Mayo and Harvard Urge Introduction of National Standards for Genomic Medical Data

There is a need for comprehensive and consistent data reporting that will improve health information technologies for better patient care.

Christopher G. Chute, M.D., of Mayo Clinic and Isaac Kohane, M.D., of Harvard Medical School summarize the health information technology landscape and examine how it can contribute to or hamper the promise of genomic medicine. Their overview appears in today's issue of the Journal of the American Medical Association.

About Genetic Testing
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques

"We need more standards in how these discoveries are recorded and collated," says Dr. Chute. "This fosters comparable and consistent data that improves the application of health information technology for better patient care."

Thanks to advances in genomic medicine, patients and providers can expect significant improvements in health care effectiveness by 2020, the authors write. But heath care institutions must incorporate exponentially larger volumes of genomic, medical, ethical and legal information into already fragmented electronic health records.

"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 write.

The authors cite three criteria needed to link genome-scale annotation with health care institution knowledge bases:

Epigenetics
In the recent years ‘epigenetics’ represents inheritable changes in gene expression that do not include DNA alterations.

* 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; and

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Importance of Health Screening Tests
Health screening, along with a healthy diet and exercise, is necessary for good health and a higher quality of life.

* modular, standards-based, decision-support rules that can be integrated into any electronic health records environment with associated, easily readable documentation and guidance," the authors write.

At Mayo Clinic, the Center for Individualized Medicine is working with Dr. Chute and others to integrate genomic medicine into every level of care for all Mayo Clinic patients.

"Dr. Chute's work, in collaboration with sister medical centers, such as Harvard Medical School and Dr. Kohane, is immensely important to realize the promise of individualized medicine," says Gianrico Farrugia, M.D., director of Mayo Clinic's Center for 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."