ELSIhub Collections are essential reading lists on fundamental or emerging topics in ELSI, curated and explained by expert Collection Editors, often paired with ELSI trainees. This series assembles materials from cross-disciplinary literatures to enable quick access to key information.

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The Evolution of Race and Population Identifiers in Scientific Thought and Practice


Collection Editor(s): Michael Yudell, PhD, MPH , Sebastián Gil-Riaño, PhD , Evelynn Hammonds, PhD

The fields of genetics and genomics are at a historically significant crossroads. After more than a century of criticism concerning the use of racial categories in human biological research (by a litany of natural and social scientists, as well as by scholars in the humanities), the recent…

Dataveillance and Human Rights


Collection Editor(s): Jennifer K. Wagner, J.D., Ph.D.

Nearly 75 years ago, countries agreed to an International Bill of Human Rights, that included, among other fundamental…

Paying for Cures: The Ethics and Economics of Gene Therapies for Rare Diseases


Collection Editor(s): Meghan Halley, PhD, MPH

Rare diseases, most of which have a genetic basis, collectively affect an estimated 300 million individuals worldwide and are associated with significant morbidity and mortality. Although less than 10% of rare diseases currently have an approved therapy, advances in gene and gene-targeted…

The Disability Rights Critique of Technologies that Eliminate Human Genetic Variation


Collection Editor(s): Rosemarie Garland-Thomson, Ph.D.

The development and use of an expanding range of medical technologies that yield genetic information about embryos and fetuses has raised ethical questions about whether and how this increasingly routine set of practices discriminates against people with disabilities. A conversation in the form…

How Do We Diversify Human Genomics Research?


Collection Editor(s): Alice B. Popejoy, PhD

The lack of diversity in human genomics research and reference datasets is a known problem, with real-life consequences, but the path forward remains elusive. Solutions to the problem of sampling bias in human genetics research must begin by understanding the following: 1) historical influences…

Genomics of Education in Education: ELSI Concerns about Genomic Prediction in Educational Settings


Collection Editor(s): Lucas J. Matthews, PhD , Natalie White

Polygenic scores (PGS) for educational traits and outcomes (e.g., math ability, reading ability, and educational attainment) are currently available to the public via direct-to-consumer genetic testing companies, such as GenePlaza. A PGS is a DNA-based genetic predictor in the sense that it…

Human Gene Editing and the Ethics of Enhancement


Collection Editor(s): Eric T. Juengst, PhD

Over the past decade, a new generation of precise and efficient gene editing techniques has brought new urgency and attention to the discussion of the ethics of human enhancement. In 2015, gene editing research in non-viable human embryos signaled that human applications were on the horizon…

Privacy, Security, and Nondiscrimination Best Practices for Direct-to-Consumer (DTC) Genetic Testing Companies


Collection Editor(s): Rachele Hendricks-Sturrup, DHSc, MSc, MA , Christine Lu, PhD, MSc

The completion of the Human Genome Project opened new doors for business enterprise. One such activity is direct-to-consumer (DTC) genetic testing, or genetic testing offered on a service-driven basis, without the need for a clinician or other intermediary. DTC genetic testing has been, and…

Genetics Toolkit: Preventing Misuse of Genetic Science


Collection Editor(s): Robbee Wedow, PhD

The misuse and distortion of genetic science by white supremacists during the 20th century made genetic essentialism, the belief that genes can accurately predict complex behaviors and traits, a foundation of Western thinking. Today, essentialist assumptions remain embedded in US laws, policies…

Biocolonialism and Other “Western”-Centered Bioethical Failures Onto Indigenous Peoples


Collection Editor(s): Krystal S. Tsosie, PhD, MPH, MA

There are complex, historical reasons why global Indigenous peoples have largely not engaged in genetics and genomics research. For example, if we look to the 1990s and early 2000s, global Indigenous peoples expressed concerns related to: 1) the co-optation and…

Ethical Issues Related to Research Uses of Residual Dried Bloodspots from Newborn Screening


Collection Editor(s): Julie Cakici, RN, PhD Candidate , Julia Brown, PhD , Aaron Goldenberg, PhD

Newborn screening for metabolic and genetic disease is arguably one of the greatest public health interventions—notwithstanding some ethical challenges and opportunities for improvement—because it reduces harm caused by treatable congenital disorders through early identification and intervention…

Abortion and the Genetic Counselor: The Impact of Restrictive Legislation on Genetic Counseling Practice


Collection Editor(s): Laura Hercher, M.A., M.S., C.G.C. , Jordan Brown, M.A., M.S., L.G.C.

The first class of genetic counselors graduated with an M.A. from the Sarah Lawrence College in 1971; less than two years later, the Supreme Court decision in Roe v. Wade legalized abortion in all fifty states. In the U.S., the field of reproductive genetic counseling came of age against a…

Addressing Algorithmic Unfairness in Healthcare


Collection Editor(s): Charlotte A. Tschider, J.D., M.A.

