat future illnesses.
Health and social care secretary Wes Streeting said: 'To fix our broken NHS, we need to ensure the future of healthcare is more predictive, more preventative and more personalised. This kind of advance in genomics will help us achieve just that – ensuring families across the country have access to the right support and treatment for their loved ones.'
