Ethics and the Genomics

Selected resources from The Hastings Center.

Table of Contents

Bioethics Briefings:

Genomics, Behavior, and Social Outcomes

Within the past decade, sequencing of the human genome and the rapid development of large-scale DNA testing technology has given rise to a new era of genomic research. Genomic-wide association studies are used to scour large swaths of human DNA and identify very small associations between genetic variants and traits such as height and weight. Read our briefing to consider: How informative is genomic research on complex behavior and outcomes?

From Hastings Bioethics Forum:


From Hastings Center Report:

What Do Genomics Studies Really Mean? A New Resource

First published: 11 April 2021

Abstract

Research on how genetics contribute to human behavior and achievement raises many bioethical questions. What are we to make, for example, of a study published last year that found that students with genetic variants associated with educational attainment (years of education) took more advanced math classes in ninth grade? Does this finding have implications for education practice? Should it? How so? Questions like these serve as reminders that genetic science has long been misused to draw conclusions about individuals and groups of people, conclusions laced with racism and other biases. As research on human genomics ramps up, now is the time to ramp up science communication about what these studies do and, importantly, do not show. A new feature on The Hastings Center’s website does just that.

Can Genetic Nondiscrimination Laws Save Lives?

First published: 14 December 2020

Abstract

Numerous state laws and the federal Genetic Information Nondiscrimination Act (GINA) have been enacted to prevent or redress genetic discrimination in employment and health insurance, but laws protecting against genetic discrimination in life insurance have been less common and weak. Consequently, some individuals with a genetic risk of a serious illness have declined presymptomatic genetic testing, thereby decreasing their prevention and treatment options and increasing their mortality risk. In 2020, Florida became the first state to prohibit life insurance companies from using the results of presymptomatic genetic tests in underwriting. Although the law was “only” intended to prevent genetic discrimination, a possible or even likely consequence of the law will be to encourage timely genetic testing by at-rick individuals and thereby save lives.

Coding the Self: The Infopolitics and Biopolitics of Genetic Sciences

First published: 29 June 2020

Abstract

This essay compares three models for conceptualizing the political and ethical challenges of contemporary genetics, genomics, and postgenomics. The three analytical approaches are referred to as the state-politics model, the biopolitical model, and the infopolitical model. Each of these models is valuable for different purposes. In terms of their influence in contemporary discussions, the first is by far the dominant approach, the second is gaining in importance, and the third is almost entirely neglected. The widespread neglect of the infopolitical dimensions of genetic sciences that are the focus of the third model is puzzling in light of the fact that genetics, genomics, and postgenomics are all preeminent information sciences. The infopolitical model thus aims to bring into clearer view the specific political and ethical problems engendered by this informational nature of the genetic sciences. This model offers a way of understanding how ethically salient and politically fraught conceptual assumptions can be embedded in informational architectures such as algorithms and the formats (or data structures) upon which they rely.

Does Solidarity Require “All of Us” to Participate in Genomics Research?

First published: 29 June 2020

Abstract

In this paper, I interrogate an ethical obligation to participate in genomics research on the basis of solidarity. I explore two different ways in which solidarity is used to motivate participation in genomics research: as an appeal to participate in genomic research because it cultivates solidarity and as an appeal to participate in genomic research because it expresses solidarity. I critique those appeals and draw lessons from them for how we ought to understand solidarity. The working definition of solidarity that I defend is that solidarity involves recognizing another creature, person, or persons as, like ourselves, vulnerable to injustice and entails acting in ways that contribute to creating, reforming, and participating in institutions that are aimed at enhancing their flourishing. I argue that participating in genomics research is not an expression of solidarity. Participation in research may be praiseworthy, a “good thing to do,” but actually cultivating and expressing solidarity requires much more of us.

Precision (Mis)Education

First published: 18 February 2020

Abstract

In August of 2018, the results of the largest genomic investigation in human history were published. Scanning the DNA of over one million participants, a genome-wide association study was conducted to identify genetic variants associated with the number of years of education a person has completed. This measure, called “educational attainment,” is often treated as a proxy for intelligence and cognitive ability. The study raises a host of hard philosophical questions about study design and strength of evidence. It also sets the basis for something far more controversial. Using a new genomic method that generates “polygenic scores,” researchers are now able to use the results of the study to predict a person’s educational potential from a blood or saliva sample. Going a step further, some researchers have begun to promote “precision education,” which would tailor students’ school plans to their genetic profiles. The idea of precision education provokes concerns about stigma and self-fulfilling prophecies.

Who Are You?

