Much work remains to be done before genetic content can effectively be incorporated into electronic health records, research from the University of Wisconsin concludes.
In a paper published online today in the Journal of the American Medical Informatics Association, the researchers explore the ethical, logistical and technological issues needing attention.
"The rapid pace of genetic research necessitates urgent focus on integration solutions that minimize risk while maximizing benefit," the authors write, also while stressing the need to allow patients to make their own decisions about the treatment of their information.
Policies from cancer genomic studies and a recent guideline from the National Heart, Lung and Blood Institute state that if test results are to be returned to a patient, they must be analytically and clinically valid, and have established benefit for patients. Informed consent practices would allow the patient to decide whether to share that information with physicians and relatives, as well as to include it into an EHR.
The U.S. Food and Drug Administration and the Centers for Disease Control and Prevention, however, have warned that genetic tests marketed directly to consumers may fall far short of these requirements.
The authors point to the need for central oversight--perhaps a government body--to ensure the validity and usefulness of tests being offered. Tests without clear utility can do more harm than good, they point out--including creating patient anxiety and calls for providers to run unnecessary tests.
The sheer storage requirements are huge; the authors liken them to image archiving, which includes structured and unstructured data. Especially in whole genome sequencing, some data might not be useful now, but could be in the future, calling for the need to store it all, but perhaps make only the useful part available in the EHR. Ensuring security and privacy--as well as providing workable systems to access patient consent preferences--are other essential concerns.
Technology can mitigate some of these concerns, the researchers say, including strong access management.
Among areas requiring further work, they cite the need for standardization of genetic content--including raw data and ontology--to allow accurate and efficient interpretation of genetic data from EHRs and the need to develop computerized clinical decision support tools for caregivers, who may not have a strong understanding of genetics. Storage requires compression and archiving methods uniquely suited to the size, structure and security requirements of these data, the authors say.
Dixie Baker, a member of the Health Information Technology Standards Committee, recently pointed out the strong protections required of genetic information, though so far those results are treated like any other tests within EHRs.
Last week, healthcare organizations from 41 countries announced an alliance to work together on a framework for sharing genomic data worldwide. That effort requires creating common legal, ethical and technical standards.
To learn more:
- read the research