Amanda Pichini
Clinical Director, Genomics England
A new study is investigating the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatment is available.
I have met many families impacted by rare conditions and collectively we must do more for them. That means finding ways to diagnose rare conditions earlier so that support and treatment can be put in place sooner and supporting the development of new treatments for the future. The Generation Study — a research study led by Genomics England in partnership with NHS England — is looking to improve how we screen for rare genetic conditions for better outcomes.
Earlier diagnosis and improved knowledge
The Generation Study, currently live in 26 hospitals, is using whole genome sequencing to look for more than 200 rare conditions in up to 100,000 newborns.1 Parents sign up during pregnancy and a sample — typically from the umbilical cord — is collected shortly after birth. For children found to have one of these conditions, they could be diagnosed and access life-changing treatment years earlier than the typical ‘diagnostic odyssey’ experienced by many families.
The study will also support broader research to help us learn more about the causes of genetic conditions and improve future testing and treatment. We’re asking all parents’ permission to securely store their baby’s genome and health information, which can be accessed for approved healthcare research, without researchers knowing babies’ identities.
Genomics will be a key part of
that across the lifetime, and its
role in newborn screening
has enormous potential.
We’ve taken great care to develop the study with extensive consultation with the public, parents and families affected by rare conditions, as well as healthcare professionals, policymakers and scientists. Thousands of parents have joined so far, as they want to be able to act early if their child has one of the conditions and they want to help others by contributing to research efforts.
The question of whether genome sequencing should be offered to every baby is complex, and one of the main aims of the study is to generate valuable data and evidence that will help guide decisions about whether and how.
A preventative healthcare shift
There’s broad consensus across government and industry that the future of healthcare is more preventative. We believe genomics will be a key part of that across the lifetime, and its role in newborn screening has enormous potential. This comes with many challenges and a need for continued discussion, but we have every hope the Generation Study could support a significant healthcare shift for the benefit of families with rare conditions along with the wider public.
[1] Source: Genomics England, 2024
