Newborn genomic screening identifies ALD risk in two brothers

A baby taking part in the Generation Study has been identified as carrying a mutation linked to the rare condition adrenoleukodystrophy (ALD), prompting his older sibling to also be tested.

Baby Revan's mother had agreed to participate in the Generation Study, an initiative launched in 2024 as a partnership between Genomics England and NHS England, during her pregnancy (see BioNews 1261). The study uses whole genome sequencing to test 100,000 newborns for over 200 rare genetic conditions (see BioNews 1259). Sequencing is done on blood samples taken from babies' umbilical cords or from heel pricks. The results of Revan's screening prompted older brother Thorin to be tested as well. He was also found to be the carrier of an ALD-associated mutation.

'We are really pleased that the Generation Study has helped Revan's family receive an early result for both of their children. This is exactly the kind of evidence the study is designed to build, showing how whole genome sequencing at birth could support earlier diagnosis, earlier care and better understanding of rare genetic conditions,' said Professor Richard Scott, chief executive officer at Genomics England. 'Every family who takes part is helping us learn how genomics could be used safely, responsibly and effectively in the NHS in the future.'

The mutations identified in Revan and his sibling mean the children are both at risk of developing ALD, a condition associated with a progressive decline in vision, movement, cognitive abilities and adrenal function. Early diagnosis is crucial, as treatment for the neurological issues caused by the disease is only possible before symptoms manifest. The brothers will be closely monitored through MRI scans and blood tests until they are about 12 years old to catch the condition as quickly as possible if it develops.

'Finding out your baby is at risk of a serious condition is incredibly difficult, but knowing early can make a huge difference... For Revan and Thorin, that means regular checks and proactive care, not just waiting and only stepping in after any symptoms appear,' said Professor Frankie Swords, national medical director at NHS England. 'Across the NHS, specialist teams are supporting families taking part in the Generation Study, confirming results and making sure babies who need it get the right monitoring, care and treatment as early as possible.'

The Generation Study will be used to provide evidence as to whether such newborn genetic screening should be implemented widely in the NHS. A year after its launch, more than 60 results required further investigation by the NHS due to a health condition being suspected. Among the babies that benefited from this screening is Freddie, whose rare form of aggressive eye cancer was caught before symptoms set in (see BioNews 1312).

Revan's mum said of her participation: 'I feel so lucky; instead of feeling worried, I feel so ridiculously lucky that we timed having a baby when the Generation Study was out there as an option.'