Health information technology data standards get down to business: maturation within domains and the emergence of interoperability

Health information technology (HIT) standards are not new. Arguably, they date to the canonical list for causes of death in the London Bills of Mortality of 1528, which was later formalized during the middle of the 19th century into what we now recognize as the International Classifications of Diseases (ICD). Beginning in the middle of the 20th century, HIT standards evolved beyond vital statistics and began to capture data related to clinical morbidity, thereby facilitating nascent decision support, outcomes research, evidence generation, and health care quality improvement initiatives. Alas, with that expansion came a proliferation of competing and overlapping standards, giving substance to the critical aphorism that “the only nice thing about standards is that there are so many to choose from.” The emergence of large-scale computerization throughout health care in the last half century has further accelerated this divergence of standards, creating a veritable cacophony of noninteroperable medical record content, data exchange formalisms, and data silos. This special issue on data standards was prompted by a palpable maturation among HIT standards in clinical practice and biomedical research in just the last decade. There has been remarkable cooperation among HIT standards development organizations, including the new agreement to harmonize and coordinate overlapping content in Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT) and Logical Observation Identifiers Names and Codes (LOINC), and the historic cooperation between the SNOMED CT and ICD developers to create ICD11 on the semantic foundation of SNOMED CT. In parallel, there have also been unprecedented consolidation and harmonization of orthogonal standards into an emerging suite of specifications for health and biomedical observations such as the ONC Meaningful Use and the NIH Common Data Element efforts within the United States. While far from comprehensive or fully coherent, the current state of HIT standards is at a turning point, where we appear to be making more effective progress and practical applications than most would have predicted from the bad old days of just a few decades ago. The goal of this special focus issue of the JAMIA is to provide a forum for the latest evaluation of HIT standards in contexts of Meaningful Use, biomedical research, and big data. JAMIA editors solicited this focus issue with the hope that HIT standards and recent consolidation initiatives had indeed adequately matured so that the informatics community would respond with successful demonstrations for how particular standards can and will effectively support biomedical and population health applications. We thus broadly solicited scholarly contributions that would address evaluation, application, consolidation, or domain extensions of biomedical data standards within the framework of biomedical informatics, and we explicitly requested authors to provide supporting data, rigorous evaluation, or evidence of relevant consensus to support their work. We were not disappointed and enjoyed the opportunity to review many rich submissions for this highly competitive volume. We present in this issue the best of these submissions, collectively covering wide spectra of domains, applications, and approaches. The selected articles represent the full continuum of molecular, clinical, organizational, and population data, address a range of objectives from evaluation to application, and illustrate multiple approaches to HIT standards and interoperability from domain-specific to broad integration. Exemplifying the increasing coordination between multiple standards is the characterization of genetic data, as standardized by the Human Gene Nomenclature Committee with LOINC laboratory reports for genetic data. This represents the reuse of existing standards for genomic specification within an established framework for health data exchange and messaging. In work that also binds the basic science world to clinical practice, this history and success of the Human Proteome Organization Proteomics Standards Initiative details the broadly-based collaborations that have led to an increasingly mature and practical specification of proteomic findings. Similarly, poison control centers have demonstrated how they can collaborate with emergency departments by adopting their reference model for health information exchange to work within the HL7 Consolidated Clinical Document Architecture standard. This is an elegant demonstration of a community with an important clinical data exchange requirement choosing to embrace and enable an emerging mainstream mechanism, as opposed to the traditional solution of building yet another syntax to implement their reference model. On a more abstract