Advancing Personalized Health Care through Health Information Technology: An Update from the American Health Information Community’s Personalized Health Care Workgroup

J Am Med Inform Assoc. 2008;15:391–396. DOI 10.1197/jamia.M2718. er@ by gest on Jauary 6, 2016 djouals.org/ Setting Policy for Standards Development: The Role of the American Health Information Community’s Personalized Health Care Workgroup The inclusion of genetic/genomic information in electronic health records should inform the determination of disease risk, appropriate drug dosing to avoid adverse events, and Affiliations of the authors: Partners HealthCare (JG), Boston, MA; American Academy of Family Physicians (DEH), Leawood, KS; Personalized Health Care Initiative, United States Department of Health and Human Services (GD), Washington, DC; Personalized Health Care Workgroup, American Health Information Community, United States Department of Health and Human Services (KMB), Washington, DC. *Carolyn Clancy, MD, Beryl Crossley, PhD, Paul Cusenza, MBA, Andrea Ferreira-Gonzalez, PhD, Rebecca Fisher, MLIS, Felix W. Frueh, PhD, Emory A. Fry, MD, Alan E. Guttmacher, PhD, Kathy Hudson, PhD, Betsy L. Humphreys, MLS, Charles D. Kennedy, MD, MBA, Joel Kupersmith, MD, Stephen Matteson, BS, Deven McGraw, JD, MPH, Amy L. McGuire, JD, PhD, Mark A. Rothstein, JD, Steven M. Teutsch, MD, MPH, Janet A. Warrington, PhD, Andrew M. Wiesenthal, MD, SM, Dennis P. Williams, PhD, MA, Marc S. Williams, MD. The authors thank Mike Cowan, MD, Charles A. Goldthwaite, Jr., PhD, and Lauren Kim for assistance with the preparation of this article. Correspondence: Dr. John Glaser, Partners HealthCare, 800 Boylston Street, Suite 1150, Boston, MA 02199; e-mail: jglas partners.org . Received for review: 01/09/08; accepted for publication: 04/10/08 selection of effective treatment. As clinical applications of this information become more prevalent, genomic technologies will increasingly impact health information technology (IT) platforms, particularly electronic health records (EHR) developed within the health care system and personal health records (PHR) controlled by individuals. Both types of records may include elements of family health history and an individual’s genetic/genomic makeup. Innovative strategies are needed to manage the diverse genetic/genomic data required to realize the benefits of individualized approaches to health care. The application of health IT to support the effective integration of genetic/genomic information in routine clinical care will require broad access, appropriate privacy and security measures, and data storage and transmission capabilities to connect the patient, laboratory, clinician, and researcher. As health care providers and consumers use EHRs and PHRs to support health care management and decision-making, there will be an increasing need for standards, best practices, and accepted protocols for efficient test ordering, performance, reporting, and interpretation of genetic information. Realizing the potential of personalized medicine in clinical practice will require multilayered policy interventions to overcome systemic barriers and challenges. To provide Federal leadership for this transformation, the U.S. Department of Health and Human Services has recently undertaken its Personalized Health Care Initiative. As part of this Initiative, the American Health Information Community’s (AHIC) Personalized Health Care (PHC) Workgroup is work392 Glaser et al., Advancing Personalized Health Care by gest on Jauary 6, 2016 ht://jam ia.oxfournals.org/ D ow nladed from ing to inform policy on the development of interoperable standards, a stepping stone to the deployment of the processes, databases, and methods that will underpin future health care practices. The AHIC was established in 2005 to accelerate the adoption of health IT through standards development and improved networking capabilities. The Office of the National Coordinator for Health IT provides support for the AHIC as well as coordination of U.S. Department of Health and Human Services activities for the development and nationwide implementation of an interoperable health IT infrastructure. In acknowledgement of the already-rapid pace of adoption of genetic/genomic tests and individualized approaches to health care, the PHC Workgroup of AHIC was established in 2006. This Workgroup is charged with fostering a broad, community-based approach to facilitate the incorporation of interoperable, clinically useful genetic/genomic information and analytical tools into EHRs to support clinical decisionmaking for the clinician and consumer. To this end, the PHC Workgroup is assessing the needs of health IT developers, implementers, and users. The goal is to promote development of technical platforms that will reduce duplicative efforts, enable interoperable local applications, and provide an economic incentive for vendors to include genetic/ genomic and family health history data in their health IT systems. The PHC Workgroup’s vision