Artificial intelligence (AI) healthcare technology can solve our most complex and intransigent health issues. It has the potential to enhance healthcare quality, improve access, reduce cost, and deliver highly personalized care. However, delivering those solutions requires large, historical,…

Ethical Challenges in Obtaining Informed Consent for Genetic/Genomic Research


Collection Editor(s): Lisa S. Parker, PhD

Obtaining informed consent (IC) for genetic/genomic research is complicated because most of the ethical issues associated with genetic research are considerations to be disclosed by researchers and weighed by prospective participants during the consent process. These include complicated…

Ethical and Legal Challenges Posed by the Implementation of AI Applications in the Healthcare Setting


Collection Editor(s): Sara Gerke, Dipl-Jur Univ, MA

Healthcare institutions are implementing artificial intelligence (AI) at a rapid pace. The hope is that AI will improve the quality of care and reduce costs in the long run. However, the deployment of AI in healthcare settings also presents new ethical and legal challenges. For example, AI can…

Neurobehavioral Genetic Testing in Children: How Much Should We Know?


Collection Editor(s): Claire Sathe, MD, JD , Paul S. Appelbaum, MD

Recent advances in genetics have yielded important insights into the etiology of autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Professional societies such as the American Academy of Pediatrics and the American College of Medical Genetics and Genomics now recommend…

Who Are We Now? Genetics, Genomics, and the Question of the Human


Collection Editor(s): Priscilla Wald, Ph.D. , Elizabeth Apple, M.Div

“We used to think our fate was in the stars,” quipped James Watson in a Time magazine piece announcing the Human Genome Project (HGP). “Now we know, in large measure, our fate is in our genes.” Scientific…

How Literature and Film Shape and Reflect Public Attitudes toward Genetics


Collection Editor(s): Jay Clayton, Ph.D.

Powerful works of art enrich our understanding of the issues that matter most in our lives—not least in controversial areas of the biosciences. By exploring the dense cultural networks that shape science and technology, they help us see multiple dimensions of policy issues that might be opaque…

Social Norms in Selective Reproduction: Implications for the Wide Offer of Genetic Screening Technologies


Collection Editor(s): Ainsley J. Newson

The ability to offer genetic information to inform reproductive decisions, for example through reproductive genetic carrier screening, expanded prenatal testing, or preimplantation embryo screening, is increasingly prevalent. A defining feature of such technologies is that they offer information…

Expanded Carrier Screening (ECS): Clinical and Ethical Considerations for Genetic Counseling


Collection Editor(s): Melanie Myers, PhD, MS , Emily Wakefield, MS, CGC, LGC

Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier…

Advancing Ethical Engagement and Benefit Sharing Within International Collaborative Genomic Research Partnerships in Africa


Collection Editor(s): Joseph Ali, JD , Erisa Sabakaki Mwaka, MMed, MSoc, PhD

Due to advances in genomic sequencing and…

Technologies to Operationalize Indigenous Data Sovereignty


Collection Editor(s): Māui Hudson, BHSc, AIT, MHSc, AUT , Stephanie Carroll, DrPH, MPH

Throughout history, data about Indigenous communities, cultures, and territories have been collected and collated through research and surveillance as part of processes of colonisation and assimilation. Settler colonialism occurs not only on the land but also in the academy where the omission of…

Ethical, Legal, and Social Implications (ELSI) of DNA-based Technologies for Disaster Victim Identification (DVI)


Collection Editor(s): Sara H. Katsanis, M.S. , Diana Madden, M.A.

As we mark the 20th anniversary of the attacks on the World Trade Center and Washington, D.C. that occurred on September 11, 2001, we reflect on the pain and loss of the events that shook the entire world, some of us very personally. Here, we also pause to note the progress and missteps that…

Current Legal Challenges to Abortion: Implications for Prenatal Genetics


Collection Editor(s): Ellen Wright Clayton, M.D., J.D. , Marsha Michie, Ph.D.

The ability to examine the health of the fetus has expanded dramatically in the last half century. Most of the time, the news is reassuring. However, prenatal screening and diagnosis detect genetic conditions in a small percentage of cases. Effective prenatal intervention for these conditions is…

Game of Bones: Power, Ethics, and Emerging Technology in Paleogenomics Research


Collection Editor(s): Keolu Fox, PhD

The field of paleogenomics is exploding. More ancient genomes were sequenced in 2019 than in all of history. According to The Economist, in 2018, oil was the most traded global commodity. However, in 2021, the demand for oil was surpassed by the demand for data itself, including…

Realizing the Self-Determination Goals of Indigenous People in Genetics Research


Collection Editor(s): Vanessa Y. Hiratsuka, PhD, MPH

Self-determination and tribal sovereignty are core concepts in the lives and histories of Indigenous Peoples. Within the United States, the peoples of the American…

Empirical Evaluation of Arts-Based Informational Aids for ELSI Issues in the Clinic and Beyond


Collection Editor(s): Gretchen A. Case, PhD, MA , Darian Mikelle Hackney

The rapidly changing science of clinical genetics and the complexity of its associated ethical, legal, and social (ELSI) issues call for novel approaches to information delivery and education of healthcare professionals and the public. Compared to traditional communication methodologies, arts-…

Ethical, Legal, and Social Implications (ELSI) at the Intersection of Genomics and Infectious Disease


Collection Editor(s): Debra JH Mathews, PhD, MA , Sheethal Jose

Scientific and technological advances in the field of genomics have the potential to enable targeted clinical and public health measures to manage infectious disease outbreaks. The convergence of the fields of genomics and public health in the context of infectious disease raises a unique…

Race, Genetics, and Genetics Education


Collection Editor(s): Brian M. Donovan, PhD , Daphne O. Martschenko, PhD

The completion of the Human Genome Project in 2003 opened up the floodgates of genetic data, ushering in rapid technological and scientific change. Today, the decreasing costs of genome sequencing are changing our understandings of human identity, especially racial identity. Yet, the influence…