Advancing understanding of the mechanisms of disease point to a growing number of examples of “genetic diseases” with an infectious component, and of “infectious diseases” with a genetic component. This combination of factors creates an overlapping or merging of what had formerly been understood as separate categories of disease, an observation noteworthy for both the change it signals in the understanding of disease mechanisms and for the ethical, legal and social implications (ELSI) it seems to invoke.
This blurring and overlapping is happening between many categories relevant to ELSI research; for example, between genetic testing for health, ancestry, recreation, and law enforcement. Across areas of science and emerging technologies, previously understood silos are overlapping and merging in ways that suggest that we need new ways of assessing and developing oversight for science, technology and their use. These shifting boundaries - between infectious and genetic disease, and between uses of emerging technologies - are creating an important and, as yet, understudied area of inquiry. Specifically, what ELSI issues do such fluid boundaries raise?
This interdisciplinary panel will analyze the changing conceptualizations of the relationship between infectious and genetic disease from the historical (Alexandre White), philosophical (Eric Juengst) and legal (Anna Mastroianni) perspectives, and the ELSI of the evolving understanding(s) of this dynamic in the broader context of emerging technologies (Debra Mathews). We will highlight the particular relevance of blurring boundaries in the contexts of research, clinical care, public health, and public policy.
Hereditary / Infectious: Historical Perspectives on a Blurry Boundary
Prof. Dr. Alexandre White | Johns Hopkins University School of Medicine | United States
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Prof. Dr. Alexandre White | Johns Hopkins University School of Medicine | United States
The history of medicine demonstrates that the categorization of diseases as either infectious or hereditary has never been straightforward, as researchers and publics have weighed the roles of contagion, constitution, and environment. From the eugenics movement to medical specialization to labor activism, social interests and institutional arrangements have led various groups to prioritize different causal factors at different times. Drawing from the histories of diseases explored by our research team—including tuberculosis, hereditary colorectal cancer, cervical cancer, and AIDS—this presentation explores the social stakes of contested classifications. The historical literature also reveals prior attempts to conceptualize the interaction of multiple causes, which this presentation will compare to present day systems approaches.
Blurred Boundaries: Philosophical Perspectives
Dr. Eric Juengst | University of North Carolina
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Dr. Eric Juengst | University of North Carolina
The emergence of interest in understanding infectious diseases like HIV or COVID-19 in terms of patients’ inherited risk factors as well as acquired pathogens has two sets of related philosophical repercussions. The first set are the conceptual implications of integrating a second form of etiology into the “germ theory” model of infectious disease. As the quality of the patient’s genetic “soil” rises in causal importance to qualify the potency of the pathogenic “seed”, it shifts biomedicine’s focus across the waterfront of basic research methods, diagnostic strategies, and treatment models. Even more importantly, it challenges public health approaches to prevention, by undermining the logic and economy of universal preventive measures based on assumptions of universal susceptibility. This leads to the second set of philosophical consequences, which are ethical. The ethical traditions and precepts that ground traditional infectious disease practices on questions of diagnostic disclosures, patient autonomy, and infection control contrast sharply with those that have governed the practice of medical genetics and genomic medicine in the wake of the Eugenics Movement’s attempts to adopt public health approaches to inherited health risks. How should these different moral commitments be balanced in these complex conceptual situations, and on what philosophical grounds?
Legal Analysis at the Boundaries
Prof. Anna Mastroianni | University of Washington School of Law and Institute for Public Health Genetics
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Prof. Anna Mastroianni | University of Washington School of Law and Institute for Public Health Genetics
Prof. Leslie Henry | University of Maryland Carey School of Law
The legal terrain on which genetics and infectious disease meet is largely uncharted territory. In the United States, for example, the progressive fusion of the two domains places pressure on numerous federal and state laws that have distinct origins and applications. Laws implicating genetics and laws implicating infectious diseases have developed separately, address different concerns (e.g., health risks to individuals versus populations), and advance different goals (e.g., protecting health privacy versus preventing disease outbreaks). Scientific and medical developments that link genetics and infectious disease disrupt those legal silos, exposing potential gaps in which “caution, confusion, uncertainty, and inconsistency” among key stakeholders can impede the translation of scientific advances (Laurie, Harmon and Arzuaga, 2012), to the detriment of public health and medical practice. This presentation will illuminate some of the variety of ways in which the intersection of genetics and infectious disease interacts with or disrupts the existing legal landscape to inform interdisciplinary discourse and agenda setting as it relates to genetics and infectious disease.
ELSI of Emerging Technologies when Boundaries Fail
Prof. Debra Mathews | Johns Hopkins Berman Institute of Bioethics
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Prof. Debra Mathews | Johns Hopkins Berman Institute of Bioethics
The blurring of the boundary between infectious and genetic disease is but one example of how seemingly clear boundaries between disease causations, data sources, technologies, and fields are becoming more permeable or failing altogether. For example, in the case of COVID-19, not only is global research on host genomics pushing hard on the boundary between infectious and genetic disease, but also the millions of samples collected in the context of a public health emergency are almost certain to be repurposed for a wide variety of research unrelated to infectious disease. Despite the fact that the technology is largely the same for genetic testing for health, ancestry, recreation, and law enforcement, the justification for sample collection and the governance of those data are very different – yet the silos around the data have begun to fall. Genome editing, imagined by many as a way to create embryos that grow into babies free of genetic disease was first used to introduce resistance to an infectious disease. While this blurring is arguably accelerating across a range of domains, we have only begun to grapple with the ethical, legal, and social implications of such fluid boundaries. Further, we lack mechanisms to facilitate anticipation and analysis of these issues, and governance models are not designed to accommodate such blurring.