First published: 26 December 2018

Abstract

At a time when our views on practically everything are polarized, there’s one thing that growing numbers of us agree on: we want genetic information about ourselves. About 15 million people have taken a direct-to-consumer genetic test, up from 4 million two years ago. Millions more are likely to give these tests as holiday gifts. Many people consider genetic findings deeply meaningful to their understanding of who they are. This information is a gift, but it is also a weight—a paradox that was the theme of a conference organized by my colleagues Erik Parens and Joel Michael Reynolds in October 2018. Genomic knowledge is a gift when, for example, it connects us with relatives whom we’re glad to meet. But it is a weight when it pigeonholes us into categories that suggest racial differences and possibly stereotypes.

GINA at Ten and the Future of Genetic Nondiscrimination Law

First published: 26 May 2018

Abstract

May 21, 2018, marks the tenth anniversary of the signing into law of the Genetic Information Nondiscrimination Act. The Congressional deliberations for GINA were long and difficult. The original bill was introduced in 1995, and for many years, it did not look as if the bill would ever emerge from committee. Several of its provisions raised concerns for insurers, employers, and other stakeholders. After thirteen years, the controversial provisions were either deleted, revised, or clarified.

At this ten-year mark, it is appropriate to take stock of GINA. In light of GINA’s glacial legislative history, it is reasonable to start thinking about the necessity, wisdom, and feasibility of amending GINA or enacting new legislation to address unresolved or emerging issues of genetic discrimination and trends in genetics, genomics, precision medicine, and related technologies.

Skepticism in the Genomic Era

First published: 22 November 2016

Abstract

I joined The Hastings Center this past summer, after graduating from Duke University, where I researched advancements in neuroscience and genomics and their import for law, ethics, and policy. This research required, to an extent, faith in the idea that researchers can identify pathways by which genes combine with epigenetic and environmental factors to affect neuronal activity and influence behaviors. Throughout my first months here, I have puzzled over broad critiques of “genomic hype” in recent literature, which clash with the optimistic rhetoric found in the Human Genome Project and the Precision Medicine Initiative.

From “Personalized” to “Precision” Medicine: The Ethical and Social Implications of Rhetorical Reform in Genomic Medicine

First published: 21 September 2016

Abstract

Since the late 1980s, the human genetics and genomics research community has been promising to usher in a “new paradigm for health care”—one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this “paradigm shift,” creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a “scientific/intellectual social movement” within biomedicine. Proponents of this movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is more “personalized,” “predictive,” “preventive,” and “participatory” than the medical status quo. Initially, it was personalization that seemed to best sum up the movement’s appeal. By 2012, however, powerful opinion leaders were abandoning “personalized medicine” in favor of a new label: “precision medicine.” The new label received a decisive seal of approval when, in January 2015, President Obama unveiled plans for a national “precision medicine initiative” to promote the development and use of genomic tools in health care.

Balancing Benefits and Risks of Immortal Data

First published: 17 December 2015

Abstract

An individual’s health, genetic, or environmental-exposure data, placed in an online repository, creates a valuable shared resource that can accelerate biomedical research and even open opportunities for crowd-sourcing discoveries by members of the public. But these data become “immortalized” in ways that may create lasting risk as well as benefit. Once shared on the Internet, the data are difficult or impossible to redact, and identities may be revealed by a process called data linkage, in which online data sets are matched to each other. Reidentification (re-ID), the process of associating an individual’s name with data that were considered deidentified, poses risks such as insurance or employment discrimination, social stigma, and breach of the promises often made in informed-consent documents. At the same time, re-ID poses risks to researchers and indeed to the future of science, should re-ID end up undermining the trust and participation of potential research participants.

The ethical challenges of online data sharing are heightened as so-called big data becomes an increasingly important research tool and driver of new research structures. Big data is shifting research to include large numbers of researchers and institutions as well as large numbers of participants providing diverse types of data, so the participants’ consent relationship is no longer with a person or even a research institution. In addition, consent is further transformed because big data analysis often begins with descriptive inquiry and generation of a hypothesis, and the research questions cannot be clearly defined at the outset and may be unforeseeable over the long term. In this article, we consider how expanded data sharing poses new challenges, illustrated by genomics and the transition to new models of consent. We draw on the experiences of participants in an open data platform—the Personal Genome Project—to allow study participants to contribute their voices to inform ethical consent practices and protocol reviews for big-data research.

