England launches genetic screening programme for 100,000 newborns

England has begun screening newborns for more than 200 rare genetic conditions as part of a programme to speed up diagnoses and improve care for up to 100,000 babies.

The initiative, called the Generation Study, involves taking blood samples from the umbilical cord shortly after birth and sending them to a laboratory for whole genome sequencing, identifying all of their DNA.

The goal is that parents will be informed within 28 days if scientists suspect that their child may have a rare but treatable genetic disorder such as haemophilia, growth hormone deficiency, or Severe Combined Immune Deficiency (SCID).

These conditions, which affect thousands of patients every year, often don’t cause symptoms until later in childhood, which can delay diagnosis. Speeding up that process means patients can receive treatment sooner, potentially boosting their prognosis and quality of life.

“If we can diagnose and treat children for rare genetic conditions years earlier, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and live independently,” National Health Service (NHS) Chief Executive Amanda Pritchard said in a statement.

More than 500 blood samples have already been taken from newborns in 13 NHS hospitals, with plans to expand the programme to about 40 centres.

The new study is an add-on to the heel prick test, which is offered to families with five-day-old babies and used to detect nine rare conditions. Researchers hope that whole genome sequencing will enable them to identify hundreds more potentially life-threatening conditions.

Need for follow-up to prevent ‘unnecessary anxiety’

Even so, it’s not certain that the programme will continue beyond the 100,000 babies expected to participate in the study.

“On the surface, it may sound a ‘no-brainer’ that the NHS should offer this to all babies,” Dr David Elliman, a clinical advisor to the UK National Screening Committee and an advisory board member for the Generation Study, said in a statement.

But with widespread screening programs, there’s always a risk of false-positives or inconclusive test results, or that patients will receive treatment for a condition that wouldn’t actually have affected their health.

“Therefore, it is important that the babies in this research study, who are suspected of having a health condition, are followed up carefully for some years to make sure that they have indeed benefitted from being tested and that their parents have not been put through unnecessary anxiety,” Elliman said, adding that those considerations are what will ultimately determine whether the screening programme becomes routine.

Similar initiatives are underway in the European Union, where up to 36 million people have one of 6,000 known rare diseases, about 72 per cent of which are genetic.

That includes the Screen4Care study, a €25 million project that is installing widespread newborn genetic testing across 14 countries. That programme aims to screen about 25,000 babies for 245 treatable rare diseases by the time it wraps in 2026.

The project could help level the playing field on rare disease diagnosis, given there are major screening disparities within Europe.

While Italy tests newborns for 49 conditions, that number is 22 in the Netherlands, 17 in Germany, eight in Ireland, and two in Cyprus and Romania.

Back in the UK, Health and Social Care Secretary Wes Streeting said that newborn genome screening will ensure the “future of healthcare is more predictive, more preventative, and more personalised”.