ELSIhub Collections

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…

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

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 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…

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…

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…

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…

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…

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…

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…

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…

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…

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,…

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…

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…

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…

“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…

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…

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…

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…

Due to advances in genomic sequencing and…

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…

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…

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…

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…

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…

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-…

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…

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…