Whole Genome DNA Sequencing's Impact on Health Care

Advances in high throughput DNA sequencing are bringing costs down to the point where this technology can transition from basic research to a routine medical use.  However, there is a lot of discussion how this new extensive genetic information will really affect health care.

A recent argument that played out in response to an article Science Translational Medicine questioning the utility of whole genome sequencing for health care indicates the scientific concerns regarding the benefit of this technology. Others are very concerned about the ethical dimensions that arise from having detailed personal genetic information readily available.

Frankly, though, aside from some small exceptions in particular disease areas, our knowledge of genetics and gene function is still very incomplete.  At this point, routine DNA sequencing would not provide extensive predictive personal information that would have an immediate revolutionary impact on medical care or require exceptional precautions beyond standard medical patient-doctor confidentiality.  We just don't know enough to be able to interpret the information at this level.

However, there are definitely some immediate benefits that easy access to DNA sequencing will provide.  I recently posted an article that describes two new studies which demonstrate how routine DNA sequencing could practically used in medical settings to immediately improve diagnosis and treatment.

In one case described in Science Translational Medicine, researchers at Rady Children's Hospital , University of California, San Diego found that the gene sequencing data showed that 10 of 118 of families they were researching had misdiagnosed neurodevelopmental disorders.

A second study reported in the New England Journal of Medicine showed that DNA sequencing would be able to isolate and stem a hospital bacterial outbreak more quickly than standard approaches.

For more information, read the full article here.