Tag: single nucleotide polymorphisms

Bioethics Blogs

Introduction: “Bioculturalism: The Why and How of a Promising Medical Anthropological Future” by Jeffrey G. Snodgrass

I’m perplexed by cultural anthropology’s antagonism toward biology, with culture and biology more typically treated as providing alternate and competing, rather than complementary and synergistic, explanations for human functioning. This is particularly strange to me—a practicing cultural anthropologist with a background in molecular biology—when even medical anthropologists fail to account for the role biology plays in shaping human health. Wouldn’t such a consideration enrich our comprehension of the interplay between sociocultural milieus and human bodies?

“Biocultural” anthropologists do now routinely investigate human health and other topics. However, they are a small minority, both within medical anthropology and anthropology more generally. Though small, they are potentially important. To me, this group’s synthetic approach represents one promising future for anthropology, which would be capable of producing more comprehensive explanations for human function (and dysfunction), and in the process bridging divisions both within our discipline and between anthropology and other natural science disciplines.

To sketch a blueprint for such a future, I have invited a group of self-professed “biocultural anthropologists” to address the question, “How might cultural anthropology gain by taking biology more seriously?” Responses to this issue will run in a new series, Bioculturalism, which aims to get anthropologists and closely-related others to talking seriously, and thinking practically, about how this possible anthropological future might unfold, and to what positive ends.

To kick off this series, I respond to this topic myself, which, as you’ll see below, I’ve parsed into five interrelated questions. My response foreshadows themes touched upon by the other contributors. Also today, you’ll hear how Bill Dressler responds to my questions, followed by Emily Mendenhall, Chris Lynn, and Greg Downey every other Monday.

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

Bad news for “intelligence-genes”

Intelligence and its heritability has been a popular topic in scientific communities and public discussions for long. Recent findings give new insight to the debate: one of the largest studies on genetic influence to intelligence and other behavioral traits turned up inconclusive findings, as Nature News reports in a recent article “Smart genes” prove elusive.

Existing literature on candidate gene associations is rich in studies that have been unable to replicate and findings have been based on “wishful thinking and shoddy statistics”. According to an editorial in Behavior Genetics,

it now seems likely that many of the published findings of the last decade are wrong or misleading and have not contributed to real advances in knowledge.

The journal declares it will tighten its publication policy for candidate gene association studies of complex traits: they now recommend direct replication analysis prior publication and rigorous testing of statistical models. By this, they wish to decrease publication of findings brought by mere chance or other kinds of biases.

Especially twin and family studies, which repeatedly have reported a genetic basis for intelligence and behavior, are subjected to critique. The challenge is these studies is the assumption that genetic and environmental effects could be separated, but the case is not so simple.

In contrast to the criticized studies on “candidate genes”, new studies operate with genome-wide association (GWAS) scans of single nucleotide polymorphisms (SNPs) and large samples of persons – the quoted studies included more than 100,000 participants. The GWAS studies to date have not found genome-wide significant SNPs in social-science genetics that replicate consistently, and researchers predict that most reported genetic associations with general intelligence are probably false positives.

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

Predicting Alzheimer’s Disease: Potential Ethical, Legal, and Social Consequences

(This post oriignally appeared, in very slightly different form,  in the Neuroethics Blog on June 17, 2014, here.)

Would you want to know the date and time of your death? Life-Line, the first published fiction by Robert A. Heinlein, one of the giants of 20th century science fiction, explored that question. The story’s protagonist, Hugo Pinero, had invented a machine that could tell precisely when individuals would die, but, as Pinero found to his distress, he could not intervene to change their fates.

Would you want to know whether you would be diagnosed with Alzheimer disease (AD)? This question is rapidly leaving the realm of science fiction; indeed, it already has for some unlucky people. Our ability to predict who will suffer from this evil (and I chose that word carefully) condition is proceeding on several fronts and may already be coming into clinical use.

This post will briefly note the ways in which AD prediction is advancing and what some of the ethical, legal, and social implications of such an ability would be, before asking “should we care?”

Science

Several different techniques are providing information about an individual’s risk of being diagnosed with AD, including genetics, biomarkers, and neuroimaging.

Genetics can predict AD with great confidence for about one person in a thousand. People who carry a mutated version of the PS1 gene (or, much more rarely, mutated versions of the PS2 or APP genes) are nearly certain to be diagnosed with AD, unless they die earlier from something else, and with an early onset version that typically strikes in one’s 40s or 50s.

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

Predicting Alzheimer’s Disease: Potential Ethical, Legal, and Social Consequences

By Henry T. Greely, J.D.


Henry T. (Hank) Greely is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University. He directs the Stanford Center for Law and the Biosciences and the new Stanford Program in Neuroscience and Society  SPINS). He is also a member of the AJOB Neuroscience Editorial Board.

Would you want to know the date and time of your death? Life-Line, the first published fiction by Robert A. Heinlein, one of the giants of 20th century science fiction, explored that question. The story’s protagonist, Hugo Pinero, had invented a machine that could tell precisely when individuals would die, but, as Pinero found to his distress, he could not intervene to change their fates.

Would you want to know whether you would be diagnosed with Alzheimer disease (AD)? This question is rapidly leaving the realm of science fiction; indeed, it already has for some unlucky people. Our ability to predict who will suffer from this evil (and I chose that word carefully) condition is proceeding on several fronts and may already be coming into clinical use.

This post will briefly note the ways in which AD prediction is advancing and what some of the ethical, legal, and social implications of such an ability would be, before asking “should we care?”

Via the BBC


Science

Several different techniques are providing information about an individual’s risk of being diagnosed with AD, including genetics, biomarkers, and neuroimaging.

Genetics can predict AD with great confidence for about one person in a thousand.

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 Conundrum And Genomic Research: Re-Identification And Other Concerns

No matter what the arena — finance, health care, or national security — questions surrounding the provision of personal data are always the same:  how much benefit vs. how much risk?  Who handles these data, and can those individuals be trusted?  How do organizations guard against data misuse?   What are the legal safeguards to protect privacy, and are they sufficient in an era when more data are shared more widely?

Nowhere is the privacy discussion more personal than in genomics, the very hardwiring of our existence.  Genomic data are unique to individuals (or identical twins) and, except for occasional mutations, do not change over a lifetime, thereby rendering disclosures permanent.  Genomic data also have special properties regarding privacy, especially as comprehensive whole genome sequencing becomes the major technique.

The benefits of amassing genomic data in sufficient case numbers for validity and making this knowledge available to an appropriately wide body of expert investigators are extensive. Research derived from genomic databases offers potentially large health payoffs.  Genomics can help scientists predict who will develop a disease (e.g., Huntington’s disease) and tailor treatments.  It also holds the potential to bring about a paradigm shift in how we think about and classify disease; i.e., allowing us to move from the pathology-based approach begun in the late 19th century — which focuses on the progression of disease in a specific organto a biochemical-and genomics-based approach.  This new approach is already being applied to a number of diseases, including certain cancers.

Yet the damage caused by the misuse of genomic data can be irreparable.

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.