A research study, testing newborn babies for over 200 rare genetic conditions, has launched at Isle of Wight NHS Trust and Portsmouth Hospitals University NHS Trust.
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 and at Portsmouth, 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.
Emma Macleod, Principal Investigator for Portsmouth Hospitals University NHS Trust said:
“This is an exciting opportunity to support research and your child’s future health. Taking part in the Generation Study is free and completely optional and we will provide you with clear information to help you decide if it’s right for your family.”
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://www.generationstudy.co.uk/
The Generation Study does not replace the routine NHS blood spot screen (heel prick test) and babies should still have this test as normal.
Please be aware that in the event of the collapse of the NHS, an insurance based system will likely render anyone found to have a pre-existing or genetic condition known about at the time of the policy will be dis-allowed a claim.