United Kingdom authorities announced that starting in 2023 a research program will begin that will analyze the genome of 100,000 babies to detect rare genetic diseases and thus accelerate their treatment.
This is the "Newborn Genome Programme", which will be funded with 105 million pounds ($129 million) of public funds. It was billed as the largest study of its kind in the world: it will monitor 200 diseases in a total of 3,000 newborns each year in the country.
As reported by the AFP agency , the study will establish whether genomic sequencing to diagnose such conditions should be implemented throughout the country to ensure early interventions. "We will only examine conditions that are treatable and (observable) in early childhood," explained Rich Scott, chief medical officer of Genomics England, a body created by the British Ministry of Health in 2013.
These include, for example, biotinidase deficiency, a genetic disease in which the body is unable to metabolize the vitamin biotin. David Bick, a clinical advisor on the program, explained that this disorder, which can cause seizures, severe skin rashes and neurological problems, can be prevented with over-the-counter vitamins.
According to Scott, in addition to highlighting diseases, the program will give an idea of public opinion’s position on the lifelong storage of genomic data. This information could potentially be used to "predict, diagnose or treat conditions" when they appear, he predicted.
Researchers seek to recruit participants from a wide spectrum and different backgrounds, without necessarily presenting a pre-existing risk. "This means that many parents will not have any prior knowledge of genetics or inherited diseases in their family," explained Amanda Pichini, a consultant at Genomics England.
If the trials are successful, researchers aim to sequence the babies’ entire genome, alongside existing heel prick tests for nine rare and serious diseases in newborns, including sickle cell disease and cystic fibrosis. .
"The potential for genomics to revolutionize the way we deliver healthcare is enormous," UK Health Secretary Steve Barclay said in a statement.
His department highlighted the results of a public consultation, released in July 2021, indicating that there was support for the use of genome sequencing as long as strong safeguards were in place to protect the information.
In parallel, two other research programs were announced: one to sequence the genome of up to 25,000 participants of non-European origin who are "currently underrepresented" in research.
The aim is to better understand DNA and its "impact" on health, help "reduce health inequalities and improve patient outcomes across communities", according to the Department of Health and Social Care.
The other focuses on the evaluation of sequencing to improve the accuracy and speed of cancer diagnosis.
In total, the government has announced £175 million ($214.5 million) in funding for genomics research.
