Share alike : Nature News & Comment

abernard102@gmail.com 2012-10-13

Summary:

"Many newborn babies admitted to intensive care have genetic disorders. The symptoms can be obvious — uncontrollable seizures, spontaneously peeling skin, abnormal heartbeats — but the cause often remains unknown. That uncertainty has painful ripples: physicians have little knowledge about how to guide treatment and parents are left unsure whether to have further children. Genome sequencing can help. Using the fastest available sequencing instrument and software designed to guide clinicians through analysis, a team at the Children's Mercy Hospital in Kansas City, Missouri, reported in Science Translational Medicine last week that they had used sequencing in newborns to sift for rare genetic mutations that might cause disease (C. J. Saunders et al. Sci. Transl. Med. 4, 154ra135; 2012). The results were impressive. For three of the four infants, probable culprits were identified... With so many sequencing projects under way, clinicians are always eager to know whether a variant has been observed in patients at other institutions. Analysis tools are available to help (see page 157). Yet there is currently no quick, reliable or convenient way to spread this information. Data sharing through scientific publication has fuelled an impressive collection of databases that reveal frequencies of common variants. When variants or genes have been associated with disease, those results are also deposited in databases. ClinVar, a database from the US National Institutes of Health (NIH), for instance, gathers health-related genetic variations from the literature. And the NIH has set money aside to create a separate resource for clinically relevant genetic variants: essentially a curated database of variants for which some sort of clinical action is advised.  These are valuable efforts, but are inherently limited...  This January, an advisory group to the UK Department of Health said that the country should create a centralized facility to store genomic data to improve treatments and diagnoses. However, in the United States, where many sequencing projects are based, regulations about sharing patient data will make setting up a centralized repository more difficult.  One option would be to give patients their own sequenced genome data, letting them deposit it where they choose. Already, 23andMe, a consumer-genetics company in Mountain View, California, has used data and DNA supplied by its customers to discover (and, controversially, to patent) disease-associated variants... Another option is for medical-research institutions to agree on ways to share information with each other... There are other problems..."

Link:

http://www.nature.com/news/share-alike-1.11572

From feeds:

Open Access Tracking Project (OATP) » abernard102@gmail.com

Tags:

oa.biology oa.new oa.data oa.policies oa.comment oa.government oa.usa oa.nih oa.open_science oa.crowd oa.uk oa.patents oa.lay oa.pharma oa.biomedicine oa.23andme

Date tagged:

10/13/2012, 08:11

Date published:

10/13/2012, 04:11