Publish date: 21 January 2026
Genomics England, in partnership with NHS England, is leading the Generation Study. A major national programme aiming to screen up to 100,000 newborns across England for over 200 rare conditions.
Now available on the Isle of Wight, the study uses a small blood sample from the umbilical cord to look at a baby’s complete set of genes, called their genome. It can help detect treatable and rare conditions shortly after birth, including Spinal Muscular Atrophy (SMA), Cystic Fibrosis and rarer conditions like Barth Syndrome.
Early detection means children can benefit from earlier diagnosis and treatment, which may slow disease progression, improve daily life and help them live longer.
Expectant parents will be told about the study during pregnancy and can speak with the research team if interested or have questions. Parents can also register their interest online through the Generation Study website and the research team will be in touch.
Families who take part will have a small blood sample taken from the umbilical cord shortly after birth or a heel prick test if the cord sample isn’t possible. The sample is sent to a lab for testing and is then reviewed by NHS genetic experts.
Sharon McCready, Principal Investigator for Isle of Wight NHS Trust said: “This pioneering study will help ensure that babies with potentially life-changing conditions are diagnosed much earlier. Ultimately, this will help the NHS provide families with the right support sooner and enable children to lead healthier lives”.
Genomics England aim to send the results to the parents as quickly as possible. Parents will be told by letter or email if no condition is found. If a possible condition is detected, an NHS specialist will phone the parents to explain what happens next.
If a condition is confirmed, families and carers will be offered further NHS tests, care and treatment, with ongoing support.
To take part in the Generation Study you must have spoken to our research team and given your consent, be pregnant, be 16 years or over, be registered with a GP in England and be expecting a single baby. Study information is also available in multiple languages.
To find out more and register your interest visit: https:/
The Generation Study does not replace the routine NHS blood spot screen (heel prick test) and babies should still have this test as normal.
Notes to Editors:
The Generation Study has been developed following extensive consultation with the public, parents and families affected by rare conditions as well as healthcare professionals, policy makers and scientists.
Genomics England is owned by the Department of Health and Social Care.
The Generation Study does not replace the routine NHS newborn blood spot test (formerly the heel prick test) which is recommended for all babies.