Epigenetics in the Neoliberal “Regime of Truth”

First published: 14 December 2015

Abstract

Recent findings in epigenetics have been attracting much attention from social scientists and bioethicists because they reveal the molecular mechanisms by which exposure to socioenvironmental factors, such as pollutants and social adversity, can influence the expression of genes throughout life. Most surprisingly, some epigenetic modifications may also be heritable via germ cells across generations. Epigenetics may be the missing molecular evidence of the importance of using preventive strategies at the policy level to reduce the incidence and prevalence of common diseases. But while this “policy translation” of epigenetics introduces new arguments in favor of public health strategies and policy-making, a more “clinical translation” of epigenetics is also emerging. It focuses on the biochemical mechanisms and epigenetic variants at the origin of disease, leading to novel biomedical means of assessing epigenetic susceptibility and reversing detrimental epigenetic variants.

In this paper, we argue that the impetus to create new biomedical interventions to manipulate and reverse epigenetic variants is likely to garner more attention than effective social and public health interventions and therefore also to garner a greater share of limited public resources. This is likely to happen because of the current biopolitical context in which scientific findings are translated. This contemporary neoliberal “regime of truth,” to use a term from Michel Foucault, greatly influences the ways in which knowledge is being interpreted and implemented. Building on sociologist Thomas Lemke’s Foucauldian “analytics of biopolitics” and on literature from the field of science and technology studies, we present two sociological trends that may impede the policy translation of epigenetics: molecularization and biomedicalization. These trends, we argue, are likely to favor the clinical translation of epigenetics—in other words, the development of new clinical tools fostering what has been called “personalized” or “precision” medicine. In addition, we argue that an overemphasized clinical translation of epigenetics may further reinforce this biopolitical landscape through four processes closely related to neoliberal pathways of thinking: the internalization and isolation (aspects of liberal individualism) of socioenvironmental determinants of health and increased opportunities for commodification and technologicalization (aspects of economic liberalism) of health care interventions.

Is There Room for Not Knowing “Everything”?

First published: 19 January 2015

Abstract

This fall, a recurrent theme at the meetings and conferences I attended was the benefit of learning as much as possible about one’s genome and the genomes of one’s children, including newborn babies. Genetic science is progressing fast, and scientists can now unravel and understand ever more about the tiny ways in which one person’s genome differs from another’s. This emerging data is useful, the argument goes, because (occasionally now but mainly in the promised near future) it can be used to tailor medical care, make more informed lifestyle choices, and chart a personalized education.

From here, a related argument can be developed: that one ought to learn as much as possible about one’s genome and the genome of one’s children. I keep wondering, however, how well I could actually process all this information and whether much of it would, in fact, help me become a better and healthier person, or a better parent.

Genetic Discrimination in Employment Is Indefensible

First published: 18 November 2013

Abstract

The first of three commentaries on “A Defense of Genetic Discrimination,” from the July-August 2013 issue.

Genoism by Any other Name?

First published: 18 November 2013

Abstract

The second of three commentaries on “A Defense of Genetic Discrimination,” from the July-August 2013 issue.

How Big a Problem Is Genetics Exceptionalism in Employment?

First published: 18 November 2013

Abstract

The third of three commentaries on “A Defense of Genetic Discrimination,” from the July-August 2013 issue.

A Defense of Genetic Discrimination

First published: 10 July 2013

Abstract

The United States’ Genetic Information Nondiscrimination Act of 2008 was sweeping legislation intended to protect the privacy of genetic information and prevent discrimination based on genetic factors in health insurance and employment. It protects the genetic privacy of individuals in these contexts and limits the likelihood that genetic discrimination will occur. However, in the case of employment, it does so at the cost of safety, both to the individuals it is meant to protect and to others. On occasion, adherence to the dictates of GINA could lead to serious and avoidable harm to many people.

Odd as it may seem, then, there can be such a thing as justified genetic discrimination. There are times when knowledge of genetic factors and subsequent action overrides reasons against obtaining or using such information. Moreover, this knowledge can be obtained without violating one’s genetic privacy.

Are You Feeling Empowered Yet?

First published: 13 September 2012

Abstract

In this issue of the Report, Eric Juengst, Michael Flatt, and Richard Settersten, Jr., explore the positioning of genomic research as a “paradigm changer.” This notion has given the field a certain cache quite aside from its actual contributions to improved medical care. Genomic research is described to funders, health care leaders, and the public in language that includes a vision of the future. It will move us beyond the inadequacies of current medical care into a bold new world of personalized, predictive, preventive, and participatory medicine.

