A recent article in Nature, entitled “Gather and use genetic data in healthcare” (1), points out that although the human genome project has been declared complete for more than a decade, most medical decisions are still made without the involvement of genetic information. Only a few genetic variants influence medical decisions, such as variants in the BRCA genes, strong predictors for breast cancer that might lead to preemptive mastectomy or a tight screening schedule. Some studies have indicated that the reason for the lack of use of genetic tests is that clinicians do not know that they are available. From a clinical laboratory perspective, the duty falls on laboratory professionals to inform clinicians about the availability and utility of this type of testing. Additionally, it takes a significant investment of both time and effort to develop and validate genetic tests, especially those that are laboratory developed. Therefore, laboratories need to know if clinicians will use the tests and how often they will be ordered before expending the time and capital. Insufficient communication between the 2 parties could be another reason for the lack of implementation of genetic testing in routine clinical care.
Currently, practical benefits of genetic information are assessed in large, time-consuming and costly clinical trials often performed by pharmaceutical companies. The author of the Nature article, Geoffrey Ginsburg, points out that another approach is for health systems to gather data during routine clinical care (1). The Geisinger Health System in Pennsylvania applies a learning tool to its healthcare system: every patient diagnosed with a chronic condition such as heart disease, diabetes, or depression is analyzed and systematically compared to peer-reviewed literature, and selected findings are introduced into clinical care. This learning electronic medical record (EMR) system has been shown to reduce hospital admissions and spending. The US National Human Genome Research Institute is supporting efforts to develop EMRs to capture genomic information, store it securely, and incorporate it into computer algorithms to guide physicians. Those EMRs allow the study of different groups of patients according to their genetic variants and treatments. Also, such “pragmatic” clinical trials are cheaper than traditional studies and, in an age of reduced funding, can only be regarded as a step in the right direction. An important question that still needs to be answered by the medical-genomics community is what level of evidence is required to demonstrate that assessing a genetic variant helps patients. International meetings and task forces will be a first step in establishing standards, and in the end healthcare providers must acknowledge that investment in novel and expanded medical information systems will result in improved patient care.
- Received for publication July 18, 2014.
- Accepted for publication July 25, 2014.
- © 2014 American Association for Clinical Chemistry