Hundreds of newborn babies in England are now being tested for more than 200 rare genetic conditions as part of a world-leading study in public hospitals across England.

The campaign is part of the Generation Study led by Genomics England in collaboration with National Health Services England, which will screen 1,00,000 babies, offering early diagnosis and treatment for conditions such as metachromatic leukodystrophy (MLD).

This initiative uses whole genome sequencing, taken from a baby’s cord blood soon after birth, to detect treatable genetic conditions before symptoms appear.

By identifying these conditions early, families can receive the 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 can prevent serious health complications and reduce hospital visits, helping children lead healthy lives.

Why is genetic screening important in infants?

Genetic testing is important because it helps detect rare genetic conditions early, often before symptoms appear.

This allows timely intervention, such as treatment or lifestyle changes, which can prevent or reduce the effects of diseases. In newborns, early genetic testing can identify conditions that might otherwise go undetected until later in life, allowing prompt medical care and support.

“Diagnosing rare conditions in newborns at the earliest opportunity through genomic testing could be truly life-changing for families, it has the potential to give thousands of children the chance to access the right treatment at the right time, thereby “To give them the best possible start.” for life, and for families to plan better for their care,” said NHS Chief Executive Amanda Pritchard.

Parents are informed about the study during pregnancy, and if they choose to participate, a blood sample is collected from their child after birth for genome sequencing.

The results are reviewed by government genomic experts, with parents informed within 28 days if a condition is detected, or within a few months if no problems are found.

If a treatable condition is identified, further testing and ongoing support is provided by health authorities to ensure the child gets the necessary care.