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Challenges of bringing whole genome sequencing to the clinic

Brendan Maher has a fantastic story out this morning in Nature News about using whole genome sequencing in the clinic. The article reviews some of the technique's successes (mostly in finding the causes of rare, inherited diseases or cancers) while pointing out hurdles that still need to be overcome:

...unlike the results of most medical tests, a genome sequence provides a vast amount of difficult-to-interpret data, not all of which will be necessary for diagnosing or treating the patient's condition and which could provide unwanted clues to future health risks. The few success stories published so far also suggest that wringing information from the human genome and counselling patients and their families adequately may be too big a burden for medical systems that are already stretched to their limits. "You can't immediately jump from those few profound but limited stories and think that you can reduce this to practice for clinical care," says Eric Green, director of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland.

There are also regulatory issues that need to be ironed out:

Moving whole-genome sequencing from research to clinic is beset with challenges. Unlike in research, DNA sequencing that is intended to inform a diagnosis must be done in accredited laboratories, such as those used by Illumina. The institutional review boards that oversee research in humans have not reached a consensus on whether approval is needed for clinical genome sequencing; and the US Food and Drug Administration is yet to work out how to regulate the coming wave of clinical sequencing.

Previously: Researchers analyze family's whole genome sequences, predict members' inherited health risks, Economic impact of human genome sequencing, Stanford researchers work on 'molecular autopsies' and Whole genome sequencing data vaults into clinic

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