Combating Racial Health Disparities through Medical Education: The Need for Anthropological and Genetic Perspectives in Medical Training

Despite major public health initiatives, significant disparities persist among racially and ethnically defined groups in the prevalence of disease, access to medical care, quality of medical care, and health outcomes for common causes of morbidity and mortality in the United States. It is critical that we develop new and creative strategies to address such inequities; mitigate the social, environmental, institutional, and genetic determinants of poor health; and combat the persistence of racial profiling in clinical contexts that further exacerbates racial/ethnic health disparities. This article argues that medical education is a prime target for intervention and that anthropologists and human population geneticists should play a role in efforts to reform US medical curricula. Medical education would benefit greatly by incorporat- ing anthropological and genetic perspectives on the complexities of race, human genetic variation, epigenetics, and the causes of racial/ethnic disparities. Medical students and practicing physicians should also receive training on how to use this knowledge to improve clinical practice, diagnosis, and treatment for racially diverse populations

Ancient DNA from Early Human Burials in the Argentine Puna: Insights into Burial Practices and South American Population History

Although the earliest archaeological sites in South America date to the late Pleistocene, little is known about the genetic makeup or mortuary behavior of early hunter-gatherer populations in South America. To help shed light on the burial practices of these hunter-gatherers, as well as the early population history of this region, we extracted ancient DNA from the remains of 13 individuals excavated from early and mid-Holocene archaeological sites in the southern Argentine Puna. These remains are from four locations in the Antofagasta de la Sierra region of northwestern Argentina, and date between 9200 and 3200 YBP. We sequenced 372 base pairs of the first hypervariable region of the mitochondrial DNA to define maternally-inherited genetic lineages, and analyzed a length dimorphism in the amelogenin gene to investigate the sex of each individual. We found that maternally related individuals were sometimes buried together, and several individuals exhibited a mtDNA lineage that is rare in indigenous American populations today. Our results shed light on the early population history of this region and help elucidate the genetic affinities between the prehistoric inhabitants of the Puna and other regions in South America.Fil: Bolnick, Deborah A.. Austin Community College; Estados UnidosFil: Pintar, Elizabeth. Austin Community College; Estados UnidosFil: Martinez, Jorge Gabriel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Estudios Sociales. Universidad Nacional de Tucumán. Instituto Superior de Estudios Sociales; ArgentinaFil: Díaz Matallana, Marcela. Pontificia Universidad Javeriana; ColombiaFil: Mata Miguez, Jaime. University of Texas at Austin; Estados Unidos79th Meeting for the Society for American ArchaeologyAustinEstados UnidosSociety for American Archaeolog

Chaco Canyon Dig Unearths Ethical Concerns

The field of paleogenomics (the study of ancient genomes) is rapidly advancing with more robust methods of isolating ancient DNA and increasing access to next-generation DNA sequencing technology. As these studies progress, many important ethical issues have emerged that should be considered when ancient Native American remains, whom we refer to as ancestors, are used in research. We highlight a recent article by Kennett et al. (2017), “Archaeogenomic evidence reveals prehistoric matrilineal dynasty,” that brings several ethical issues to light that should be addressed in paleogenomics research (Kennett et al. 2017). The study helps elucidate the matrilineal relationships in ancient Chacoan society through ancient DNA analysis. However, we, as Indigenous researchers and allies, raise ethical concerns with the study’s scientific conclusions that can be problematic for Native American communities: (1) the lack of tribal consultation, (2) the use of culturally-insensitive descriptions, and (3) the potential impact on marginalized groups. Further, we explore the limitations of the Native American Graves Protection and Repatriation Act (NAGPRA), which addresses repatriation but not research, as clear ethical guidelines have not been established for research involving Native American ancestors, especially those deemed “culturally unaffiliated”. As multiple studies of culturally unaffiliated remains have been initiated recently, it is imperative that researchers consider the ethical ramifications of paleogenomics research. Past research indiscretions have created a history of mistrust and exploitation in many Native American communities. To promote ethical engagement of Native American communities in research, we therefore suggest careful attention to the ethical considerations, strong tribal consultation requirements, and greater collaborations amongst museums, federal agencies, researchers, scientific journals, and granting agencies

Response to "The Legitimacy of Genetic Ancestry Tests"

Anthropolog

Health and genetic ancestry testing:time to bridge the gap

Background: It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing. Main text: We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding. Conclusion: We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information

Detecting methylation of cytosine residues and their deamination products.

<p>5-mc: 5-methylcytosine; 5-hmc: 5-hydroxymethylcytosine; 5-ms: 5-methylenesulfonate; 5-hmu: 5-hydroxymethyluracil; NaHSO₃: Sodium bisulfite. (<i>A</i>) Unmethylated cytosines are converted to uracil at high efficiency by bisulfite conversion and at low efficiency by post-mortem deamination. After conversion, no methylation is detected by either bisulfite sequencing or misincorporation analysis. (<i>B</i>) Methylated cytosines are unaffected by bisulfite conversion, while post-mortem deamination converts methylated cytosines to thymines. Methylation is detected by the presence of undamaged cytosines in bisulfite sequencing, and by the presence of thymines at damaged positions in misincorporation analysis. (<i>C</i>) Hydroxymethylated cytosines are converted to cytosine 5-methelensulfonate by bisulfite conversion, and 5-hydroxymethyluracil by post-mortem deamination. Methylated cytosines are detected at undamaged positions by bisulfite sequencing, but cannot be discriminated from non-hydroxylated methylcytosines using this method. It is currently unclear whether misincorporation analysis will be able to detect methylation in the form of 5-hydroxymethyluracil, but the UDG-endoVIII approach may be able to do so.</p

Provenience and Specifications for the Ancient Human Samples.

<p>GITC: Guanidinium thiocyanate.</p><p>*Probable linguistic affiliation based on archaeological inference</p><p>Provenience and Specifications for the Ancient Human Samples.</p