Review and special article
Will Genomics Widen or Help Heal the Schism Between Medicine and Public Health?

https://doi.org/10.1016/j.amepre.2007.05.010Get rights and content

Abstract

We discuss the “schism” between medicine and public health in light of advances in genomics and the expected evolution of health care toward personalized treatment and prevention. Undoubtedly, genomics could deepen the divide between the two worlds, but it also represents an important and perhaps unique opportunity for healing the schism, given the volume of new scientific discoveries and their potential applications in all areas of health and disease. We argue that the integration of genomics into health care and disease prevention requires a strong medicine–public health partnership in the context of a population approach to a translational research agenda that includes four overlapping areas: (1) a joint focus on prevention—a traditional public health concern but now a promise of genomics in the realm of individualized primary prevention and early detection, (2) a population perspective, which requires a large amount of population-level data to validate gene discoveries for clinical applications, (3) commitment to evidence-based knowledge integration with thousands of potential genomic applications in practice, and (4) emphasis on health services research to evaluate outcomes, costs, and benefits in the real world. A strong medicine–public health partnership in the genomics era is needed for the translation of all scientific discoveries for the benefit of population health.

Introduction

More than 4 years after the completion of the Human Genome Project, researchers continue to express both excitement and skepticism about the near-term applications of genomics in health care and disease prevention.3, 4, 5 Health applications of genomic research remain focused mainly on individually rare, single gene disorders,6 which account for nearly all of the 1300 or more genetic tests currently available for practice or research use.7 Despite impressive advances in gene discovery and characterization, researchers have voiced reservations about the potential benefits of medical applications of genomics,8, 9 pointing out the complex relationships among genetic variation, the environment, and disease, and the limited clinical validity and utility of genetic risk prediction. They also note that prematurely optimistic claims by researchers, the media, and test developers may lead to unrealistic consumer expectations and inappropriate use of genetic information. In addition, an over-emphasis on the genetics of human disease may divert attention from the importance of environmental exposures, social structure, and lifestyle factors.8

Skepticism about genomics runs high among some public health practitioners whose traditional domains include control of infectious diseases and chronic disease prevention. Some practitioners perceive genomics research as a low-yield investment at best9, 10 and as a dangerous opportunity cost at worst, which undercuts efforts to address social and environmental causes of ill health.11, 12 In this view, genomic medicine is the enemy of public health.

Some public health scientists view genomics research on common diseases as a low priority because “the major preventable environmental causes of illness and death are tobacco use, unhealthy diet, physical inactivity, excess alcohol use, infections, trauma and exposure to environmental toxins.”9 Some envision the only public health applications of genomics to be population screening, and argue that this approach will remain limited to newborn screening programs.10 Others reject genomics research as an unwarranted extension of the individual risk paradigm.11 They criticize the focus of genomics on individual characteristics on both pragmatic and philosophical grounds, citing its failure to prompt effective public health interventions while “blaming the victim.”11, 13 Advocates of this viewpoint often cite the distinction between prevention in populations and in high-risk individuals, which was set out so eloquently by Geoffrey Rose14; however, Rose was careful to present these approaches as complementary rather than mutually exclusive.

The contribution of genomics to population health in the next 50 years remains uncertain. Some public health advocates contend that interventions based on environmental change will be more effective than those focused on individual behavior change (e.g., for obesity control15). The balance between population-based and individually targeted prevention strategies will become even more important in the genomic era.

Section snippets

The Schism Between Medicine and Public Health

The divide between medicine and public health is a longstanding problem in the United States and in many other countries. Recent comments such as, “[T]here is little need for further integration of genetic services and education into public health especially in countries in which public and private health services are dichotomized,”10 reflect the “schism” described by Kerr White, who is a founder of the field of health services research.1 In his 1991 book, Healing the Schism: Epidemiology,

Genomics, Public Health, and Population Health

Public health has traditionally been identified with state, federal and local public health agencies; however, a recent, more inclusive view defines public health professionals as all those who work on improving health from a population perspective.33 According to this definition, “public health professionals” include not only those employed in government but also those employed in healthcare delivery, academia, community organizations, and the private sector; together, they are actors in the

A Framework for a Medicine–Public Health Partnership in the Genomic Era

In this section, we discuss a framework for an enhanced partnership between medicine and public health that can guide translation from research to practice in the genomics era. This framework consists of four principal, overlapping areas that contribute to the discovery and application of genomics-based knowledge: a focus on prevention, a population perspective, a commitment to evidence-based knowledge integration, and an emphasis on health services research. We also suggest that this

Conclusion

Advances in genomics—especially in relation to common diseases—are increasing the interaction and the interdependence between the traditional healthcare delivery system, which focuses on treatment of individuals, and the public health system, which focuses on prevention and control in populations. This enhanced interaction is creating a shared “population health” focus on using genomic advances appropriately and effectively to promote health and to prevent disease.

Because the field of genomics

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