Wed, Dec 14, 2022 page6

• UK announces mass genome sequencing plan

  PIONEER RESEARCH: The genomes of 100,000 babies are to be used to detect rare genetic diseases in hopes of improving diagnosis and reatment

  • AFP, LONDON
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  UK health authorities yesterday announced a pioneering research program using the genomes of 100,000 newly born babies to detect rare genetic illnesses and speed up treatment.

  The ￡105 million (US$129 million) publicly funded “Newborn Genomes Programme” — billed as the largest study of its kind in the world — would establish whether genomic sequencing to diagnose such conditions should be rolled out across the whole nation to ensure earlier interventions.

  Some 200 conditions affecting a total of 3,000 newborn babies every year in the UK would be screened.

  “We will only be looking at conditions that are treatable and early childhood conditions,” said Rich Scott, chief medical officer for Genomics England, which was set up by the health department in 2013.

  They include biotinidase deficiency — a genetic disorder in which the body is unable to metabolize the vitamin biotin.

  David Bick, clinical adviser to the program, said the condition, which can lead to seizures, severe skin rashes and neurological problems, can be prevented by over-the-counter vitamins.

  “We don’t want to wait until they arise to treat them,” he added.

  Scott said that as well as pinpointing conditions, the program, which is due to begin next year, would give an idea of public attitudes toward the lifetime storage of genomic data.

  Potentially, the information could be used to help with an individual’s future healthcare needs “to predict to diagnose or to treat conditions, for example, if they fall sick later on,” he added.

  The researchers intend to recruit from a broad spectrum of participants from different backgrounds, and in whom there is not necessarily an identified pre-existing risk.

  “That crucially means that many of the parents we’re approaching won’t have any prior knowledge necessarily of genetics or inherited conditions in their family,” said Amanda Pichini, a genetics counselor at Genomics England.

  If the trials prove successful, researchers aim to sequence the entire genome of newborns, alongside the existing heel-prick tests already carried out for nine rare but serious diseases in newborns, including sickle cell disease and cystic fibrosis.

  British Secretary of State for Health and Social Care Steve Barclay said “the potential for genomics to revolutionize the way we deliver health care is great.”

  “If we can detect treatable illnesses earlier and ensure patients access potentially lifesaving treatment faster, we could improve people’s lives across the country, including thousands of babies, through this new pilot,” he said in a statement.

  His department highlighted the results of a public consultation, published in July last year, indicating support for the use of genome sequencing in newborns if strong safeguards are in place.

  Two other research programs were also announced: one, with ￡22 million of government funding, is to sequence the genomes of up to 25,000 participants from non-European backgrounds, who are “currently underrepresented” in research.

  It aims to better understand DNA and its “impact on health outcomes,” and to help “reduce health inequalities and level up patient outcomes across all communities,” the Department of Health and Social Care said.

  The other, with initial funding of ￡26 million, focuses on the evaluation of sequencing to improve accuracy and speed in cancer diagnosis.

  In total the government has announced ￡175 million in funding for genomics research.
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