New Study To Screen Newborns For Rare Genetic Conditions Launches On Isle Of Wight

A major national research programme is now available on the Isle of Wight, offering newborn babies the chance to be screened for more than 200 rare genetic conditions.

The Generation Study, led by Genomics England in partnership with NHS England, aims to test up to 100,000 babies across the country.

The study uses a small blood sample from the umbilical cord to analyse a baby’s complete set of genes, known as the genome.

This can help detect treatable and rare conditions, including Spinal Muscular Atrophy (SMA), Cystic Fibrosis, and very rare disorders such as Barth Syndrome.

Early detection means children can benefit from faster diagnosis and treatment, potentially slowing disease progression, improving day-to-day life, and supporting longer-term health.

Expectant parents are informed about the study during pregnancy and can speak with the research team if they are interested or have questions.

Parents can also register their interest online through the Generation Study website, after which the team will get in touch.

Babies taking part will usually have a blood sample taken from the umbilical cord shortly after birth.

If this isn’t possible, a heel prick test may be used instead.

The samples are analysed by NHS genetic experts, and results are sent to parents as quickly as possible.

Families are notified by letter or email if no conditions are found, while any possible conditions are followed up personally by an NHS specialist who explains next steps.

Sharon McCready, Principal Investigator for Isle of Wight NHS Trust, said the study could transform care for babies with rare conditions by helping families access support and treatment sooner.

Participation in the Generation Study is optional, free, and requires consent. Parents must be 16 or older, registered with a GP in England, expecting a single baby, and have spoken with the research team. Study information is available in multiple languages.

The Generation Study does not replace the routine NHS blood spot screen (heel prick test), which babies should continue to receive as normal.

For more information or to register interest, visit: https://www.generationstudy.co.uk