The era of defining the human patient as a data repository continues; this recharacterization represents the convergence of massive molecular (including genetic) data with digital information capacities (electronic medical records), creating an era of “precision medicine.” At the request of the National Institutes of Health, the National Academy of Sciences was tasked to develop an entirely new view of human disease, less informed by a collection of symptoms and a general description of malfunction and centered instead on a molecular-driven profile of a patient. They have issued a report, Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease that proposes a new disease classification system that is informed by the collection of genetic, proteomic, microbial and other biological states – the end result is to more sharply define disease states and allow for treatment that is more personalized, with a higher likelihood of success. As part of this effort, the report calls for the use of existing patient data to build an information commons which provides the intellectual foundation for reunderstanding human medical processes. But how to get there?
The evolving imperative is to integrate patient care and data collection into a giant information commons, where every patient, if you will, is part of the ongoing “clinical trial” that becomes the modern medical enterprise. Of course, actual clinical trials, in which an individual agrees to become a research subject for scientific/medical investigation, are a well-established pillar of medical science and they are conducted using norms of consent, transparency, and privacy; an overview here). What does this mean for the law? The report does note a need to "initiate a process within appropriate federal agencies to assess the privacy issues." Existing legal privacy protections are several (HIPAA, regarding the privacy of medical records, GINA, regarding does provide some assistance as Title I addresses unfair uses of genetic information by health insurers regarding premiums, etc.).The upshot is that rewriting human disease in molecular language is intellectually appealing, but the conversion of patients into information subjects has obvious privacy implications. Treatment consequences include a kind of adverse typecasting with consequences for receiving medical care (or insurance for). The proposed federal initiative is now new. An example of a private effort to integrate patient records into a genetics research program is underway by Kaiser Permanente in California, in which insured patients can consent to having their deidentified patient records entered into their genetic research program. The program provides formal privacy guarantees, and has its own internal Institutional Review Board (IRB) which reviews protocols. As the era of molecular medicine redefines the patient as a data repository, the law must supply the requisite human norms of privacy, risk, and choice to accompany such a transformation.