A genetic history of the pre-contact Caribbean.

Humans settled the Caribbean about 6,000 years ago, and ceramic use and intensified agriculture mark a shift from the Archaic to the Ceramic Age at around 2,500 years ago1-3. Here we report genome-wide data from 174 ancient individuals from The Bahamas, Haiti and the Dominican Republic (collectively, Hispaniola), Puerto Rico, Curaçao and Venezuela, which we co-analysed with 89 previously published ancient individuals. Stone-tool-using Caribbean people, who first entered the Caribbean during the Archaic Age, derive from a deeply divergent population that is closest to Central and northern South American individuals; contrary to previous work4, we find no support for ancestry contributed by a population related to North American individuals. Archaic-related lineages were >98% replaced by a genetically homogeneous ceramic-using population related to speakers of languages in the Arawak family from northeast South America; these people moved through the Lesser Antilles and into the Greater Antilles at least 1,700 years ago, introducing ancestry that is still present. Ancient Caribbean people avoided close kin unions despite limited mate pools that reflect small effective population sizes, which we estimate to be a minimum of 500-1,500 and a maximum of 1,530-8,150 individuals on the combined islands of Puerto Rico and Hispaniola in the dozens of generations before the individuals who we analysed lived. Census sizes are unlikely to be more than tenfold larger than effective population sizes, so previous pan-Caribbean estimates of hundreds of thousands of people are too large5,6. Confirming a small and interconnected Ceramic Age population7, we detect 19 pairs of cross-island cousins, close relatives buried around 75 km apart in Hispaniola and low genetic differentiation across islands. Genetic continuity across transitions in pottery styles reveals that cultural changes during the Ceramic Age were not driven by migration of genetically differentiated groups from the mainland, but instead reflected interactions within an interconnected Caribbean world1,8.

Scanning the human genome for "signatures" of positive selection: Transformative opportunities and ethical obligations.

The relationship history of evolutionary anthropology and genetics is complex. At best, genetics is a beautifully integrative part of the discipline. Yet this integration has also been fraught, with punctuated, disruptive challenges to dogma, periodic reluctance by some members of the field to embrace results from analyses of genetic data, and occasional over-assertions of genetic definitiveness by geneticists. At worst, evolutionary genetics has been a tool for reinforcing racism and colonialism. While a number of genetics/genomics papers have disproportionately impacted evolutionary anthropology, here we highlight the 2002 presentation of an elegantly powerful approach for identifying "signatures" of past positive selection from haplotype-based patterns of genetic variation. Together with technological advances in genotyping methods, this article transformed our field by facilitating genome-wide "scans" for signatures of past positive selection in human populations. This approach helped researchers test longstanding evolutionary anthropology hypotheses while simultaneously providing opportunities to develop entirely new ones. Genome-wide scans for signatures of positive selection have since been conducted in diverse worldwide populations, with striking findings of local adaptation and convergent evolution. Yet there are ethical considerations with respect to the ubiquity of these studies and the cross-application of the genome-wide scan approach to existing datasets, which we also discuss.

[Genes for extreme violent behaviour?]. / Encore le « gène du crime ¼ ? - Chroniques génomiques.

A new genetic study focussing on the degree of violence in criminals and using both candidate gene and GWAS approaches finds statistically significant associations of extreme violent behaviour with low activity alleles of monoamine oxydase A (MAOA) and with the CD13 gene. However, the alleles implicated are common in the general population, thus they cannot be causal, and only represent potential indicators of increased risk.

Localized past, globalized future: towards an effective bioethical framework using examples from population genetics and medical tourism.

This paper suggests that many of the pressing dilemmas of bioethics are global and structural in nature. Accordingly, global ethical frameworks are required which recognize the ethically significant factors of all global actors. To this end, ethical frameworks must recognize the rights and interests of both individuals and groups (and the interrelation of these). The paper suggests that the current dominant bioethical framework is inadequate to this task as it is over-individualist and therefore unable to give significant weight to the ethical demands of groups (and by extension communal and public goods). It will explore this theme by considering the inadequacy of informed consent (the 'global standard' of bioethics) to address two pressing global bioethical issues: medical tourism and population genetics. Using these examples it will show why consent is inadequate to address all the significant features of these ethical dilemmas. Four key failures will be explored, namely, • That the rights and interests of those related (and therefore affected) are neglected; • That consent fails to take account of the context and commitments of individuals which may constitute inducement and coercion; • That consent alone does not have the ethical weight to negate exploitation or make an unjust action just ('the fallacy of sufficiency'); • That consent is a single one-off act which is inappropriate for the types of decision being made. It will conclude by suggesting that more appropriate models are emerging, particularly in population genetics, which can supplement consent.

Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network.

