The Precision Medicine Initiative and Public Health

LUCY GUAN explores the multidimensional facets of precision medicine and the impact it may have on effective treatments for patients, populations, and public health initiatives at large.

December 22, 2020

“You can match a blood transfusion to a blood type — that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as simple as taking our temperature?” With these words, President Barack Obama painted an ambitious future as he launched the Precision Medicine Initiative during his State of the Union Address in 2015. Indeed, what if a doctor could look at our genetic or biological make-up, and determine the perfect dose of the right medication, that not only works best but minimizes side effects? What if the same data that could lead us there could also elucidate whether entire subgroup populations might respond differently to various interventions?

I first learned of these exciting possibilities when I began working as a research coordinator for the All of Us Research Program, the cornerstone of the Precision Medicine Initiative, in 2017. As the country’s largest longitudinal study, the research program aims to recruit over 1 million diverse participants across the country to contribute health information to a national research resource in order to accelerate broad-based biomedical and population research. Essentially, the goal is to develop a massive repository of de-identified health data, which will be widely available to approved researchers. was drawn to the program’s dedication to recruiting people in demographic groups that have been underrepresented in biomedical studiesBy taking into account individual variations in lifestyle, socioeconomic factors, environment, and biological characteristics, researchers across the country will contribute to discoveries that can advance precision diagnoses, prevention, and treatment in an equitable manner. The availability of these data is the key piece of the Precision Medicine Initiative that will materialize this possibility of tailoring health interventions to individuals and to specific populations into a reality.

Recruiting a diverse cohort of over 1 million study participants allows us to reach public health goals, as diversity is an essential first step to achieving equitable outcomes in population research, and ensuring that future therapies and interventions benefit all populations. This is crucial towards addressing the irreparable historical injustices of biomedical research in the U.S and the disparities in health outcomes between demographic groups that are represented in research studies and clinical trials and groups that have been left out. As such, the representative data set of genetic, lifestyle, and behavioral health information collected from the All of Us Research Program has enormous potential to promote health equity, reduce health disparities and advance biomedical science in minority health. 

As a coordinator working within the New England consortium of the program, I enrolled participants from hospitals and community health centers throughout the Boston area when the program began recruiting its first participants for beta testing. I guided participants through a standardized enrollment procedure: participants shared their electronic health record (EHR) data, donated biospecimens for genomic and other laboratory assessments, responded to health questionnaires, and provided standardized physical measurements.

Though my involvement was at the individual participant level, my passion for the work was driven by the bigger picture: the future impact this program would have on population-based and public health. Ultimately, my interest in this impact led me to pursue a public health degree at Mailman. 

As targets for federal funding will always serve as a point of contention among scientists in different fields, the burgeoning attention on precision medicine has been met with skepticism by many public health experts. Some have questioned whether the grandeur of the program’s funding is shifting focus to an unrealistic future in clinical medicine while steering more traditional (and perhaps more achievable) public health goals out of the spotlight. This is especially relevant because of our country’s long-standing history of prioritizing health care spending towards technological advances in clinical care at the expense of public health and prevention. In 2019, for example, the National Institutes of Health (NIH) provided $15.9 billion to fund clinical research and $6.1 billion to support clinical trials. In contrast, research funding for health disparities was $3.4 billion. It is a legitimate concern for the public health field that the money spent to discover treatments for exceptionally rare diseases (or search for direct genetic correlates to disease when such correlates may not even exist) could be better spent on existing public health efforts. Is it more worthwhile to invest in developing targeted therapies that benefit a smaller portion of the population, or in promoting broad prevention and social services that could benefit a greater portion of the population in the long run? Admittedly, a future where flawless “silver-bullet” precision medicine treatments exist for all diseases, including the rarest, is an improbable one.

While this optimistic vision in precision medicine may have been the intention at its launch, the true potential of the Precision Medicine Initiative is the multidimensional impact it may have in improving stratified population medicine and research, leading to more effective treatments for more precise groups of patients and more targeted public health initiatives. It can and will provide the technological foundation to revolutionize not just key areas in clinical therapies for diseases like cancer and Alzheimer’s Disease, but areas in public health as well. Public health researchers can and should embrace access to such a large, increasingly complex data set, which may allow for better statistical modeling and more informed investigation into matters essential to public health in this country, such as chronic disease prevention, environmental health, and health equity.

As a public health student, I have seen the influence that longitudinal studies have on informing public health solutions. Imagine the power of a long-term study with a sample size of over 1 million people and representative diversity among participants. 

The insights derived from such a large data set can identify shortcomings in clinical practice that disproportionately affect certain populations, however narrow, and bridge disparities in health outcomes. Emerging data analysis technology at the core of precision medicine can expedite population health research, sharpen surveillance methods, and support the development of policies and targeted programs for disease prevention. The successes of this initiative can open doors for public health efforts by strengthening public trust in government-funded health initiatives. 

The All of Us Research Program and the Precision Medicine Initiative have the potential to contribute immensely to efforts in both public health and clinical medicine. The precision medicine movement represents a growing opportunity for public health to assert its deserving role in healthcare delivery by reconceptualizing with technology and innovation to incorporate large-scale population data. The data collected in the name of the Precision Medicine Initiative are a powerful resource that could help the fields of public health and clinical medicine make great strides into the future of more individualized, data-driven care for all.

Lucy Guan is 2021 MPH candidate in the Heilbrunn Department of Population and Family Health. She double-majored in Biology and Spanish at Washington University in St. Louis.