Up to 100,000 newborn babies in England will soon be screened for dozens of genetic conditions in what is being hailed as a “world-leading research” project within the NHS. The Generation Study, a collaboration between Genomics England and NHS England, will involve offering whole genome sequencing to newborns using blood samples typically taken from the umbilical cord shortly after birth. The study aims to identify over 200 rare conditions, including Metachromatic leukodystrophy (MLD), which leads to a gradual loss of physical and mental abilities.
Over 500 blood samples have already been collected from newborns at 13 NHS hospitals as part of this initiative, with plans to expand to around 40 hospitals in the future. Detecting these rare genetic conditions at an early stage could benefit hundreds of children by enabling earlier diagnosis and treatment that could potentially slow down disease progression or prolong their lives. Currently, these conditions can be challenging to diagnose, causing delays in providing care.
Whole genome sequencing offers a comprehensive analysis of an individual’s genetic code, identifying variations linked to specific health conditions. The Generation Study targets these conditions in seemingly healthy babies, whose symptoms may only manifest later in life. Pregnant women and their partners are informed about the research during routine appointments and are given the opportunity to participate. If they opt-in, a blood sample is collected at the time of birth and sent for sequencing.
Within 28 days, parents receive test results if a condition is suspected, or within a few months if no issues are detected. For newborns identified with treatable childhood conditions, families are offered additional NHS testing for confirmation, as well as ongoing support and treatment. Health and Social Care Secretary Wes Streeting emphasised the importance of predictive, preventative, and personalised healthcare to improve the NHS and provide appropriate support and treatment for families nationwide.
NHS chief executive Amanda Pritchard highlighted the potentially life-changing impact of diagnosing rare conditions in newborns early through genomic testing. The study is not intended to replace the routine NHS blood spot screening but serves as an additional measure. The launch of the Generation Study marks a significant moment, with the potential to shorten the diagnostic journey for children with rare conditions, leading to timely and life-altering treatment.
The study also aims to enhance understanding of the genetic basis of health, potentially paving the way for novel treatments. Additionally, preserving genetic information from birth may offer valuable insights for individuals diagnosed with illnesses later in life. The initiative represents a crucial step towards advancing personalised medicine and improving outcomes for children affected by rare genetic conditions.