Prenatal Whole Genome Sequencing

First published: 20 June 2012

Abstract

Whole genome sequencing is quickly becoming more affordable and accessible, with the prospect of personal genome sequencing for under $1,000 now widely said to be in sight. The ethical issues raised by the use of this technology in the research context have received some significant attention, but little has been written on its use in the clinical context, and most of this analysis has been futuristic forecasting. This is problematic, given the speed with which whole genome sequencing technology is likely to be incorporated into clinical care. This paper explores one particular subset of these issues: the implications of adopting this technology in the prenatal context without a good understanding of when and how it is useful.

Prenatal whole genome sequencing differs from current prenatal genetic testing practice in a number of ethically relevant ways. Most notably, whole genome sequencing would radically increase the volume and scope of available prenatal genetic data. The wealth of new data could enhance reproductive decision-making, promoting parents’ freedom to make well-informed reproductive decisions. We argue, however, that there is potential for prenatal whole genome sequencing to alter clinical practice in undesirable ways, especially in the short term. We are concerned that the technology could (1) change the norms and expectations of pregnancy in ways that complicate parental autonomy and informed decision-making, (2) exacerbate the deleterious role that genetic determinism plays in child rearing, and (3) undermine children’s future autonomy by removing the option of not knowing their genetic information without appropriate justification.

Special Issues

The Ethical Implications of Social and Behavioral Genomics

March/April 2023, Volume 53, Issue S1

Abstract

In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often-ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science—including genome-wide association studies and polygenic indexes—can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research. SBG research that compares individuals within a group according to a “sensitive” phenotype requires extra attention to responsible conduct and to responsible communication about the research and its findings. SBG research (1) on sensitive phenotypes that (2) compares two or more groups defined by (a) race, (b) ethnicity, or (c) genetic ancestry (where genetic ancestry could easily be misunderstood as race or ethnicity) requires a compelling justification to be conducted, funded, or published. All authors agree that this justification at least requires a convincing argument that a study’s design could yield scientifically valid results; some authors would additionally require the study to have a socially favorable risk-benefit profile.

Looking for the Psychosocial Impacts of Genomic Information

May/June 2019, Volume 49, Issue S1

Abstract

Since the start of the program to investigate the ethical, legal, and social implications (ELSI) of the Human Genome Project in 1990, many ELSI scholars have maintained that genetic testing should be used with caution because of the potential for negative psychosocial effects associated with receiving genetic information. More recently, though, some ELSI scholars have produced evidence suggesting that the original ELSI concerns were unfounded, exaggerated, or, at a minimum, misdirected. At least in the contexts that have been most studied, large negative impacts have not been found in the vast majority of people studied. What might explain the discrepancy between the original hypothesized outcomes and the growing impression that large negative effects appear to be few and far between? And if the original predictions of large negative psychosocial effects were simply wrong, is it time for ELSI researchers to move on? Should genetic testing be routinized, and would it be appropriate to relax or abandon the practice of engaging patients in a process of detailed informed consent before they receive genetic information? To confront those questions, we convened a conference entitled “Looking for the Psychosocial Impacts of Genomic Information” to review what is known about the negative impacts of genetic information on a variety of populations and in multiple medical and social contexts, to explore the implications of the findings, and to consider whether future research might benefit from different methods than have been used to date.

The Ethics of Sequencing Newborns: Reflections and Recommendations

July/August 2018, Volume 48, Issue S2

Abstract

Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self-directed preventive actions tailored to each child’s genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one’s own or one’s child’s future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered.

In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct-to-consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole-exome or whole-genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed.

In a symptomatic newborn, targeted or genome-wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant’s symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome-wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome-wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context.

The Genetics of Intelligence: Ethics and the Conduct of Trustworthy Research Edited

September/October 2015, Volume 45, Issue S1

Abstract

The advent of new technologies has rekindled some hopes that it will be possible to identify genetic variants that will help to explain why individuals are different with respect to complex traits. At least one leader in the development of “whole genome sequencing”—the Chinese company BGI—has been quite public about its commitment to using the technique to investigate the genetics of intelligence in general and high intelligence in particular. Because one needs large samples to detect the small effects associated with small genetic differences in the sequence of those base pairs, to make headway with the new sequencing technologies, one also needs to enlist much larger numbers of study participants than geneticists have enrolled before. In an effort to increase the size of a sample, one team of researchers approached the Center for Talented Youth at Johns Hopkins University. They wanted to gain access to records concerning participants in CTY’s ongoing Study of Exceptional Talent, and they wanted to approach those individuals to see if they would be willing to share samples of their DNA.

