The Future of Epidemiology in the Age of Precision Medicine: Cancer, Cardiovascular Disease, and Beyond

We live in the era of “Big Data.” Evaluating the health impact of large scale biological, social, and environmental data is an emerging challenge. Epidemiology, the study of the distribution and determinants of human disease in populations, is a foundational science of public health and provides important insights for medical practice and disease prevention. Epidemiology has contributed to major scientific discoveries such as the relationship between cigarette smoking and common diseases including cancer and heart disease, and chronic obstructive pulmonary disease. Yet, epidemiologic research continues to attract criticism, including “excess expense, repudiated findings, studies that offer small incremental knowledge, inability to innovate at reasonable cost, and failure to identify research questions with the greatest merit.”

In the past 3 years, major discussions about the future of the field have been launched by two National Institutes of Health (NIH) Institutes, the National Cancer Institute (NCI) and the National Heart, Lung, and Blood Institute (NHLBI). Since 2012, the NCI has convened a digital conversation among the scientific community to examine the current state of epidemiology and identify goals for the future of the field. NCI staff used the comments, suggestions, and an expert panel to develop eight recommendations, grouped by theme, that can inform future actions in the field. The article “Transforming Epidemiology for 21st Century Medicine and Public Health” outlines these recommendations and proposed actions for consideration by funding agencies, professional societies, and the research community.

Simultaneously, the NHLBI initiated online and in-person discussions that have focused on ways to creatively transform epidemiology and population science. The NHLBI further established a working group consisting of selected members of the NHLBI Advisory Council and Board of External Experts to consider how best to transform population science. After more than a year of deliberations, the working group generated seven recommendations that were presented to and accepted by the NHLBI Advisory Council. As noted in the published report, an overarching objective of the recommendations is to identify actionable directions that would both benefit from immediate engagement and be consistent with the goals of the NHLBI and NIH.

To facilitate further discussion, we list side by side the recommendations for action that emerged from the NCI and NHLBI processes and group them into seven thematic areas: leadership, resources, cohorts, methods, workforce, integration, and evaluation (Table 1). Below are some areas of common interests that we observed.

Both sets of recommendations highlight epidemiology cohorts as a tool for clinical and population research. Large cohort studies tend to be expensive and increasingly more sophisticated. By definition, if designed well, they can serve to obtain knowledge on a wide variety of disease endpoints beyond cancer and cardiovascular disease. The two Institutes have heavily invested in the creation and follow-up of large population cohort studies (such as the Nurses’ Health Study and the Framingham Heart Study) that have been used to study both cancer and cardiovascular disease with an enormous scientific output over many decades.

Both sets of recommendations suggest embedding, when appropriate, experimental designs such as randomized clinical trials in already assembled cohorts. Such studies can rely on economies of scale to quickly assess hypotheses raised in the observational setting. This recommendation is important to avoid unnecessary scientific dead ends and to maximize the value of the cohort resources.

Both also called for processes to facilitate sharing and pooling of data among cohorts. For example, the NHLBI report recommended the creation of a cohort consortium. The NCI Cohort Consortium was established in 2000. Its membership has increased over time and currently includes more than 50 cohorts that involve more than 7 million study participants. Such a consortium can easily be adapted and extended for a wide variety of other disease endpoints, including cardiovascular diseases.

The Precision Medicine Initiative (PMI) announced by the President earlier this year, also is highly pertinent to the ongoing planning of the future of epidemiology. A major component of this Initiative is to establish a large longitudinal cohort of a million or more participants to study genetic and environmental determinants of a wide variety of human diseases. The emerging knowledge is envisioned to enable better assessment of disease risk, understanding of disease mechanisms, and prediction of optimal therapies. Recent workshops on the potential design of this study spotlight the need to employ new methods and technologies and participant engagement to move this Initiative forward.

The recommendations outlined in Table 1 and the PMI efforts can benefit the field of epidemiology as a whole, beyond cancer and cardiovascular disease. In the coming years, themes such as sharing of resources, data, and metadata; evaluation of new methods and technologies to measure exposures, susceptibility and outcomes; and identification of new ways to collect personal and macro-level data are all crucial to advancing the field of epidemiology. Shared resources such as whole-genome sequencing of study participants will help epidemiologic studies across age and disease spectra. Coordination will be needed among multiple agencies to implement the transformation of epidemiology.

We Want to Hear From You!

We invite additional input from the community on actions to further the implementation of the NCI and NHLBI recommendations, and suggestions for how to leverage existing epidemiology resources and build future ones for the benefits of human health.