is a consumer-centric health system in which diagnostic, treatment, and management plans are customized based on a variety of factors, including culture, environment, preferences, personal and family health histories, and the individual’s unique genetic/ genomic makeup. This vision embraces the notion that consumers who have detailed information about their individualized options will participate more actively in the management of their health care practices. Underpinning the vision is the confluence of two powerful forces, the development of health IT and rapid advances in the basic understanding of the relationships between health, disease, genetics/genomics, and treatment options. Knowledge of an individual’s genetic/genomic information may provide an exceptionally powerful tool to assist with disease prediction, diagnostic accuracy, targeted treatments, medication dosing, and health management. However, the rapid development of commercially available genetic tests and other genomic technologies will almost certainly outpace both the availability of effective interventions for many conditions identified and the health care professional’s acquisition of sufficient knowledge to guide their appropriate use. The PHC Workgroup includes representation from a broad array of communities—consumers, clinicians, academic and Federal research institutions, Federal and private health care providers, diagnostics developers, pharmaceutical companies, and health care payers—that recognize that an individualized approach to health care can improve quality and outcomes. Achieving this personalized approach will require basic research, evidence development, evaluation of prevention and intervention protocols, and health maintenance activities. Workgroup members recognize that the transition toward a personalized approach to health care will require significant changes in health care delivery but believe that this enterprise offers tremendous potential to improve care at all levels, especially at the interface between the health care provider and the patient. Advancing Health IT Standardization and Adoption The AHIC has developed an iterative process to provide incentives to develop and adopt a diverse range of health IT products throughout the health care sector. This process provides context for detailed policy discussions, standards harmonization, certification considerations, and architecture specifications necessary to advance the national health IT agenda. Through the AHIC, workgroups have been convened to assess specific health information needs in seven areas: (1) consumer empowerment; (2) population health and clinical care connections; (3) chronic care; (4) electronic health records; (5) confidentiality, privacy, and security; (6) quality; and (7) personalized health care. Rather than developing a software system specific to the AHIC, the workgroups develop recommendations to address their broad and specific charges. This approach engages the Office of the National Coordinator for Health IT to develop use cases based on these recommendations that outline the needs of multiple stakeholders (e.g., patients, organizations, and systems) and describe the flow of information and the requisite information systems necessary to connect them at multiple levels. To date, 13 use cases have been published, each focusing on the exchange of information between organizations and systems rather than the internal activities of a particular organization or system, or the development of a specific software system. The use cases strive to provide sufficient detail and context to support detailed policy discussions, standards harmonization, certification considerations, and architecture specifications. Candidate workflows within each use case describe how various perspectives interact and exchange information within the context of an overall workflow. Based on the use cases, the Health Information Technology Standards Panel (HITSP) then determines which standards have been developed for the requirements identified in the use cases. The HITSP is a cooperative public-private partnership whose mission is to achieve a widely accepted and useful set of standards to enable interoperability among different information systems, software applications, and networks. Established in 2005 based on a response to a Request for Proposals issued by the U.S. Department of Health and Human Services, HITSP is a standards organization accredited by the American National Standards Institute. The HITSP evaluates existing standards that are in use and works to harmonize them or identifies gaps that require additional standards development. Following these use-case development and standards harmonization processes, the private, nonprofit Certification Commission for Healthcare Information Technology (CCHIT) can then reference these priorities and standards as it develops specific compliance criteria and inspection processes for health IT systems. Founded in July 2004 in response to the Framework for