Extra support for families signing up to Generation Study
Birmingham parents of newborn babies who are suspected of having a rare disease detected as part of a national study will receive extra support from health visitors.
The Generation Study tests for more than 200 rare but treatable genetic conditions in newborn babies, with the aim of early diagnosis.
Health visitors around Birmingham are now equipped with a deeper knowledge and understanding about the support they can offer to families who receive a ‘condition suspected result, thanks to further training they have received via an initiative called the Birmingham Pathway.
It has been created in collaboration between the Institute of Health Visiting, our Women's Hospital, Central and South Genomics and Birmingham Community Healthcare NHS Foundation Trust.
The pathway gives health visitors training to follow with a step-by-step process and support from a regional results coordinator.
It also ensures these healthcare professionals are informed about results before they visit affected families.
Rachel Puddephatt, the Regional Results Coordinator for The Generation Study for Central and South Genomics who is a specialist midwife at our Women’s
Hospital, explained: "Health visitors informed us that they didn't feel they had all the information about the study when caring for children and their families who had received ‘condition suspected results’.
"We worked in partnership to create the Birmingham Pathway to help bridge this gap and make sure that families receive early and informed support during what can be a very difficult time of uncertainty.
"The pathway has been really successful so far and has already made a huge difference to the care we provide to families who've had a condition suspected results back and are waiting for test results that confirm the diagnosis."
The health visitor will then support families through testing which will either confirm or exclude a genetic condition. If a condition is confirmed they can help to connect the family with further care, support and referrals.
Whilst most families will receive a ‘no condition suspected result’, more than 250 babies so far have required more tests.
Where a rare genetic condition is found, the care or treatment can be started early, which aims to improve outcomes for the baby.
The Generation Study has been running for more than two years and is one of the largest newborn genome-sequencing studies ever performed.
The aim has been to screen 100,000 babies and as of September, has recruited more than 90,000 in England. Our Women’s Hospital has signed up more than 4,000 families to the study – one of the highest recruiting centres in the country.
Find out more about the study and other maternity research studies on the Birmingham Women’s and Children’s NHS Foundation Trust website at: Maternity Research | Birmingham Women's and Children's.