We agreed that CTY’s dilemma about whether to give the researchers access to those records raised larger questions about the ethics of research into the genetics of intelligence, and we decided to hold a workshop at The Hastings Center that could examine those questions. Our purpose was to create what, borrowing from Sarah Richardson, we came to call a “transformative conversation” about research into the genetics of general cognitive ability—a conversation that would take a wide and long view and would involve a diverse group of stakeholders, including both people who have been highly critical of the research and people who engage in it. This collection of essays, which grew out of that workshop, is intended to provide an introduction to and exploration of this complex and important area.


From Hastings Center Bioethics Timeline:

1953: The Double Helix of DNA 

James D. Watson and Francis Crick announce they have determined the double-helical structure of DNA, the molecule containing human genetic material. Aided by the crystallographer Rosalind Franklin and Maurice Wilkins, the discovery marked a significant milestone in the history of biology and helped foster modern molecular biology.

1980: Publication of Stephen Jay Gould’s The Mismeasure of Man

Stephen Jay Gould’s book disproved earlier scientific racist studies. Gould also openly criticized psychological testing, such as IQ tests, and the ranking of intelligence.

S. J. Gould, The Mismeasure of Man (New York: W. W. Norton, 1980). https://wwnorton.com/books/The-Mismeasure-of-Man/

1983: Splicing Life

Splicing Life, a report on the social and ethical issues of the genetic engineering in humans, was issued by the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research in 1983, introducing the concept of “genetic engineering” into the biomedical and bioethical lexicon.

https://bioethics.georgetown.edu/documents/pcemr/splicinglife.pdf

1990: Human Genome Project

The U.S. National Institutes of Health and the Department of Energy initiated a $20 billion project in 1990 to sequence and map all human genes, known as the human genome. This project was led from the NIH by James Watson. The project’s aims were to determine the sequence of all the bases in human genome DNA; to map locations of genes for major sections of all human chromosomes; and to produce linkage maps through which inherited traits and genetic diseases can be identified. A nearly complete sequence of the three billion DNA base pairs was published in 2001, and the full sequence was completed and published in April 2003 by the International Human Genome Sequencing Consortium of over 2,000 researchers, with far fewer genes (about 20,000) than surmised. A major component of the Human Genome Project was devoted to the analysis of the ethical, legal, and social implications (ELSI) of the genomic discoveries and recommendations for policy.

https://www.genome.gov/human-genome-project

1998: Celera Genomics Founded

J. Craig Venter founded Celera Genomics in 1998 and with private funding pursued sequencing the human genome. Francis Sellers Collins, the head of the publicly funded Human Genome Project, was pursuing the same goal since the early 1990s. They joined forces after President Bill Clinton and British Prime Minister Tony Blair made a joint declaration in 2000 that all genome information should be free to the public. This announcement led to cooperation between Collins and Venter, and on June 26, 2000, Venter and Collins jointly announced that, after nearly a decade of work, both the public Human Genome Project headed by Collins and Celera Genomics headed by Venter had deciphered essentially all the genes in human DNA. Their reports appeared in 2001.

https://www.nature.com/scitable/topicpage/sequencing-human-genome-the-contributions-of-francis-686/

https://science.sciencemag.org/content/291/5507/1304/

https://www.nature.com/articles/35057062/

2000: Publication of Allen Buchanan, Daniel Brock, Norman Daniels, and Daniel Wikler’s From Chance to Choice: Genetics and Justice

This book addresses the ethical issues underlying the application of genetic technologies to human beings. Probing the implications of the remarkable advances in genetics, the authors ask how these should affect our understanding of distributive justice, equality of opportunity, the rights and obligations of parents, the meaning of disability, and the role of the concept of human nature in ethical theory and practice.

A. Buchanan et al., From Chance to Choice: Genetics and Justice (New York: Cambridge University Press, 2000).

https://www.amazon.com/Chance-Choice-Genetics-Justice/dp/0521669774

2004: California Proposition 71 (California Stem Cell Research and Cares Act)

The Act establishes the sale of general obligation bonds for stem cell research and research facilities. Proposition 71 establishes the California Institute for Regenerative Medicine.

M. T. Longaker, L. C. Baker, H. T. Greely, “Proposition 71 and CIRM—Assessing the Return on Investment,” Nature Biotechnology 25, no. 5 (2007): 513-21.

10.1038/nbt0507-513.

2006: The Cancer Genome Atlas (TCGA)

This cancer genomics program is founded by the National Cancer Institute and the National Human Genome Research Institute to molecularly characterize more than 20,000 primary cancers. The program is intended to improve the diagnosis, treatment, and prevention of cancer.

https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga