Whole genomes can now be sequenced and analyzed in about two days, which could greatly benefit newborns in a medical crisis.
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.
Software that enables collaboration between labs could make it easier for doctors to translate genome information.
DNA sequencing is increasingly being used in medicine, but doctors can have trouble making sense of the data. Now sequencing machine manufacturer Illumina has announced that it will integrate software into its desktop sequencing platform to assist physicians with that task. The most interesting aspect of the analysis tool may be its ability to share, which could be key to unlocking the real promise of genomics in medicine.
One startup, H3 Biomedicines, uses genome data to design drugs aimed at small groups of patients.
A growing effort to personalize cancer medicine tries to link existing drugs to patients based on the specific genetic and molecular anomalies of a patient’s cancer (see “Foundation Medicine: Personalizing Cancer Drugs“). But H3 Biomedicines, a startup in Cambridge, Massachusetts, wants to personalize cancer drugs from the beginning by designing drugs to target specific patient populations.
Not content with speeding up web browsing and hosting federal data, Amazon Web Services are now helping in the fight against disease. Bezos’ crew is donating a chunk of free cloud storage to the 1000 Genomes project, which aims to make it easier for scientists to search for genetic variations linked to diseases. These gene-hunters can also use Amazon’s Elastic Cloud Compute service to analyze data and discover patterns, although those functions won’t come gratis. The DNA sequences of 1,700 mostly anonymous Homo sapiens from around the world have already been logged, but the project has to upload another 1,000 samples before it meets statistical requirements. If it ever needs fresh volunteers, perhaps a free USB gene sequencer and a Prime subscription might do the trick?
Amazon stores 1,700 human genomes in the cloud originally appeared on Engadget on Sat, 31 Mar 2012 09:07:00 EDT. Please see our terms for use of feeds.
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