Although not mentioned as one of the ‘Meaningful Use’ or ‘Initial Set of Standards and Certification Criteria’ for a Certified or Complete Electronic Health Record (see http://healthit.hhs.gov/blog/onc/), a new federal guideline to enable the use of personal genomic data in EHRs is being developed, according to sources within HHS. The U.S. Veterans Affairs Department (VA), the largest provider of EHRs in the U.S., are already building the Genomics Informatics System for Integrative Science (GenISIS), which will be initially used for research studies, holding patients’ genomic data behind the VA’s firewall. There has been concern about this potentially complex and insecure domain contained in the EHR among healthcare practitioners, some of whom have argued that we will have to wait for a new generation of physicians to use such technology (e.g., see http://www.nature.com/tpj/journal/v9/n2/full/tpj200812a.html).
However, the National Institutes of Health have recently funded several large projects using ARRA funds for development, deployment and testing of genome-enabled EHRs in hospital systems. For example, William Knaus and Wendy Cohn at the University of Virginia School of Medicine received $2 million to create a Genome Enabled Medical Record. GenE EMR aims to “enable real-time clinical decision support for clinicians and their patients in user-friendly formats.” The system they are developing will collect family history and personal disease-risk information from personal genomics, and connect this information to clinical information, treatment records and patient outcomes. The system will also display recommendations — on the analytic and clinical validity, clinical utility, as well as ethical, legal, and societal implications — for genomic and personalized medicine products designed to help treat and prevent cancer. The Vanderbilt Electronic Systems for Pharmacogenomic Assessment, or VESPA, project received the most ARRA funds, more than $5 million, to use de-identified data from EHRs and genetic information from Vanderbilt University’s DNA repository to investigate the genetic basis of drug response.
Several hospital systems already collect personal genomic data from patients providing informed consent, and use these data in clinical decision-making. It is expected that EHRs containing genomic, proteomic and related information will be in wider use within 3-5 years. New metabolomic studies show that certain biomarkers for cancer can be found early in the blood and urine, avoiding the need for interventional biopsy. Similarly, patients that have high risk for common, complex diseases such as Coronary Artery Disease and Major Depressive Disorder can be identified by genomic analysis before symptoms emerge. Physicians that do not use these new tools may be at risk for not providing coherent care, especially if software such as a Genome-Enabled EHR is an integral part of their clinical workflow. A recent study showed that 15% of physicians in the U.S. have already been provided with personal genomic information by their patients, obtained through Direct-To-Consumer (DTC) gene testing companies such as 23andME and Navigenics, and that 75% of these physicians have used this information for personalization of medical care. This new development raises continuing issues about the security of patient data within the hospital and elsewhere, as well as concern that patients may over-react to what may be less than certain prediction of disease risk.