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.
A fire caused by a burst gas pipe yesterday spread to several homes and sent a fireball soaring into the sky outside Malaysia’s largest city, injuring more than 100 people. The towering inferno near a gas station in Putra Heights outside Kuala Lumpur was visible for kilometers and lasted for several hours. It happened during a public holiday as Muslims, who are the majority in Malaysia, celebrate the second day of Eid al-Fitr. National oil company Petronas said the fire started at one of its gas pipelines at 8:10am and the affected pipeline was later isolated. Disaster management officials said shutting the
DITCH TACTICS: Kenyan officers were on their way to rescue Haitian police stuck in a ditch suspected to have been deliberately dug by Haitian gang members A Kenyan policeman deployed in Haiti has gone missing after violent gangs attacked a group of officers on a rescue mission, a UN-backed multinational security mission said in a statement yesterday. The Kenyan officers on Tuesday were on their way to rescue Haitian police stuck in a ditch “suspected to have been deliberately dug by gangs,” the statement said, adding that “specialized teams have been deployed” to search for the missing officer. Local media outlets in Haiti reported that the officer had been killed and videos of a lifeless man clothed in Kenyan uniform were shared on social media. Gang violence has left
US Vice President J.D. Vance on Friday accused Denmark of not having done enough to protect Greenland, when he visited the strategically placed and resource-rich Danish territory coveted by US President Donald Trump. Vance made his comment during a trip to the Pituffik Space Base in northwestern Greenland, a visit viewed by Copenhagen and Nuuk as a provocation. “Our message to Denmark is very simple: You have not done a good job by the people of Greenland,” Vance told a news conference. “You have under-invested in the people of Greenland, and you have under-invested in the security architecture of this
Japan unveiled a plan on Thursday to evacuate around 120,000 residents and tourists from its southern islets near Taiwan within six days in the event of an “emergency”. The plan was put together as “the security situation surrounding our nation grows severe” and with an “emergency” in mind, the government’s crisis management office said. Exactly what that emergency might be was left unspecified in the plan but it envisages the evacuation of around 120,000 people in five Japanese islets close to Taiwan. China claims Taiwan as part of its territory and has stepped up military pressure in recent years, including
RSS