Tag: snps

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

Biomedical enhancement and the need for more precise conceptions

Much of the discussion about biomedical enhancements is about arguing whether some biomedical enhancement would, or would not be a good, ethical, or efficient means for enhancing a particular human characteristic. In this blog and in other bioethical literature bioethicists discuss the proposed effects that biomedical enhancements would have, for example, to intelligence and other cognitive capacities, empathy, sunny mood, altruism, sense of justice, or to halting climate change. The list is extensive and endless. The discussion on efficacy, ethics, justice, and human nature is an important part of the whole philosophical debate, as is the discussion about the limits of philosophy, reality, and science fiction. However, an important point that might be in need of emphasis would be to take under inspection the very concepts that are the target of enhancement. What do intelligence, sunny mood, altruism, sense of justice, and the-characteristics-that-prevents-us-halting-climate-change really mean?

If the target characteristics are looked at carefully, it seems that much of the discussion can be described as a form of language bewitchment where conceptions of the human language and conceptions of the empirical science of biology are mixed. Just because the human language includes conceptions such as intelligence, altruism, sunny mood, criminal, and sense of justice, it does not mean that there would be any corresponding concrete physical entities to these conceptions.

The studies on behaviour genetics that are related to certain characteristics do not tell about “intelligence genes” or “criminal genes.” They tell how certain SNPs are distributed among a certain population or group of people. The result, then, tells a correlation showing that a certain biomarker might be more prevalent among people whom we have attributed a conception of human language.

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

Genetic Testing For All: Is It Eugenics?

In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA mutations, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses from DNA in the maternal bloodstream.

Are these efforts the leading edge of a new eugenics movement? It might appear that way, but I think not.

When I began providing genetic counseling 30 years ago at CareNet, a large ob/gyn practice in Schenectady, NY, few patients were candidates for testing: pregnant women of “advanced maternal age” (35+), someone with a family history of a single-gene disorder or whose ethnic background was associated with higher prevalence of a specific inherited disease. Their risks justified the cost and potential dangers of the tests.

Now the picture is rapidly changing as plummeting DNA sequencing costs and improved technologies are removing economics from the equation. It’s becoming feasible to test anyone for anything – a move towards “pan-ethnic” genetic screening that counters the “sickle-cell-is-for-blacks and cystic-fibrosis-is-for-whites” mindset.

So here’s a look at three very different types of genetic tests that are poised to make the leap to the general population. And despite new targets revealed with annotation of human genomes, some of the detection technologies themselves are decades old.

#1: CARRIER SCREENING

Population screening for carriers of single-gene diseases has been around since those for sickle cell disease and Tay-Sachs disease in the early 1970s. We learned a lot from their starkly different results. For years, labs such as Athena Diagnostics, the Baylor College of Medicine Medical Genetics Laboratories, Emory Genetics Laboratory, Ambry Genetics, GeneDx and others have added genetic tests to their rosters, which now cover hundreds of single-gene diseases, from A (Alport syndrome) to Z (Zellweger syndrome).

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.