The UK Commits $130 Million to Sequence 100,000 Newborns to Speed Diagnosis of Rare Diseases

The United Kingdom has committed $130 million (£105 million) to kickstart a world-leading research study, led by Genomics England in partnership with the National Health Service, to explore the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies.

Photo: U.K Health and Social Care Secretary Steve Barclay

The study will sequence the genomes of 100,000 babies over the course of the study – which will begin in 2023 – and will gather evidence to consider whether this could be rolled out across the country.

The commitment is part of new three-year, $217 million (£175 million) plan to evaluate and roll out new technologies across the health and care system as the government tries to bolster the U.K.’s position as a life sciences powerhouse.

In addition to the genetic testing of newborns, the funding will be used to support an innovative cancer program, led by Genomics England in partnership with the NHS, to evaluate cutting-edge genomic sequencing technology to improve the accuracy and speed of diagnosis for cancer patients and use artificial intelligence to analyze a person’s DNA, alongside other information.

Another program, led by Genomics England, will sequence the genomes of up to 25,000 research participants of non-European ancestry, who are currently under-represented in genomic research, to improve our understanding of DNA and its impact on health outcomes. This will help reduce health inequalities and level up patient outcomes across all communities.

Finally, the balance of the funding will be used for a U.K.-wide initiative on functional genomics, an area of genomic research which uses molecular tools such as gene editing to improve understanding of how genetic variation leads to disease and support smarter diagnostics and the discovery of new treatments.

“Thousands of children are born in the U.K. every year with a treatable rare condition that could be detected using genome sequencing. Most rare disorders are genetic and children under the age of 5 are disproportionately affected. While these conditions are often difficult to identify, genomic testing has already become the main way of providing a diagnosis,” U.K. Health and Social Care Secretary Steve Barclay said. “The current NHS heel prick blood test carried out as part of newborn screening is used to detect nine rare but serious health conditions in babies, including sickle cell disease and cystic fibrosis. However, screening a baby’s entire genome – all of their DNA – alongside the current heel prick could detect hundreds more rare, treatable diseases in their first years of life.”

Author: Rare Daily Staff