Tag: genetic variation

Bioethics Blogs

Transferring Embryos with Genetic Anomalies

Jackie Leach Scully argues that respect for equality and diversity, and not just respect for the parental autonomy and the welfare of the future child, should inform policies governing the use of preimplantation genetic diagnosis.

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The Ethics Committee of the American Society for Reproductive Medicine recently published an Opinion on “Transferring embryos with genetic anomalies detected in preimplantation testing.” The Opinion aims to help providers deal with the rare but ethically difficult situation when prospective parents want to transfer embryos with a known genetic anomaly that is linked to a serious health-affecting disorder.

Preimplantation genetic diagnosis (PGD) is typically used by couples to avoid transferring a genetic anomaly to their children. Using PGD to ensure the transfer of a genetic anomaly, rather than avoid it, seems deeply counter-intuitive. Yet, there are several scenarios where this might happen. For example, this might be a reasonable option when the only transferable embryos carry the genetic anomaly, or when the embryos carry a different, but potentially just as serious, genetic variation.

The most problematic cases, however, occur when prospective parents express an actual preference for children with ‘their’ genetic condition – an anomalous condition that others perceive in negative terms. It’s an uncommon situation, but despite its rarity steps have been taken to block attempts by prospective parents to ‘choose disability’, such as the UK’s legislation on reproductive medicine. The legislation prohibits the use of an embryo (or gamete, in the case of egg and sperm donation) that has a genetic anomaly “involving a significant risk” of “a serious physical or mental disability, serious illness, or a serious medical condition” unless there are no other unaffected embryos or gametes that could be used instead.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Responsibility in the age of precision genomics

by Alexa Woodward

Alexa is a fellow in the Precision Medicine: Ethics, Policy, and Culture project through Columbia University’s Center for the Study of Social Difference. The following is her reflection on the ongoing discussion around the Precision Medicine Initiative that has been the subject of recent political, social, and popular media attention. A recent presentation by Sandra Soo-Jin Lee, PhD, from the Center for Biomedical Ethics at Stanford University spurred our multi-disciplinary discussion of some of the following themes.

What is normal, anyway?

Genetically speaking, that’s precisely the question that the Obama administration’s Precision Medicine Initiative (PMI) seeks to answer. In recruiting and collecting comprehensive genetic, medical, behavioral, and lifestyle data from one million Americans, the scientific and medical communities will be better able to understand what constitutes normal genetic variation within the population, and in turn, what amount of variation causes or contributes to disease or disease risk.[1] Using this data, researchers could potentially create tailored approaches for intervention and treatment of an incredible range of diseases.

The PMI has a secondary aim: to increase the representation of previously underrepresented populations in research – primarily African Americans and Hispanics/Latinos. Inclusion of these groups in research has been a challenge for decades, with lack of access, distrust in the medical and research systems, and institutionalized racism all playing exclusionary roles. More broadly, outside of the government initiative, the promise of precision medicine ultimately seeks to alleviate disparities by finding and addressing supposed genetic differences, and empowering people with information to take responsibility for their health.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Genetic Fingerprints and National Security

by Beau P. Sperry, Megan Allyse & Richard R. Sharp

Biometric surveillance is rapidly becoming an integral component of national security policy and practice. Biometric surveillance can include fingerprinting, facial and voice recognition, and iris scans. In 2002, in response to the September 11th attacks, the United States passed the Enhanced Border Security and Visa Entry Reform Act, which requires visa applicants to submit ten fingerprints to a national security database. Japan has been collecting fingerprints from its visitors since 2007 and many European nations are following suit, including the United Kingdom. Singapore began fingerprinting visitors in 2016, while the United Arab Emirates has gone a step further and now collects iris scans. Across the globe, national biometric databases are expanding, such as India’s Aadhaar program, which has gathered fingerprints and iris scans on more than one billion Indian citizens.

In recent years, countries like Kuwait have expanded biometric surveillance to include genetic data. In 2015, the Kuwaiti government enacted a law mandating the collection and retention of DNA samples from all citizens, residents, and travelers to Kuwait. The law was passed in response to a suicide bombing at a Shia mosque in Kuwait City that killed twenty-seven individuals and wounded 227 more. The goal of the law is to support national efforts to identify terrorists and to provide a resource for the identification of human remains in the aftermath of a major terrorist attack. Such laws signal increasing awareness of the potential utility of DNA analysis in national surveillance and security activities.

Unlike other identification methods, DNA provides a unique, unalterable, and easily obtained means of identification: even a small buccal swab can provide identifiable DNA for years.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

The privacy debate over research with your blood and tissue

Many people don’t realize that their leftover tissue, blood or other samples – otherwise known as “biospecimens” – taken during a visit to the doctor or hospital might be stripped of identifying information and used in research without their consent.

