Health information technology is providing patients, clinicians, and researchers with access to data that will enable novel approaches to science and medicine. Digital health records (DHRs)—including electronic health records (EHRs) and electronic medical records (EMRs)—are capable of being shared across different health care settings for the examination of possible trends and long-term changes in a patient’s disease progression or status as well as the effectiveness of the health care delivery system. While the prevalence of paper records remains high, there has been a rapid trend toward the digitalization of medical and health records in many countries (Coorevits et al., 2013). In its 2001 report, Crossing the Quality Chasm: A New Health System for the 21st Century, the Institute of Medicine’s (IOM’s) Committee on Quality of Health Care in America identified the need for increased use of information technology as central to improving the nation’s health care system (IOM, 2001). Specifically, the committee recommended a “renewed national commitment to building an information infrastructure to support health care delivery, consumer health, quality measurement and improvement, public accountability, clinical and health services research, and clinical education” (IOM, 2011, p. 17). Recognizing the importance of information and communication technology for health and well-being, the
1The planning committee’s role was limited to planning the workshop, and the workshop summary has been prepared by the workshop rapporteurs as a factual summary of what occurred at the workshop. Statements, recommendations, and opinions expressed are those of individual presenters and participants, and are not necessarily endorsed or verified by the Institute of Medicine, and they should not be construed as reflecting any group consensus.
European Commission adopted the eHealth Action Plan (2004−2011 and 2012−2020) to encourage more patient-centered services by Member States through the use of devices and technologies (European Commission, 2004, 2012). The plans included recommendations for integrated health information networks, electronic patient health cards, electronic prescriptions and referrals, among others.
DHRs are widely viewed as essential for improving health, reducing medical errors, and lowering costs (Hillestad et al., 2005). In addition, many participants noted that DHRs hold great value for the medical research enterprise. The National Institutes of Health promotes research needed to “guide design, use, and evaluation of an ever-expanding array of health information technologies,” with the Precision Medicine Initiative2 being one example of an opportunity to employ DHRs to creatively use health information (Collins, 2015). Additionally, a presidential commission in 2010 advocated investment in infrastructure to enable “the robust exchange of health information” as a means of improving public health and medical research (President’s Council of Advisors on Science and Technology, 2010, p. 3). As part of the American Recovery and Reinvestment Act of 2009, the Health Information Technology for Economic and Clinical Health (HITECH) Act provided funds to promote a national health information network facilitated through the use of interoperable DHR technologies. Similarly, the European Commission released a recommendation on cross-border interoperability of EHRs by Member States to encourage the secure exchange of patient data throughout Europe (European Commission, 2008). For example, the European Patients–Smart Open Services (epSOS)3 strives to develop “a practical eHealth framework and information and communications technology (ICT) infrastructure that enables secure access to patient health information among different European healthcare systems.” In 2011, the Forum on Drug Discovery, Development, and Translation held a workshop titled “Envisioning a Transformed Clinical Trials Enterprise in the United States: Establishing an Agenda for 2020,” which called for the increased use of DHRs as a means of harnessing scientific evidence for improved medical decision making (IOM, 2012).
While the potential clinical and research opportunities using DHRs are vast, there are several challenges to consider. First, the quality of the
data, with regard to their “correctness, completeness, and accuracy,” might be hindered, depending on how the data are entered into the database and by whom (Coorevits et al., 2013). This, in turn, might influence the interoperability across systems to effectively communicate with one another, which can be important for large, multisite research studies. In addition, there are a number of issues related to the privacy and confidentiality of patient data and the security of DHR databases (Coorevits et al., 2013; Ozair et al., 2015). Given that these databases have the potential to house the complete medical and health information of individuals, the potential misuse, de-identification, or breaching of these data may have serious implications.
On July 20, 2015, the National Academies of Sciences, Engineering, and Medicine’s Forum on Neuroscience and Nervous System Disorders held a public session at the 2015 Alzheimer’s Association International Conference in Washington, DC, to assess the impact of DHRs on Alzheimer’s disease (AD) research. “AD is the most common cause of dementia in older adults” (NIA, 2015a). An estimated 46.8 million people worldwide are currently living with dementia, and the prevalence is expected to double every year for the next 20 years (Prince et al., 2015). Given the few therapies currently available to treat the symptoms of AD, compared to other central nervous system disorders, this session explored how DHRs may be used to help improve clinical trial design and methodology for AD research.
