Around 100,000 newborns will have their entire genomes sequenced as part of a £105 million ($128.7 million) study looking at whether the practice could reduce the burden of rare genetic diseases in the UK. The study, led by Genomics England in partnership with the National Health Service, will test whether sequencing is a cost-effective way to prevent and treat childhood diseases. It will be funded as part of a £175m support package for genetic research from the Department of Health and Social Care, which was announced on Tuesday.
The program will run in addition to the heel prick test, which is part of the current newborn screening, which looks for nine rare diseases. The new project will analyze the complete DNA of the baby, and possibly both parents if abnormalities are found, and look for genes known to be linked to around 200 rare diseases that appear in the first five years of life. Diseases acquired in adulthood will not be evaluated.
Some of the conditions tested are much easier to treat if caught early, which could improve health and save the NHS money. David Bick, clinical advisor to the project, gave the example of biotinidase deficiency – a rare inherited disorder that affects the absorption of the mineral biotin. If left untreated, it can lead to seizures, developmental problems, and skin disorders, among other things. However, if diagnosed early enough, this condition can be treated with the use of biotin supplements.
“We can prevent a condition that could permanently damage a child and take years to resolve,” Bick said. “It’s hugely important and very gratifying for the families.” The first families will be enrolled at the end of next year, with the study expected to last several years. Researchers estimate that about 3,000 babies are born in the country each year who could benefit from this type of screening. However, these numbers may be artificially inflated due to the presence of false positive tests.
Some experts have expressed concern about casting a wide net for potential anomalies, including results that could be difficult to interpret or disorders for which there is no treatment. The testing is not “harmless”, especially as the parents’ genomes will be analysed, said Peter Braude, professor of obstetrics and gynecology at King’s College London. “It has potential health implications for the parents and their extended family – which they didn’t sign up for,” he said. “It could also reveal the unlikely but possible finding of non-paternity.”
Louise Fish, chief executive of Genetic Alliance UK, said the country should strive to get better value from its current newborn screening programme. 20 European countries use the heel prick test to screen for more diseases than the UK, and 13 of them screen for 20 or more conditions, she said. “This technology may not be as innovative or trendy as whole-genome sequencing, but it has just as much potential to improve the lives of babies and their families where tests are available for a specific rare condition,” she said.