Strategic Action released by the National Coordinator for Health IT, the Commission represents a collaboration of three health IT associations: the American Health Information Management Association, the Health Information and Management Systems Society, and the National Alliance for Health Information Technology. The Journal of the American Medical Informatics Association Volume 15 Number 4 July / August 2008 393 by gest on Jauary 6, 2016 ht://jam ia.oxfournals.org/ D ow nladed from Commission rigorously tests software from applicant companies to establish that their systems can support and perform the required functions, exchange information with other systems, and maintain data confidentiality and security. Certification signals that an electronic health record system has met baseline requirements for application in clinical care, thereby accelerating adoption of compliant products by providers. As such, the certification process is an essential component of the broader strategy that includes AHIC, HITSP, and the development of a Nationwide Health Information Network architecture. In drafting these use cases, the Workgroup recognizes that many organizations (e.g., Health Level Seven (HL7), Systematized Nomenclature of Medicine (SNOMED), Clinical Data Interchange Standards Consortium (CDISC) are currently developing standards and nomenclatures (e.g., Logical Observation Identifiers Names and Codes (LOINC), EHR-Lab Interoperability and Connectivity Specification (ELINCS) to accommodate the electronic handling of genetic/genomic information. These efforts have underscored the importance of bridging the clinical and research enterprises by fostering productive collaborations between Federal agencies, academic institutions, and standards development organizations. Although much work has been done to advance these genetic/genomic standards, the field continues to evolve in response to new technologies. Use cases were designed to accommodate current tools, with the understanding that novel approaches will adjust the workflows. The Workgroup therefore considers these use cases to be works in progress; as more genetic/genomic tools become integrated into primary care, discussions will expand to address the temporal and logistical constraints that these tools will impose. Priorities Identified by the PHC Workgroup The PHC Workgroup holds monthly discussions informed by testimony from experts in standards development, genetics/genomics, laboratory testing procedures and systems, privacy concerns, tools and standards for family health history, and commercial and Federal EHR systems. A complete timeline of PHC activities and deliverables is provided in Table 1, and links to all PHC documents cited in this manuscript are provided in the Appendix (available as an online supplement at www.jamia.org). In March 2007, the Workgroup outlined priorities for investigation and developed a vision of PHC from four user perspectives: the consumer, the clinician, the researcher, and the health plan/payer. Following this visioning session, the group identified the four priority areas of genetic/genomic tests; family health history; clinical decision support; and confidentiality, privacy, and security issues. The vision summary and priorities documents (available at http:// www.hhs.gov/healthit/ahic/healthcare/phc_archive.html) were presented to the AHIC on April 24, 2007, and recommendations related to genetic/genomic tests and family health history were accepted by the AHIC on July 31, 2007. These recommendations included: • Developing a use case for PHC that describes the clinical use of common genetic/genomic tests in conjunction with family health history • Establishing a minimum core dataset for family health history • Engaging with the U.S. Department of Health and Human Services and other Federal health care providers to support research activities to develop an improved knowledgebase of genetic information. Efforts to date in these priority areas are summarized in the following sections. Each area features technical and research issues that require ongoing discussions and input, and updates on these efforts will be communicated and submitted in a timely fashion. Genetic/Genomic Tests To incorporate clinically useful genetic/genomic information into the EHR, the Workgroup recommended developing a PHC use case that describes the process of performing a genetic/genomic test using current standards of care. This process can be segmented into three distinct phases: (1) the preanalytic phase, which encompasses such events as determining which genetic/genomic test, if any, is appropriate to answer the clinical question being asked, collecting Table 1 y Timeline of AHIC PHC Workgroup Activities and Deliverables (October 2006 to March 2008) Date Activity/Deliverable October 2006 PHC Workgroup formed March 2007 Visioning session and priority areas (Genetic/ Genomic Tests; Family Health History; Confidentiality, Privacy, and Security; and Clinical Decision Support) identified for