The session brought together an international group of experts in translational, epidemiological, and health services research along with an ethicist and representative of a big data analytics company. While there are a number of potential uses of DHRs, these speakers, along with other session participants, discussed some of the currently available DHR databases that are being mined to better understand the progression of AD and design more effective clinical trials. Session moderator Daniel Burch, vice president and global therapeutic area head for neuroscience at Pharmaceutical Product Development, charged participants to explore the future needs and challenges presented by the diversity and size of these databases, as well as ethical, societal, and legal concerns raised by the sharing of personal health data (see Box 1-1).
Statement of Task
An ad hoc committee will plan a public session in workshop format at the 2015 Alzheimer’s Association International Conference on Alzheimer’s disease (AD). This workshop will explore how digital health records can be applied to support research on AD. Specifically, presentations and discussions will be designed to help participants
- examine current and future applications of digital health records and their impact on clinical trial design;
- consider scientific opportunities and challenges associated with applying digital health records to inform AD research design and methodologies;
- discuss infrastructure needs and lessons learned from other medical records-linkage systems; and
- explore what kinds of ethical, societal, and legal issues should be considered in applying digital health records on AD research.
The committee will develop the agenda for the workshop session, select and invite speakers and discussants, and moderate the discussions. A summary based on the presentations and discussions held during the workshop will be prepared by a designated rapporteur in accordance with institutional guidelines.
This report summarizes presentations from speakers and discussions among session participants. In Chapter 2, three case studies are presented as examples of how DHRs are being used to better understand the natural history of AD and advance therapy. This chapter also describes existing DHR infrastructure and those in development. Chapter 3 provides an overview of the ethical, legal, and societal issues related to the use of DHRs. Chapter 4 focuses on the future of DHR use in medical research, considering not only the potential value but the barriers as well.
To date, only five medications have received Food and Drug Administration approval to treat symptoms of AD, despite substantial investment by the pharmaceutical industry (Alzheimer’s Association, 2015). While additional symptomatic therapies will be necessary for all stages of disease, several participants expressed the urgent need for disease modifying and secondary prevention therapies. In light of a string of failed clinical trials for AD drugs, some companies have shifted resources from central nervous system diseases to other disease areas with a more promising return on investment. Many factors have likely contributed to the lackluster performance of AD drugs in development (Cummings et al., 2014), and one emerging consensus is that effective therapies of AD will require targeting early-stage disease (Sperling et al., 2011).
Conducting trials in the preclinical stages of disease poses unique challenges with regard to identifying and enrolling sufficient numbers of appropriate subjects and assessing treatment efficacy in the absence of symptoms. Developing the tools and resources needed to address these challenges will require a more detailed understanding of the natural history, pathobiology, and heterogeneity of the disease, which will be achieved through the analysis of large amounts of data from a broad spectrum of the population, said several participants.
DHRs offer a potentially powerful, enormous, and rich source of data for such studies. According to Simon Lovestone, professor of translational neuroscience at Oxford University, reusing data collected from existing population cohort studies and clinical databases, combined with data from a variety of other sources (discussed further in Chapter 2), can provide a means to understand the progression of disease from its earliest stages among real-world participants, rather than the more rarified group of individuals who volunteer for clinical studies.
The Value of DHRs
- One emerging consensus is that effective therapies for AD will require targeting early-stage disease, but this requires a better
understanding of the natural history, pathobiology, and heterogeneity of the disease. DHRs provide a rich source of these types of data from real-world participants, and can be married with other types of data to more fully understand disease progression (Lovestone, Rocca).
- By linking data from population observations, investigators can extract meaningful information that might be used to inform clinical and basic science research (Bynum, Rocca).
Examples of Potential Infrastructure Needs and Challenges
- DHRs include multiple types of data (including coded and uncoded or narrative or contextual data) and are stored in varied databases, presenting challenges in terms of access and use (Lovestone).
- Existing and developing infrastructure relevant to AD include, but are not limited to, large databases managed by the Rochester Epidemiology Project (REP) and the Innovative Medicines Initiative (IMI)-European Medical Information Framework (EMIF), as well as Medicare claims data (Bynum, Lovestone, Rocca).
- Regulations intended to protect the privacy of data may have the unintended consequence of stifling international collaborative medical research (Powell).
- Advances in data analytics enable researchers to move beyond correlations to better understand mechanisms and cause-and-effect relationships (Khalil).
- Researchers must respect the intentions of the persons from whom the data were derived, but at the same time ensure that data are used as widely as possible for the best possible purposes (Lovestone, Powell).