How early can the genomic screening detect diseases in babies?

Genomic screening can detect hundreds of rare, treatable diseases in a baby's first years of life, enabling earlier identification and treatment.

Is participation in the baby genome screening study mandatory?

No, participation in the study is entirely voluntary for parents-to-be, with researchers offering information sessions if interested.

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Newborns' DNA screened for rare diseases

Q: What rare diseases will the new baby screening study identify?

The study aims to identify conditions such as spinal muscular atrophy and metachromatic leukodystrophy (MLD) by screening babies' entire genomes.

24 Jan

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Summary

Babies' full genomes will be screened for hundreds of rare, treatable diseases.
Study aims to identify conditions like spinal muscular atrophy and MLD early.
Participation is voluntary, with potential for earlier treatment and life-changing information.

Newborns' DNA screened for rare diseases

A significant new study is set to revolutionize infant healthcare by screening babies' entire genomes for rare diseases. Led by Dr. Uma Rajesh at Hull Royal Infirmary and involving more than 40 NHS trusts, the initiative offers expectant parents the opportunity to learn about their baby's health at a very early stage.

The study focuses on identifying hundreds of rare, treatable conditions, such as spinal muscular atrophy and metachromatic leukodystrophy (MLD), within a baby's first years. This advanced genomic screening aims to detect these issues much sooner than traditional methods.

Participation in the study is entirely voluntary. Parents-to-be will be informed about the research during pregnancy and offered further details by a research midwife if interested. This early detection holds the potential to enable families to begin crucial treatments sooner, offering a better outlook for affected infants.