An Overview of Ethics and Public Health Genetics
Abstract and Keywords
Public health genetics (more commonly referred to as “community genetics” in Europe) has been practiced to some degree in the West since at least the 1960s, but the development of a cohesive field took time and advances in technology. The application of genetics and genomics to prevent disease and promote public health became firmly established as a field in the late 1990s, as large-scale sequencing of the human genome as part of the Human Genome Project began. The field is now thriving, leading to both tremendous public health benefits and risks for both individuals and populations. This chapter provides an overview of the section of The Oxford Handbook of Public Health Ethics dedicated to public health genetics. The chapters roughly trace the evolution of public health genetics from its roots in eugenics, to the present challenges faced in newborn screening and biobanking, and finally to emerging questions raised by the application of genomics to infectious disease.
Although public health genetics can trace its roots back to the eugenics movement of the early twentieth century and the start of newborn screening in the 1960s, it emerged as a field in the late 1990s and grew up in parallel with and driven by the Human Genome Project (HGP). Public health genetics (more commonly referred to as “community genetics” in Europe) can be described as “the application of advances in genetics and molecular biotechnology to improving public health and preventing disease” (Austin, Peyser, and Khoury, 2000, 82). While the work of public health genetics had been ongoing for some time, both in the United States and internationally (for example, the World Health Organization had screening and counseling programs for beta thalassemia in the 1980s [Modell and Kuliev, 1998]), a cohesive field took time to emerge. A key event in the birth of the field—perhaps its US birth announcement—came in 1997 when the US Centers for Disease Control and Prevention (CDC) established the Office of Genetics and Disease Prevention, now known as the Office of Public Health Genomics (CDC, 2018). The timing of this birth makes enormous sense, given that large-scale sequencing of the human genome as part of the HGP began in 1996, although a completed first draft was not published until 2003. The genomic data provided by the HGP fueled the field of public health genetics. Gilbert Omenn commented in 2000 that the prospect of a decoded human genome would launch a “golden age for the public health sciences” (Omenn, 2000, 1).
Shortly before the establishment of the Office of Genetics and Disease Prevention, Muin Khoury (who would become the head of that office) and colleagues laid out the current and potential role of genetics in executing the core functions of public health (p. 636) (Khoury and the Genetics Working Group, 1996), as defined by the Institute of Medicine (IOM, 1988). These core functions of public health include assessment, policy development, and assurance of health services, onto which Khoury and colleagues mapped, respectively, activities such as epidemiological studies of disease-environment interactions, policy regarding deployment of particular genetic tests for disease prevention, and development of public health genetic programs such as the addition of newborn screening tests. The authors also noted that studies of the ethical, legal, and social implications of these interventions would be required prior to deployment. Throughout the development of the field of public health genetics, there has been a focus on the ethical issues raised by the application of genetics and genomics to improving population health.
In 1998, at the First Annual Conference on Genetics and Public Health, held in Atlanta, Georgia, many of the ethical challenges raised by the chapters in this section of The Oxford Handbook of Public Health Ethics were discussed. (In fact, two chapter authors were presenters at the meeting—Gail Geller and Eric Juengst; see also Khoury et al., 1998). That same year, the journal Community Genetics launched in Europe. The first issue focused largely on genetic testing, but it also highlighted the importance of attention to ethical, legal, and social issues. The editor cautioned that in our pursuit of the benefits of community genetics/public health genetics, “we should not bargain on ethical principles of autonomy, doing good and not harm, justice, and providing equal access and solidarity” (ten Kate, 1998, 2).
In 2000 a “mini-symposium” on public health genetics highlighted the range of issues that the emerging field was confronting, including nutrition and genetics, population screening for hemochromatosis, ecogenetics (the relationship of genetic variation to risks from environmental exposures), behavioral genetics, and host-pathogen interactions, as well as research and training in ethical, legal, and social implications of public health genetics. Importantly, many of the challenges and research questions discussed, studied, or forecast then are still with us today.
Since the late 1990s, as technology has become more powerful, less expensive, and more accessible, public health genomics has gained traction internationally. The World Health Organization’s Human Genomics in Global Health Initiative now has collaborating partners in Brazil, Cuba, India, Jordan, and beyond (WHO, 2018). With such technological improvements and increased international reach, we are finally coming to a sufficient understanding of parts of the human genome to allow researchers to better address the kinds of questions raised twenty years ago.
