The family of a baby who was found to have a rare eye cancer and whose sight is now expected to be saved have said that their decision to take part in a world-leading research study at Sheffield's Jessop Wing has changed their young son’s life “phenomenally".
Families across England are taking part in the study, which is being led by Genomics England in partnership with NHS England, and is screening 100,000 newborn babies in England for more than 200 genetic conditions using a technique called whole genome sequencing.
Vicky and Joey Underhay, who signed up to the study at Jessop Wing, are one of the first families to benefit.
Just four weeks after their son, Freddie, was born at the specialist maternity unit in April, he was diagnosed with a rare and aggressive form of eye cancer.
The cancer was detected because he was enrolled in the Generation study which is screening 100,000 newborn babies in England for more than 200 genetic conditions.
Only around 44 children are diagnosed with retinoblastoma, a rare hereditary condition caused by a change in his RB1 gene, every year in the UK, and catching it early is crucial for preserving vision.
When there is no known family history, diagnosis often comes later, once symptoms have progressed.
Early detection key
Thanks to taking part in the study, samples of Freddie's blood - taken from the umblicial cord shortly after birth - were sent off for whole genome sequencing, a technique used to read all of someone’s DNA to understand their genetic makeup. As a result, his rare sight-threatening condition was identified much earlier than usual.
Freddie's mum 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.”
Within four days of finding the genetic abnormality Freddie was seen by experts at Birmingham Children’s Hospital, where a tumour was found, with doctors now optimistic that this early detection could be key to preserving his eyesight.
Dr Joe Abbott, Freddie's ophthalmologist at Birmingham Children's Hospital, 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.”
Freddie was given a combination 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.
Life-changing impact
Dad Joey Underhay said: “Our decision to join the Generation Study has changed Freddie’s life phenomenally. We were told that the first six 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, who described the turnaround as "incredibly quick", said:
"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.”
The couple are now keen to raise awareness of the life-changing impact of joining the Generation study spoke of their gratitude to the Jessop Wing team:
"We can’t thank the midwives who signed us up enough, along with the national Generation Study team, for identifying Freddie’s genetic mutation causing cancerous tumours in his eye. It is an incredibly rare case but other genetic conditions, if treated early, can have life-changing outcomes. This is true for our little boy. This testing is so important for new mums and babies to be offered and take part in."
Study progress
The Generation Study is currently running in 51 different hospitals in England, including Jessop Wing , and is looking for more than 200 rare conditions which usually appear in the first few years of life. Although rare, these conditions are treatable on the NHS and can be improved if caught early.
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.
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.
Natalie Khoaz, Research Midwife and Principal Investigator of the study at Jessop Wing, said: “Jessop Wing is proud to be taking part in the Generation Study. Our midwives have worked phenomenally hard to recruit newborns into the study, so to hear the direct impact of our efforts on this baby and family’s life is truly humbling.”
Dr Rich Scott, Chief Executive Officer of Genomics England, said: “We believe genomics can transform healthcare in this country and be used to get ahead of serious illness. It’s been incredibly moving to see the life-changing impact the Generation Study is having for families like Freddie’s, who have been able to access treatment that makes a world of difference soon after being born.
“Every year thousands of babies are born in the UK with rare genetic conditions, but they can be hard to diagnose. On average, it takes around five years for a rare condition to be diagnosed, at which point it has often progressed to the point where treatment, if it exists, is far less effective.
“We’re fortunate that UK is uniquely placed to test and – if the evidence supports it – roll out genomic innovations that help us move towards preventing sickness, not just treating it. The Generation Study is an example of just that – a national-scale research study developing evidence to inform whether every baby should be offered genomic sequencing. It’s an important step towards a future of healthcare that is more preventative, with genomics playing a key role in that throughout someone’s life.”
Preventative healthcare
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.
Expectant parents can register their interest or find more information on the Generation Study website and select Sheffield on the dropdown menu or contact the Jessop Wing Generation Study Team by telephone on 0114 226 8333 or email sth.generationstudy@nhs.net.