A boy born with a rare form of eye cancer, usually diagnosed in very young children, is one of numerous babies born with rare conditions who are receiving earlier diagnoses and faster, life-changing treatment through the Generation Study – a world-leading research study led by Genomics England in partnership with NHS England that is using whole genome sequencing to screen 100,000 newborns and look for more than 200 rare genetic conditions. Bradford Teaching Hospitals NHS Foundation Trust is one of the sites taking part in this life-changing study.
Completing the Generation Study is a key part of England’s 10 Year Health Plan. The findings will help inform the Government’s long-term ambition to offer genomic sequencing to all newborns as part of routine care – making it possible to detect and treat serious conditions early in life. This ambition will be subject to the important evidence and data the Generation Study gathers.
So far, over 20,000 participants have joined the study and more than 60 ‘condition suspected results’ have been returned by Genomics England to the NHS for confirmatory testing.
‘Our decision to join the Generation Study has changed Freddie’s life phenomenally’
Vicky and Joey Underhay’s son, Freddie, is one child who has benefitted from being part of the study.
Four weeks after being born at the Jessop Wing at Sheffield Teaching Hospitals NHS Foundation Trust in April and having his genome sequenced, Freddie was diagnosed with hereditary retinoblastoma, caused by a change in his RB1 gene. Retinoblastoma is a rare and aggressive form of eye cancer usually diagnosed in very young children. Around 44 children are diagnosed with retinoblastoma every year in the UK, and early detection is crucial for preserving vision. However, when there is no known family history, diagnosis often comes later, once symptoms have progressed.
Vicky Underhay said: “There were no signs that anything was wrong. He was a normal little baby, so the results came totally out of the blue. He had passed all his eye tests in hospital.”
Very shortly after his diagnosis, Freddie was able to start treatment at Birmingham Children’s Hospital, which is one of two specialist centres that treat retinoblastoma in the UK. This gives doctors the best chance to minimise the impact on his vision.
Freddie has undergone a mix of chemotherapy and laser treatment to treat the tumours in his eyes. Due to the nature of retinoblastoma and the genetic change involved, Freddie will need ongoing treatment, monitoring, and specialist care for the foreseeable future. He will be having regular eye screenings up until the age of 16 in Birmingham.
Joey Underhay said: “Our decision to join the Generation Study has changed Freddie’s life phenomenally. We were told that the first 6 months is vital in diagnosing and treating the condition. There’s no telling at what point it would have been discovered if we hadn’t taken part and what might have happened.
“The care that Freddie has received, and us as parents as well, has been second to none. We can’t thank everyone enough for all that they’re doing for Freddie.”
Vicky Underhay added: “When you sign up to research like this, you think it will never be you. But if we had thought ‘ignorance is bliss’ then the cancer would have spread down his optic nerve and into his body. We’re hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future.”
Dr Joe Abbott, Freddie’s ophthalmologist, said: “The chances of protecting Freddie’s eyesight have been greatly improved by finding out about his eye tumours earlier, thanks to the family participating in the Generation Study.”
Study progress
The Generation Study is currently available in 51 different hospitals in England.
It is offering participating families whole genome sequencing for their baby using blood samples taken shortly after birth. Whole genome sequencing is a technique used to read all of someone’s DNA to understand their genetic makeup. The Generation Study is looking for more than 200 rare conditions which usually appear in the first few years of life, can be improved if caught early, and can be treated in the NHS.
While the whole genome is sequenced, the study is only looking for changes in genes that are expected to cause a defined list of 200+ rare conditions.
The study, which launched in 2024 and will run until 2027, has already identified numerous conditions – allowing those babies to receive vital treatment at an earlier stage that can slow their condition’s progression or stop them from becoming ill. Around 1% of babies in the study will be suspected to have a condition, which is then confirmed with follow-up testing in the NHS.
How to take part in the study
For the Generation Study, those interested in taking part can self-register via this link:
Alternatively, you can contact our Maternity Research team at Bradford Teaching Hospitals NHS Foundation Trust on:
Generation.Study@bthft.nhs.uk / call: 07508050297