This section of The Oxford Handbook of Public Health Ethics is dedicated to the examination of ethics and public health genetics. The section’s chapters are arranged in roughly chronological order, from public health genetics’ past, to the present challenges faced by the field, and, finally, largely looking to the future. The chapters are introduced below.
(p. 637) Eugenics
In “Eugenics and Public Health: Historical Connections and Ethical Implications,” Paul Lombardo looks back at the early relationship between public health and genetics in America. As Lombardo writes, many in the public health field are unaware of the historical relationship between genetics, eugenics, and public health. This history is important to remember, not only because it has shaped genetic practice, but also because many of the questions and concerns raised by this shared history remain with us today. As Lombardo notes, both eugenics and public health emphasized population-based solutions for health problems and saw a role for the state in accomplishing their goals.
The term eugenics was coined by Francis Galton in 1883 (Galton, 1883, 17), and it came to describe a science that “promised an improvement in future generations by selective encouragement of childbirth for productive, healthy members of society, along with simultaneous discouragement of parenthood among the chronically ill, the disabled, and others who depended upon public welfare” (Lombardo, this volume). While there was certainly resistance to eugenics from some in public health, there was also profound overlap among prominent figures in these fields, including multiple eugenicists who served as president of the American Public Health Association, and as faculty at leading schools of public health in the United States. However, perhaps the greatest US public health impact came not from those professional or academic intersections, but rather from the passage of eugenic health laws in US states. For example, “eugenic marriage laws” mandated premarital testing and imposed certain restrictions, using arguments from disease prevention and, sometimes, “race betterment.” These laws went on to include sterilization and anti-miscegenation laws, and eventually restrictions on immigration, in an effort to “protect our racial stock” (Knox, 1915). As Lombardo writes, these eugenic laws with public health rationales “violated expectations of autonomy, equal treatment, and justice by often targeting the most vulnerable—the poor, the disabled, and sexual and racial minorities—as the objects of eugenic reform” (Lombardo, this volume). While Lombardo notes that “historical similarities are not moral equivalents” (Pernick, 1997, 1770), he cautions that society must be careful not to repeat the mistakes and transgressions of the past as we again embrace the power of genomics in service of public health.
In “Newborn Screening in the United States: Ethical Issues,” Michelle Huckaby Lewis and Jeffrey R. Botkin discuss the topic of newborn screening, perhaps the largest and most familiar contemporary public health genetics program. Begun in the 1960s with a test for phenylketonuria (PKU) developed by Dr. Robert Guthrie, the vast majority of babies born each year in the United States have their blood spotted onto Guthrie cards shortly after birth. State-administered screening programs test the blood for a range of markers that indicate the presence (or increased risk) of disease. The original goal of newborn (p. 638) screening was to identify babies with disease so that treatment could be initiated before the disease caused permanent damage. While newborn screening has been a tremendously successful public health program, it remains controversial due to details of both the testing and post-testing storage and use.
Though newborn screening began with one simple screen for an abnormal presence of phenylalanine metabolites in the blood, new technology has enabled a dramatic increase in the number and type of conditions that can be detected. For example, new technology (tandem mass spectrometry) in the 1990s made possible the simultaneous identification of dozens of metabolic conditions. Unlike PKU, some of these newly identifiable conditions were poorly understood and could not be readily treated. Over time, tremendous variability developed across US state programs, such that babies in different states received very different testing (e.g., screening for two conditions versus dozens). Efforts at standardization were met with controversy, largely due to the dramatic increase in the number of recommended screening tests, expansion beyond the public health mission, and lack of attention to the associated ethical issues (Botkin et al., 2006).
One such ethical issue relates to parental consent. Parental consent is generally not required for newborn screening and historically has not been required for the retention and secondary use of de-identified blood spots. However, the expansion beyond the public health mission, changes in risks associated with secondary use, and public perceptions of such uses make “the question of how to allocate decision-making authority for newborn screening among parents, states, and physicians less clear” (Lewis and Botkin, this volume) It is worth noting that the controversy surrounding the storage and use of blood spots for research reflects a broader conversation regarding the benefits, harms, and acceptability of using leftover clinical samples for biomedical research.
The practice of biobanking is discussed in “Public Health Genomics, Biobanking, and Ethics” by Karen Meagher, R. Jean Cadigan, Gail E. Henderson, and Eric T. Juengst. As human biospecimens and data are increasingly being collected into large-scale biobanks, a parallel evolution is taking place in the relationship between biobanks and those whose samples and data are being collected, stored, and used. These biobanks are often designed for translational genomic research or health care quality improvement, but are facing increasing calls for use in public health surveillance and intervention (Khoury and Evans, 2015; Aswini and Varun, 2010). Further, just as the decreasing cost and increasing accessibility of large-scale genetic testing, including whole genome sequencing, will challenge the paradigm of newborn screening, so will it transform biobank research.
Meagher et al. examine three case studies that illustrate such challenges: the MyCode Community Health Initiative at the Geisinger Health System (GHS), the GeneScreen research project using the Kaiser Permanente Northwest Research Biobank (KPNW-RB), and the US Precision Medicine Initiative (PMI) All of Us Research Program Biobank at Mayo Clinic. As noted by Meagher et al., “At the intersection of biobanking and public health, researchers, biobank curators, and participants face (p. 639) challenges when implementing confidentiality protections, informed consent method and scope, community engagement, and return and disposition of results. Each of the three cases demonstrates shifting contexts in these regards, as research increasingly has translational implications, resulting in a mix of research, clinical, and public health purposes” (Meagher et al., this volume).
However, these contexts have different cultures, norms, and moral traditions, and implementing their goals using the same resource (biobank) or blurring the lines between these contexts comes with both benefits and risks. For example, stripping identifying information (taking, for a moment, the current regulatory stance that DNA and genomic data are not inherently identifying) from biospecimens may be an important step to help protect confidentiality in the context of research, but this protection for the research context eliminates the option of returning clinically useful results to biospecimen contributors. If a biobank is built for clinical purposes, which require maintaining identifying information and facilitating return of results, the standards for informed consent and the necessary privacy and confidentiality measures will be a poor fit for public health purposes. These current and near-term ethical challenges must be addressed, and how they are addressed will help shape future directions.
In “Genetic Epidemiology, Infectious Disease, and Public Health Ethics,” Priya Duggal, Gail Geller, and Andrea Sutherland explore some of the ethical challenges ahead that will be raised by the application of genomics to the study, prevention, and control of infectious disease, including challenges related to the kind of blurring between contexts noted by Meagher et al. Existing and emerging genomic technologies have the potential to enhance and shape our ability to reduce the global burden of infectious disease, including helping us better understand infectious disease pathology; develop, improve, or re-engineer diagnostic, vaccines, and therapies; and improve public health interventions (e.g., source and contact tracing). As noted by Duggal, Geller, and Sutherland (this volume), there is also “growing evidence that host genetic factors, and the interaction between host, vector and pathogen, influence variability in infection rates, immune responses,” and a range of other factors shaping an individual’s response to infectious disease and medical countermeasures.
Infectious diseases are incredibly diverse both in their interactions with humans and in the constellation of ethical issues raised by our study of and combat with them. While there is a tremendous body of literature exploring the ethical, legal, and social implications of genomics related to Mendelian and complex disease, and much of this can be applied to infectious disease, the literature focused on ethics, genomics, and infectious disease is in its infancy (Geller et al., 2014). Duggal, Geller, and Sutherland use three examples to explore the kinds of ethical issues we should anticipate in this context: inequities in HIV morbidity and mortality (inequities that exist and may be exacerbated by genomic approaches to public health interventions), personalized vaccines (e.g., adjustments made to which vaccine or doses to deliver, or policies about whom to vaccinate (p. 640) upon identification of a genetic disposition to vaccine-related adverse events), and triage during epidemics (e.g., prioritizing or deprioritizing those with certain genotypes that predict likelihood or severity of infection for access to scarce resources). As this science progresses, more ethical issues will emerge that we did not anticipate and that are not yet represented in the literature discussing the ethical, legal and social issues raised by genetics. As noted by the authors, we must extract what lessons we can from related ethical, legal, and social issues from the past; continue to systematically forecast any issues that might arise; and assess those that are confronted in the future.
Although public health genetics and genomics is still a relatively young field, it is poised to take an increasingly important role in global public health. As the cost of genomic testing and sequencing has decreased and small, portable testing devices have been developed, the range and scale of uses and possible scale have expanded from the kinds of screening programs that the World Health Organization and others have been engaged in for decades, to the kinds of infectious disease–oriented efforts described and anticipated by Duggal, Geller, and Sutherland. While practitioners of public health have long been sensitive to the ethical tensions inherent in their work, the growing infusion of genomics requires attention to new ethical dimensions, many of which are familiar to those in genomics but new to public health, and some of which will be novel and are yet to be identified, understood, and addressed.
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