This makes some people uncomfortable.

So when the federal government decided to revise its “Common Rule” regulations governing federally funded research involving humans for the first time in decades, the draft revision included a proposal to require consent for all research with biospecimens, whether they have identifying information accompanying them or not. The original regulations required a person’s consent for research with biospecimens only if they had information with them that made them identifiable.

But when the updated Common Rule was released on Jan. 18, there was no change to this part of the regulation.

Human research regulations need to keep up with major advances in technology. They also need to balance enabling scientific progress with attempting to ensure safety and privacy for human participants in research.

So why wasn’t the proposal requiring consent for all biospecimen research adopted, and how do the new regulations recognize people’s concern in what happens to pieces of themselves in the future?

Research with nonidentified biospecimens doesn’t require consent.
Blood vials via www.shutterstock.com

Why we need human biospecimens for research

Exciting new research projects, like the Precision Medicine Initiative (PMI), aim to personalize medical interventions and therapies for things like cancer care.

But knowing how to personalize treatment requires comparing data from thousands of biospecimens to discover the relationship between genetic variation, health behaviors and medical outcomes.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Collaborative Science on Historically Burdened Concepts: Intelligence, Genetics, Race & Socio-economic Status

Image via Wikimedia: “Lithograph of a North American skull from Samuel Morton’s Crania Americana, 1839. Morton believed that intelligence was correlated with brain size and varied between racial groups”.

Charged Words

Intelligence is a highly charged word with ties to racist, classist, and eugenic narratives. In the United States, it has been used historically to assert and establish racial and class hierarchies, especially those between Blacks and Whites, and has long been linked to notions of biological difference.

In the early twentieth century, these notions were frequently explicit. As one example among many, Princeton psychologist Carl Campbell Brigham, creator of the SAT and member of the Advisory Council of the American Eugenics Society, wrote in 1922:

According to all evidence available…American intelligence is declining, and will proceed with an accelerating rate as the racial admixture becomes more and more extensive…There is no reason why legal steps should not be taken which would insure a continuously progressive upward evolution… The steps that should be taken to preserve or increase our present intellectual capacity must of course be dictated by science. (Brigham, 1922: 210)

Even in the years following World War Two, when overt claims of racial differences in intelligence were often muted, Nobel Laureate (in physics) William Shockley could openly argue:

I sincerely and thoughtfully believe that attempts to demonstrate that American Negro shortcomings are preponderantly hereditary is the action most likely to reduce Negro agony in the future… I propose a serious scientific effort to establish by how much the distribution of hereditary potential for intelligence of our black citizens falls below whites…If those Negroes with the fewest Caucasian genes are in fact the most prolific and also the least intelligent, then genetic enslavement will be the destiny of their next generation.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Maurizio Meloni’s “Political Biology: Science and Social Values in Human Heredity from Eugenics to Epigenetics” by Alan Goodman

Political Biology: Science and Social Values in Human Heredity from Eugenics to Epigenetics

Maurizio Meloni

Palgrave MacMilllan, 2016, 284 pages

 

In Political Biology, Maurizio Meloni, one of our most insightful social theorists of contemporary biology, guides us through heredity from the second half of the nineteenth century, through the twentieth “century of the gene” (Keller, 2000) and into the twenty-first century and the epigenetic present. Meloni expertly maps the consolidation of the paradigm of “hard heredity” that dominates most of the twentieth century. The book invites us to explore the surprising postgenomic world: that is, the world of science that begins roughly after the completion of the Human Genome Project, a period marked by the everyday sequencing of genomes and, of most significance, the opening up of the genome and an increasing appreciation of the complexities by which genetic sequences relate to phenotypes.

Meloni, Senior Research Fellow in the Department of Sociological Studies at the University of Sheffield (UK), examines, on one level, how biological heredity “became modern” when the notion of the gene as controlling fundamental biological processes cemented into the dominant paradigm of biology. On a second level, Meloni investigates the implications of the rise, transformations, and potential decline of hard heredity for social life and political thought. He asks “What sorts of citizenship, personhood, politics and governmentality” are to be found with hard and soft heredity? (ix). What are the connections between views of heredity (and degrees of determinism) and political systems? And on a third level, Meloni highlights the epistemological split between the natural sciences and the social sciences that also became institutionalized during the twentieth century.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Will Research on 10,000 New Yorkers Fuel Future Racial Health Inequality?

Image via Flickr

By Celia B. Fisher, Ph.D.