Aims: To explore patient experiences in a large-scale primary care-based, preemptive genetic testing program. Methods: Patients who received genetic results from the initiative were invited to participate in an online survey 3 weeks postresult disclosure. A 6-month follow-up survey was sent to assess changes over time. Results: The initial survey was completed by 1646 patients, with 544 completing the 6-month follow-up survey. The following outcomes were high overall: patient-reported understanding of results (cancer: 87%; cardiac: 86%); perceived utility (75%); positive emotions (relieved: 66.8%; happy: 62.0%); family result sharing (67.6%); and satisfaction (87%), although analysis by demographic factors identified groups who may benefit from additional education and emotional support. Results-related health behaviors and discussions with providers increased over time (screening procedures 6.1% to 14.2% p < 0.001; provider discussion 10.3% to 25.3%, p < 0.001), and were more likely to take place for patients with positive cancer and/or cardiac results (39.8% vs. 7.6%, p < 0.001). Forty-seven percent of patients reported insurance discrimination concerns, and most (79.4%) were not familiar with privacy and nondiscrimination laws. Concerns regarding discrimination and negative emotions decreased between the two survey time points (privacy issues 44.6% to 35.1% p < 0.001; life insurance discrimination concerns 35.5% to 29.6%, p = 0.001; anxiety 8.1% to 3.3%, p < 0.001; and uncertainty 19.8% to 12.8%, p < 0.001). These findings led to the development and integration of additional patient resources to improve program implementation. Conclusion: Our findings highlight patient experiences with and areas of need in a community-based genomic screening pilot initiative using a mixed primary care/genetics provider model to deliver precision medicine.

Population genomics and research ethics with socially identifable groups.

In this paper, the author questions whether the research ethics guidelines and procedures are robust enough to protect groups when conducting genetics research with socially identifiable populations, particularly with Native American groups. The author argues for a change in the federal guidelines in substance and procedures of conducting genetic research with socially identifiable groups.

After geneticization.

The concept of geneticization belongs to a style of thinking within the social sciences that refers to wide-ranging processes and consequences of genetic knowledge. Lippman's original use of the term was political, anticipating the onerous consequences of genetic reductionism and determinism, while more recent engagements emphasise the productivity and heterogeneity of genetic concepts, practices and technologies. This paper reconstructs the geneticization concept, tracing it back to early political critiques of medicine. The argument is made that geneticization belongs to a style of constructionist thinking that obscures and exaggerates the essentializing effects of genetic knowledge. Following Hacking's advice, we need a more literal sense of construction in terms of 'assembly' to give a clearer account of the relationship between processes and products. Using the 'assemblage' concept to explore the social ontology of genetics, the paper reviews three areas of the empirical literature on geneticization - disease classification, clinical practice and biosociality - to show that a new style of thinking has appeared within the social sciences. In the final assessment, the conditions that gave rise to geneticization are now obsolete. While it may serve as a useful ritual of debate, conceptually geneticization offers a limited account of the heterogeneity of socio-technical change.

Research integrity and rights of indigenous peoples: appropriating Foucault's critique of knowledge/power.

In this paper I appropriate the philosophical critique of Michel Foucault as it applies to the engagement of Western science and indigenous peoples in the context of biomedical research. The science of population genetics, specifically as pursued in the Human Genome Diversity Project, is the obvious example to illustrate (a) the contraposition of modern science and 'indigenous science', (b) the tendency to depreciate and marginalize indigenous knowledge systems, and (c) the subsumption of indigenous moral preferences in the juridical armature of international human rights law. I suggest that international bioethicists may learn from Foucault's critique, specifically of the need for vigilance about the knowledge/power relation expressed by the contraposition of modern science and 'indigeneity'.

Ethics in population-based genetic research.

Population-based genetic research, including genetic epidemiology, shows tremendous potential to elucidate the role of genes as causal factors in complex and common human diseases. Like all research with human subjects, full realization of these benefits requires careful attention to its ethical conduct, establishing an appropriate balance between individual protections and the advancement of scientific and medical knowledge. This article reviews the growing literature on genetics research and ethics to describe some of the fundamental ethical issues in population-based genetics research, including research design, recruitment and informed consent, and dealing with research results. Its focus is on areas where consensus is forming and where future work is needed.

Racism and human genome diversity research: the ethical limits of "population thinking".

This paper questions the prevailing historical understanding that scientific racism "retreated" in the 1950s when anthropology adopted the concepts and methods of population genetics and race was recognized to be a social construct and replaced by the concept of population. More accurately, a "populational" concept of race was substituted for a "typological one"--this is demonstrated by looking at the work of Theodosius Dobzhansky circa 1950. The potential for contemporary research in human population genetics to contribute to racism needs to be considered with respect to the ability of the typological-population distinction to arbitrate boundaries between racist society and nonracist, even anti-racist, science. I point out some ethical limits of "population thinking" in doing so.

Genomic research and data-mining technology: implications for personal privacy and informed consent.

This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology (ICT) and population genomics research. I begin by briefly examining the ethical, legal, and social implications (ELSI) program requirements that were established to guide researchers working on the Human Genome Project (HGP). Next I consider a case illustration involving deCODE Genetics, a privately owned genetic company in Iceland, which raises some ethical concerns that are not clearly addressed in the current ELSI guidelines. The deCODE case also illustrates some ways in which an ICT technique known as data mining has both aided and posed special challenges for researchers working in the field of population genomics. On the one hand, data-mining tools have greatly assisted researchers in mapping the human genome and in identifying certain "disease genes" common in specific populations (which, in turn, has accelerated the process of finding cures for diseases tha affect those populations). On the other hand, this technology has significantly threatened the privacy of research subjects participating in population genomics studies, who may, unwittingly, contribute to the construction of new groups (based on arbitrary and non-obvious patterns and statistical correlations) that put those subjects at risk for discrimination and stigmatization. In the final section of this paper I examine some ways in which the use of data mining in the context of population genomics research poses a critical challenge for the principle of informed consent, which traditionally has played a central role in protecting the privacy interests of research subjects participating in epidemiological studies.