Sick Babies Could Have Genomes Sequenced in Days
Whole genomes can now be sequenced and analyzed in about two days, which could greatly benefit newborns in a medical crisis.
Speed sequencing: Doctors at Children's Mercy Hospital in Kansas City used Illumina's HiSeq 2500 to rapidly sequence the whole genomes of seven babies.
In a study that shows how whole-genome sequencing could be used in life-or-death medical situations involving newborns, researchers at a hospital in Kansas analyzed the entire genomes of seven babies that died near birth, accurately diagnosing five of them with critical conditions within about 50 hours each—fast enough to be meaningful to their care.
Currently, gene testing in neonatal intensive care units can take a month or more, time in which the parents are anxiously awaiting results and doctors are trying to decide how aggressively to treat a child who may have no future.
Though this use of sequencing would benefit only a small group—newborns with hard-to-diagnose single-gene disorders—it is a proof of principle that whole-genome sequencing is viable for treating patients in real-time at a realistic cost, says Stephen Kingsmore, the paper's lead author and director of the Center for Pediatric Genomic Medicine at Mercy Hospital. The sequencing, conducted at Children's Mercy Hospitals and Clinics in Kansas City, Missouri, cost about $13,500 per genome.
"For those of us who have been decoding genomes, it's been phenomenally frustrating that, up until now, practical medicine has not benefited from whole-genome sequencing," Kingsmore said during a telephone news conference Tuesday. "The significance of this [study] is pretty straightforward. We can now consider whole-genome sequencing to be relevant for hospital medicine."
Technology is no longer the limiting factor in whole-genome sequencing, says Mark J. Daly, codirector of medical and population genetics at the Broad Institute in Cambridge, Massachusetts. The primary challenge now is making sense of the reams of data produced by the sequence.
"The machines are great, the technology is great. We don't quite know what to do with the information," says Daly, who is also affiliated with Massachusetts General Hospital and Harvard Medical School. "But we're learning."
The Mercy researchers addressed this issue by narrowing the field of candidate genes. They looked at the 600 or so most likely to carry crucial mutations, and developed a database to link symptoms to those disorders. They eventually intend to expand their search to all 3,500 known disease... ( more at http://www.technologyreview.com/news/429451/sick-babies-could-have-genomes-sequenced-in-days/ )
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