Rare eye cancer detected by newborn whole genome sequencing

A rare eye cancer, which may have otherwise been missed, has been detected in a newborn baby enrolled in the Generation Study.

Four-week-old Freddie was diagnosed with hereditary retinoblastoma, a rare form of eye cancer caused by a mutation in his RB1 gene, which regulates cell division and growth. The condition was discovered after a sample of his blood was sent for whole genome sequencing as part of the Generation Study, run by Genomics England alongside the NHS (see BioNews 1259). Freddie received chemotherapy and laser treatment, and his doctors are hopeful his eyesight will be preserved.

'Today's announcement is a major step forward for the NHS in the use of whole genome sequencing in newborns,' said Professor Dame Sue Hill, chief scientific officer, NHS England. 'Freddie's amazing story highlights the strength of our world-leading partnership with Genomics England, showing it is possible to identify rare genetic conditions like these earlier, so children can start treatment faster, meaning they have the best chance of a cure.'

In the UK, around 44 children are diagnosed with retinoblastoma each year. Early detection is crucial to preserve eyesight but, if there is no family history, the condition is often not diagnosed until symptoms have progressed.

The Generation Study is currently rolled out in 51 hospitals across England, with around 20,000 families already enrolled, and plans to recruit a further 80,000 newborns before 2027. Blood samples are taken from newborns, often from the umbilical cord, and whole genome sequencing is performed to screen for over 200 genetic conditions.

The hope is that prompt detection of these rare conditions will lead to earlier diagnosis, timely treatment and potentially prolong children's lives. So far, Genomics England has returned over 60 'condition suspected' results to the NHS for further testing.

'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,' said Freddie's mother. 'We're hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future.'

Genomics England acknowledged there is still a small risk of incorrect or unclear results with this test and that their whole genome sequencing is not intended to replace the NHS blood spot screen (heel-prick test) for newborns, which is already in use. Rather, the study aims to help inform the government’s ongoing long-term plans to routinely offer whole genome sequencing to all newborns (see BioNews 1297).