Listen to Story Hundreds of newborns in England are now being tested for over 200 rare genetic conditions as part of a world-leading study across government hospitals in England. This drive is part of the Generation Study, led by Genomics England in collaboration with National Health Services England, which will screen up to 1,00,000 babies, offering early diagnosis and treatment for conditions like metachromatic leukodystrophy (MLD). This initiative uses whole genome sequencing, taken from a baby's umbilical cord blood shortly after birth, to detect treatable genetic conditions before symptoms appear.
By identifying these conditions early, families can access necessary treatment , monitoring, and support, potentially improving or extending the child's life. Currently, more than 500 babies have been screened across 13 NHS hospitals, with plans to expand to around 40 hospitals. This early intervention could prevent serious health complications and reduce hospital visits, helping children live healthier lives.
WHY IS GENETIC SCREENING IMPORTANT IN BABIES? Genetic screening is crucial as it helps detect rare genetic conditions early , often before symptoms appear. By identifying these conditions early, families can access necessary treatment, monitoring, and support, potentially improving or extending the child's life. (photo: Getty Images) This allows for timely interventions, such as treatments or lifestyle changes, that can prevent or reduce the impact of diseases.
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