Epigenetics and the Autosomal DNA of Human Populations: Clinical Perspectives and Personal Genome Tests

Epigenetics and the Autosomal DNA of Human Populations: Clinical Perspectives and Personal Genome Tests

“Epigenetics and the Autosomal DNA of Human Populations: Clinical Perspectives and Personal Genome Tests”

Article by Anne Marie Fine and Donald N. Yates

The International Journal of Community Diversity, vol. 13 (July 2014), pp. 22-42.

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Although the fields of direct-to-the-consumer DNA testing and genetic counseling have experienced rapid growth in the past five years—providing people with increasingly accurate analyses of their ancestry, admixture, family medical history, and risk factors for disease—the subtle role of epigenetics in heredity has not been comparably exploited in medical research or greatly appreciated by the wider public. The history of DNA testing in the consumer realm reveals a shift from sex-linked testing and easily-traced Y-chromosome and mitochondrial lines of descent to an emphasis on autosomal results, which are more diversified, complex, and determinative. Matches showing ancestral relatedness are now possible to autosomal populations based on forensic science, ethnic strains, and multi-generational markers—such as Native American and Jewish. Epigenetics, defined as the superstructure of genes, are sometimes linked to population genetics to explore the environmental effect upon genes, nutrition, and a host of transgenerational factors in susceptibility to diabetes, cancer, stress, and other diseases or conditions. Specific areas discussed here are the Dutch Hunger Winter Study, methylation, cancer, stress, and environmental toxins (including fungicides and air pollution and neurological diseases). The emerging field of epigenetics—with its emphasis on environment and nutrition—is thus superseding the older model of genetic determinism in dictating people’s health decisions, self-identity, and ways of understanding their individual ancestry and ethnicity.

Keywords: Epigenetics, Autosomal DNA, Methylation, Chromatin Remodeling, Medicine, Longevity Studies, Genealogy