Amanda Pichini
Clinical Director at Genomics England
The Generation Study is providing earlier diagnoses and faster, life-changing treatment for babies around the country.
Every year, thousands of babies are born in the UK with rare genetic conditions, and early intervention can enhance the health and quality of life of many babies.
The Generation Study is an innovative research study looking to improve how we screen for these conditions. It’s using whole genome sequencing to screen for over 200 rare conditions in 100,000 newborns, providing earlier diagnoses and access to critical treatment.
Life-changing impact
After his parents chose to participate in the study, Freddie Underhay was diagnosed with hereditary retinoblastoma — a rare form of eye cancer — four weeks after being born and having his genome sequenced. Early detection is crucial for preserving vision, but when there’s no family history or signs of a vision problem — like in Freddie’s case — diagnosis often comes later.
After having his genetic code analysed, Freddie was able to start treatment at a specialist centre treating retinoblastoma within weeks, giving doctors the best chance to minimise the impact on his vision.
Freddie is one of more than 35,000 babies currently signed up to the study and one of over 90 results we’ve returned to the NHS where a condition is suspected. NHS specialists carry out important confirmatory tests; as with any screening programme, there’s a small chance of incorrect or uncertain results.
Every rare condition we’re looking for has an intervention available
that could make a considerable difference in how that child grows up.
Generating important evidence
The UK Government has outlined its ambition for newborn genomic sequencing in its 10 Year Health Plan for England. The insights and evidence from the Generation Study will guide this, including the ‘whether’ and ‘how’.
Rare Disease Day is a powerful reminder of the need to improve the lives of people living with a rare condition. Genomics can play an important role in that and help get ahead of serious illness. And when completed, the Generation Study will generate first-of-its-kind evidence that could help to change the future of genetic health.
