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First Newborns Screened for 200+ Genetic Conditions as Groundbreaking Study Launches in NHS Hospitals

NextEdge Admin

04 Oct 2024

2 min 42 sec

Genomics England,rare genetic conditions,Newborn screening

Hundreds of newborns are being tested for over 200 rare genetic conditions in a groundbreaking study led by Genomics England, in partnership with NHS England. The Generation Study, which aims to screen up to 100,000 babies, uses whole genome sequencing to detect conditions like metachromatic leukodystrophy (MLD) soon after birth. The goal is to enable earlier diagnosis and treatment, potentially improving or extending the lives of children.

Blood samples are collected from newborns at 13 NHS hospitals, with plans to expand to 40. Expectant parents are informed about the study during pregnancy, and if interested, a blood sample is taken from the baby’s umbilical cord shortly after birth. Genomic scientists review the results, with findings shared within 28 days if a condition is suspected.

By identifying rare but treatable conditions before symptoms appear, families can access timely treatment and support, helping prevent long-term health problems and reducing hospitalizations. The study focuses on early intervention, which could be life-changing for children affected by these genetic conditions.

This initiative, part of the NHS's ongoing commitment to genomics, complements the routine heel prick test, which screens for nine rare conditions. The study aims to determine whether whole genome sequencing should be offered to all newborns to detect hundreds of rare diseases early on.

Lucy White’s son, Joshua, who has juvenile MLD, exemplifies the need for earlier diagnosis, as his condition was discovered too late for treatment. The study hopes to spare other families from similar experiences and help improve healthcare outcomes for future generations. It also explores the potential of storing an individual's genome for lifelong use in predicting, diagnosing, and treating future illnesses.