The United Kingdom announced on Tuesday an unprecedented research program aimed at better detecting and treating genetic diseases, within the framework of which the genome of 100,000 infants will be sequenced from the end of next year.
Endowed with public funding of 105 million pounds sterling (122 million euros), it will aim in particular to determine whether such sequencing should be deployed in the country during routine examinations in newborns, to avoid losing years in the diagnosis of rare diseases.
Around 200 conditions, which in total affect three thousand infants each year in the UK, are targeted in this study.
“
We will only be looking at childhood illnesses that are early and can be treated
,” said Rich Scott, chief medical officer at Genomics England, an organization under the UK Department of Health.
Biotinidase deficiency is one of them.
This genetic disease affects the metabolism of biotin, a vitamin belonging to the vitamin B family. But "
if you give the child this vitamin, the child will not develop any of the problems
" associated with this disease, which can cause serious neurological disorders, explained David Bick, one of the leaders of the program.
“
We want to prevent diseases
and not "
waiting for them to appear to treat them
", he explained.
In addition to the potential benefits and risks, the public's attitude to the prospect of "
storing a baby's genome data for life, so that it can be used (...) in the future for predict, diagnose or cure illnesses, if for example they get sick later
,” said Rich Scott.
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The recruitment of participants will begin at the end of 2023, for a period of two years, confirmed Rich Scott during a press conference.
According to him, this is the largest study of its kind in the world.
The researchers intend to recruit from a broad spectrum of participants of different origins, and in whom there is not necessarily any pre-existing risk identified.
“
This means that many of the parents we approach will not have prior knowledge of a genetic disease (…) in their family
,” explained Amanda Pichini, clinical lead for genetic counseling at Genomics England.
The ultimate
idea
, if the trials prove successful, would be to collect the entire genome of babies, alongside current tests using the neonatal puncture, which seek to detect nine rare but serious diseases in babies.
"
If we can detect treatable diseases earlier and connect patients to life-saving treatments sooner, we could improve the lives of people across the country," the ministry said in a statement
. Minister of Health, Steve Barclay.
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The ministry highlights the result of a public consultation, published in July 2021, highlighting support for the use of genome sequencing in newborns if strong safeguards are in place.
Two other research programs have also been announced: one, which benefits from government funding of 22 million pounds (25.6 million euros), involves sequencing the genomes of up to 25,000 original participants. non-European, who are "
currently under-represented
" in research.
It's about better understanding DNA and its "
impact on health issues
" and helping to "
reduce health inequities and improve patient care in all communities."
“, according to the Ministry of Health.
The other, with initial funding of 26 million pounds (30.2 million euros), relates to the evaluation of sequencing to improve precision and speed in the diagnosis of cancers.
In total, the government has announced funding of 175 million pounds sterling (more than 203 million euros) for genomic research.