US scientists have sequenced the entire genetic code of four gravely ill newborns and identified genetic diseases in three of them in two days, quick enough to help doctors make treatment decisions.
Doctors behind the preliminary study released on Wednesday say it demonstrates a practical use for whole genome sequencing, in which researchers analyze all 3.2 billion chemical “bases” or “letters” that make up the human genetic code.
“It is now feasible to decode an entire genome and provide interim results back to the physician in two days,” said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy medical center in Kansas City, Missouri, whose study was published in the journal Science Translational Medicine.
The study tested two software programs developed at Children’s Mercy that were used in conjunction with a high-speed gene sequencer from Illumina called HiSeq 2500, which can sequence an entire genome in about 25 hours.
The company helped pay for the study and company researchers took part in it.
Next-generation gene sequencing machines have driven down the cost of whole genome sequencing, but making practical use of the data has been more challenging, largely because of the time it takes to analyze.
As many as a third of babies admitted to a neonatal intensive care unit in the US have some form of genetic disease. Treatments are currently available for more than 500 diseases, but identifying them quickly has been a problem.
Typically, genetic testing on newborns using conventional methods takes four to six weeks, long enough that the infant has either died or been sent home.
Neil Miller, director of informatics at Children’s Mercy, said the software helps doctors identify which genes to test, and analyze the data quickly.
One of these programs, called SSAGA, allows doctors to order this test based on the child’s symptoms, without having to know in advance which genes to test for.
The software only maps genes associated with the child’s symptoms. SSAGA does this for nearly 600 diseases, but the team is expanding this to include all 3,500 known disease genes, Miller told the briefing.
The team developed a second software program called Runes that helps determine which of the suspected genes was most likely to be the cause of the child’s illness.
Even though the study did not provide cures for the babies, she said, it could give parents more information about the cause of their child’s illness.
The test is projected to cost US$13,500, but the team believes that may be worth it given the high cost of care in a neonatal intensive care unit, which runs roughly US$8,000 per night.
The next move is to broaden the test to include 100 or more babies to determine the benefits, costs and potential problems linked with the testing.
Because the Illumina machine was not available in the US, the team had to discount the time it took to ship the blood samples to Britain, where the actual sequencing was done.
However, Kingsmore said the hospital expects to receive its own HiSeq 2500 machine next month.
A humanoid robot that won a half-marathon race for robots in Beijing on Sunday ran faster than the human world record in a show of China’s technological leaps. The winner from Honor, a Chinese smartphone maker, completed the 21km race in 50 minutes and 26 seconds, said a WeChat post by the Beijing Economic-Technological Development Area, also known as Beijing E-Town, where the race began. That was faster than the human world record holder, Ugandan Jacob Kiplimo, who finished the same distance in about 57 minutes in March at the Lisbon road race. The performance by the robot marked a significant step forward
Four contenders are squaring up to succeed Antonio Guterres as secretary-general of the UN, which faces unprecedented global instability, wars and its own crushing budget crisis. Chile’s Michelle Bachelet, Argentina’s Rafael Grossi, Costa Rica’s Rebeca Grynspan and Senegal’s Macky Sall are each to face grillings by 193 member states and non-governmental organizations for three hours today and tomorrow. It is only the second time the UN has held a public question-and-answer, a format created in 2016 to boost transparency. Ultimately the five permanent members of the UN’s top body, the Security Council, hold the power, wielding vetoes over who leads the
South Korea’s air force yesterday apologized for a 2021 midair collision involving two fighter jets, a day after auditors said the pilots were taking selfies and filming during the flight and held them responsible for the accident. “We sincerely apologize to the public for the concern caused by the accident that occurred in 2021,” an air force spokesman told a news conference, adding that one of the pilots involved had been suspended from flying duties, received severe disciplinary action and has since left the military. The apology followed a report released on Wednesday by the South Korean Board of Audit and Inspection,
An earthquake registering a preliminary magnitude of 7.7 off northern Japan on Monday prompted a short-lived tsunami alert and the advisory of a higher risk of a possible mega-quake for coastal areas there. The Cabinet Office and the Japan Meteorological Agency said there was a 1% chance for a mega-quake, compared to a 0.1% chance during normal times, in the next week or so following the powerful quake near the Chishima and Japan trenches. Officials said the advisory was not a quake prediction but urged residents in 182 towns along the northeastern coasts to raise their preparedness while continuing their daily lives. Prime
RSS