A 20-year, multi-million dollar study of more than 10,000 New Yorkers scheduled to begin next year claims that it will enable the development of theories, therapeutics, and policies to improve the health and quality of human life.  Although still in the planning stages, the breadth of the data collection proposed (including health habits, biological data, and geospatial mapping) combined with the lack of detail accompanying such a widespread publicity effort raises questions regarding the extent to which the research risks of such an endeavor has been well thought out.

Along with the contributions that such a large-scale study can make to understanding of the intersecting roles of biological and social factors influencing physical and mental health across the lifespan, comes the potential to widen existing health disparities. The National Institutes of Health’s current emphasis on funding for genetic and neurological factors as major explanatory frameworks runs the risk of reinforcing negative social stereotypes about individual and family characteristics that may inadvertently serve to maintain entrenched health inequities based on class and race/ethnicity long after the study is completed.

To be sure, the economic, racial, cultural, and ethnic diversity of New York City offers an opportunity for health research that can improve health outcomes for all New Yorkers. However, there is growing consensus that broadly worded racial/ethnic classifications to describe research populations, even if based on participant’s self-identifications, is an inaccurate and insufficient measure of genetic variation and an inadequate stand-in for unmeasured social, cultural, and economic contextual factors that play a powerful role in health disparities.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

One of the Fastest Growing Fields in Science Still Makes a Lot of People Very Uncomfortable

July 25, 2016

(Quartz) – This week, Robert Plomin, professor of behavioral genetics at King’s College London, published a paper showing that a child’s educational success can be predicted by their genes. Genetic data from 20,000 DNA variants across several genes collectively account for 10% of the differences in children’s educational achievement age 16. At the most extreme ends of this genetic variation is an entire exam grade difference—from A to B grade for those with the highest polygenic score, to B to C grade for those with the lowest.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

Center of Excellence in ELSI Research

The National Human Genome Research Institute of the National Institutes of Health (NIH) has awarded the Johns Hopkins Berman Institute of Bioethics a “Center of Excellence” grant to study the ethical, legal and social implications (ELSI) of applying genomics to research on, and the prevention and treatment of, infectious disease.  This builds on three years of work of an exploratory Center of Excellence in ELSI Research (CEER) at the Berman Institute, the first such project to focus attention on genomic ELSI issues in the context of infectious disease.

 

The new grant establishes the Johns Hopkins program as a Specialized CEER, with over $4 million in funding over four years. Only seven other such centers have been established across the country. The CEER brings together a multidisciplinary team from across Johns Hopkins University and Johns Hopkins Medicine, led by co-principal investigators Gail Geller, ScD, MHS and Jeffrey Kahn, PhD, MPH of the Berman Institute.

 

Infectious diseases account for a significant proportion of illness and death worldwide. “Recent research has suggested that a person’s genes can play a significant role in the susceptibility to infection, its severity and transmissibility, and the response to treatment,” Geller notes.

 

“The promise of applying genomic information to the prevention and treatment of disease is driving the NIH’s Precision Medicine Initiative, and there are important benefits to be realized in the application of the tools of precision medicine to infectious disease, but also unique ethical, legal, and policy issues,” Kahn says.

 

The Johns Hopkins CEER team members include experts in genomics, immunology and infectious disease, bioethics, epidemiology, public health preparedness, education, and health policy, in keeping with the intention that CEERs create opportunities for transdisciplinary research.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Disentangling Alzheimer’s, Dementia, and Aging

Katie Aubrecht shares her thoughts on Alzheimer’s, dementia, and aging as these intersect with The Alzheimer Conundrum: Entanglements of Dementia and Aging.

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The World Health Organization and Alzheimer Disease International published Dementia: A Public Health Priority (2012) that highlights the global prevalence of Alzheimer’s disease and other dementias. The report projects that the number of people living with dementia worldwide will triple by the year 2050. It also calls on governments to recognize dementia as “an increasing threat to global health” – a threat that requires a global response. As well, the report explains why dementia is such a problem – because it is a burden that will only get worse over time. Who is dementia a threat to? And, who is it a burden for? The answer seems to be “everyone”: individuals living with dementia, their families, friends and communities, entire countries, and even the world.

Two years before this report was published, the Alzheimer Society of Canada published Rising Tide: The Impact of Dementia on Canadian Society. This report called on Canadians to challenge governments to take action and redirect investments to where they could have the greatest impact. To this day, there is no national dementia care strategy in Canada. Meanwhile, dementia care remains an issue of importance to Canadians and health researchers, policy makers, and practitioners. This was evident in the focus on dementia at the 2015 Canadian Academy of Health Sciences forum, The Rising Tide of Dementia in Canada: Facing the Critical Challenge by 2025. Meanwhile, in June 2015 Nova Scotia introduced a dementia care strategy, Towards Understanding.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.