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Levels of Evidence

As more and more genetic variants are linked to disease risk, Geoffrey Ginsburg, director of genomic medicine at Duke University, argues in Nature that "there needs to be an efficient way to evaluate whether genetic information leads to better health care."

One way to determine whether knowing certain genetic variants can lead to better clinical care is to gather evidence during that care, Ginsburg says. "In other words," he says, "health systems should embrace research."

He notes that some systems in the US such as the Geisinger Health System in Pennsylvania are staring to do this. At the same time, some hospitals like Children's Mercy Hospital in Missouri, Baylor College of Medicine in Texas and the Medical College of Wisconsin are turning to sequencing for some diagnoses.

"As more genetic data are incorporated into [electronic medical records], health systems can carry out 'pragmatic clinical trials' — those that randomize groups of clinicians to study an intervention (in this case treatments guided by genetic information) compared with usual care," he adds.

But, Ginsburg says, the medical genomics community needs to figure out what level of evidence should be required to say that knowing a certain variant helps the patient. "For example, a variant that may require a change in diet might need less evidence than one that may require an irreversible surgical procedure," he says. "The clinical community should commit to developing ways to evaluate genetic variants as 'actionable', including understanding how results from one patient population might apply to another with differing genetic backgrounds or health practices."