Researchers call for national standards for genomic data use

Better standards are needed for how discoveries in genomic medicine are found and recorded as health information technology develops, according to researchers from Harvard and the Mayo Clinic who published a viewpoint in the Journal of the American Medical Association last week.

Advances in genomic medicine, the researchers said, have lead patients and providers to be able to expect large improvements in healthcare effectiveness by 2020. However, institutions must be ready to incorporate "exponentially" larger volumes of genomic, medical, ethical and legal information into electronic health records, which already are fragmented, they added.

"Any expectation that a clinician can or should 'know' the vast permutation of emerging genomic influences on disease risk, treatment, or prognosis, as well as the interactions of these influences with drugs or other diseases or, most confusingly, their co-occurrence with other genomic or environmental factors is unrealistic," the authors said.

Three criteria are needed to link genome-scale annotation with institution knowledge bases they said, and are being worked on at Mayo Clinic's Center for Individualized Medicine. They include:

  • The emergence of a coherent, consistent and uniform naming convention for genomic variants
  • An authenticated, well-annotated, curated and freely accessible knowledge base of genomic associations, risks and warnings in machine-readable form
  • Modular, standards-based, decision-support rules that can be integrated into any electronic health records environment with associated, easily readable documentation and guidance

In an announcement touting the viewpoint, Gianrico Farrugia, M.D., director of Mayo Clinic's Center for Individualized Medicine, called the researchers' work "immensely important to realize the promise of individualized medicine."

"The center's Individualized Medicine Clinic and programs--such as Bioinformatics and Information Technology, Clinomics--are actively working to bring genomic medicine to our patients," Farrugia said.

In an interview with FierceHealthIT prior to HIMSS13, Eric Topol, professor of genomics at The Scripps Research Institute in San Diego, talked about the importance of genome testing for patients, but said we're still a long way away from such procedures becoming routine.

"There have only been tens of thousands of people in the world who have had whole genome sequencing," Topol said. "We need millions with various conditions before we know what whole human genome sequences need. We only know of our common variations right now, but most of the important stuff is a low-frequency, rare variance. We know relatively little about that."

To learn more:
- read the viewpoint (subscription required)
- read the announcement from Mayo Clinic

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