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BMC Medical Genomics

, 10:3

Prognostics and diagnostics-biomarkers


BackgroundIt 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 textWe 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.

ConclusionWe 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.

KeywordsDirect-to-consumer genetic tests Genetic ancestry Disease-Health risk Regulation Social implications Public understanding AbbreviationsASHGAmerican Society of Human Genetics

CADCoronary artery disease

CMEContinuing medical education

FDAFood and Drug Administration

mtDNAMitochondrial DNA

PGSPersonal genome service

ROSReactive oxygen species

Electronic supplementary materialThe online version of this article doi:10.1186-s12920-016-0240-3 contains supplementary material, which is available to authorized users.

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Autor: Andrew Smart - Deborah A. Bolnick - Richard Tutton


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