The NHS is testing hundreds of babies for more than 200 genetic conditions in a new genomics-powered study that aims to catch rare diseases as early as possible.
Known as the Generation Study – led by Genomics England and NHS England – the world-leading project will see babies offered whole genome sequencing using blood samples taken from the umbilical cord.
The study comes after extensive consultation with:
- Public, parents and family members impacted by rare conditions
- Health professionals
- Policymakers
- Scientists
Expansion planned
Over 500 blood samples have been taken so far as part of the study, with the NHS looking to expand the number of hospitals participating, from 13 to around 40.
NHS scientists believe they can identify more than 200 conditions in otherwise asymptomatic babies, giving families the best chance possible to access support, monitoring and treatment.
Once taken from a consenting party, the blood test will be taken to a laboratory for whole genome sequencing, with the health service targeting a maximum 28-day turnaround on results if a specific condition is suspected – this grows to within a few months if no condition is suspected.
If a condition is suspected, further familial testing will be conducted to confirm a diagnosis.
Going further in genomics
NHSE CEO, Amanda Pritchard, described the study as life-changing for families and transformational for patients.
She said: “The NHS is a world leader in genomics, and this study demonstrates the benefit of our partnership with Genomics England – allowing us to deploy cutting-edge technology to improve patients’ lives.”
CEO at Genomics England, Dr Rich Scott, hailed the news as a pivotal moment in the future of genomics.
“Children with these conditions often go years without receiving a diagnosis,” he said on the thousands of children born every year with treatable conditions. “Cutting this time would mean earlier access to what can be life-changing treatment.”
Examples of these conditions include metachromatic leukodystrophy and osteogenesis imperfecta.
Health secretary Wes Streeting, added: “To fix our broken NHS, we need to ensure the future of healthcare is more predictive, more preventative and more personalised.
“This kind of advance in genomics will help us achieve just that – ensuring families across the country have access to the right support and treatment for their loved ones.”
Image credit: iStock
