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• W2904004461 abstract "The under-representation of diverse population groups in genetic studies of alcohol phenotypes has implications for the equitable application of new medical technology for genetic testing and pharmacogenetics. Including individuals with diverse genetic backgrounds in research also provides important opportunities for understanding disease etiology, but requires sensitive collaboration with community partners. The NIH Revitalization Act of 1993, and subsequent policy guidelines on the inclusion of women and racial/ethnic minorities as participants in clinical research, reinforced the principle of inclusion and the importance of active outreach to diverse study populations 1. The concept of social justice reflected in the guidelines is relevant to today's concerns about the paucity of participation by individuals of diverse ancestries in genetic studies 2. Popejoy & Fullerton 3 reviewed genome-wide association studies (GWAS) of many different phenotypes, and found that 81% of participants are of European ancestry (EA). The other 19% are primarily individuals of Asian ancestry (14%), with the remaining 5% of African, mixed, indigenous people, Hispanic and Latin American, Pacific Islander and Arab and Middle Eastern ancestry. The NIH-backed All of Us Research Program is one of several recent initiatives that call for study participants to better represent the diversity of local, national and international populations. Other initiatives to diversify genetic study samples and improve technologies for application in genetically diverse populations include the work conducted by Stanley Global at Broad, H3Africa, the Mexican Genomic Diversity Project 4 and the Multi-Ethnic Global Array Consortium. This diverse body of work illustrates the progress being made. However, more needs to be done in some areas. One such area is the over-representation of participants of EA in genetic studies of alcohol phenotypes. Ancestry data from the NHGRI-EBI GWAS Catalog 5 can be obtained for studies of alcohol consumption and alcohol use disorder. Of those who reported ancestry information, 61% utilized EA-only samples, 14% included only individuals of Asian ancestry and 25% included multiple ancestry groups. Participants of multiple ancestry studies were primarily individuals of European and African descent. This has implications for other studies using these data. A review by Chartier et al. 6 found only 26 studies that examined combined molecular–genetic and environmental effects in non-EA populations. The numbers, whether GWAS studies generally or those examining alcohol phenotypes, do not reflect the diversity of national populations. For example, the United States is projected to become more diverse over the coming decades. American Indians and Alaska Natives, Asians, Blacks or African Americans, Hispanics, Native Hawaiians and other Pacific Islanders and individuals representing two or more groups are expected to comprise 44% of the population in the next 10 years and 56% of the population during the next 40 years 7. It is, of course, important to acknowledge that there are complexities in making this comparison between genetic ancestry groups and race/ethnicity census categories, and language matters in discussing this point (e.g. see Yudell et al. 8). Nonetheless, the contrast between the increasing population diversity and the under-representation of many ancestry groups in genetic research raises great concern. This point has been made by numerous others, e.g. Oh et al. 9, and is worth repeating: it is both ethical and just to ensure that any medical advances achieved by this research are applicable and available to all. One consequence of the knowledge gap among ancestries could be that genetic tests are less effective in some population groups. This is because genotypes with low frequencies, which are more likely to be under negative selection and pathogenic, are not well characterized in individuals of non-European descent 10. This also has implications for the application of pharmacological treatments. Hovelson et al. 11 showed that more than 600 population-specific and potentially deleterious ADME genetic variants (i.e. those associated with drug absorption, distribution, metabolism and excretion) were not on commercially available genotyping arrays. These arrays were designed based on variants observed in EA populations and with less regard for variants observed at higher frequencies in other populations. Genetic variation also contributes to heterogeneity in drug response for such conditions as asthma 12 and hypertension 13, and often differs significantly in frequency between ancestry groups. Cservenka et al. 14 describe the critical need for pharmacogenetic research on the efficacy of medications for alcohol use disorder in individuals of different ancestries, as prior studies seldom include participants of non-European descent. Broadening representation in pharmacogenetic research is key to ensuring personalized care at the individual genome-level. The inclusion of individuals with diverse genetic backgrounds is not simply remedial. It also offers important opportunities. Researchers have successfully leveraged ancestry differences in allele frequencies for scientific discovery. For example, Cohen et al. 15 identified two variants in PCSK9 that are more common in individuals of African descent. This discovery led to the development of a new class of drugs for lowering low-density lipoprotein (LDL) cholesterol. Studying diverse groups also allows for a more complete understanding of human genetic variation and disease etiology. A GWAS in Hispanic and Latin ancestry participants, a population that experiences a high burden of type II diabetes, identified risk variants in SLC16A11 associated with a more than 20% increased risk of type II diabetes 16. These variants are common in Native American ancestry groups, rare in EA and African ancestry groups and intermediate in Asian ancestry groups. Differences in genetic linkage structures across ancestries offer an additional opportunity. Rosenberg et al. 17 show how populations with lower linkage disequilibrium (i.e. shorter distances of correlated genotypes) can help to localize causal variants for disease, and there are added benefits when concurrently using multiple populations to fine-map causal variants 18. To be clear, these are not new examples. However, the hope here is that, by inserting them into the dialog on diversity in genetic research on alcohol phenotypes, there will be a call to action. New, large and well-phenotyped samples of participants of diverse ancestries are needed, as well as continued advancements in genomic technologies and computational methods for utilizing genetic data of multiple populations. This will require investment, not only in terms of funding priorities for genetic studies that utilize diverse samples, but also the work required to authentically partner with under-represented communities 19. This research makes many people nervous, and rightfully so, given past research that has violated the trust of diverse communities. Therefore, discussions on race/ethnicity and genetic ancestry should include researchers and community partners together. None. I am thankful to my colleagues, Drs Denise Scott, Elizabeth Prom-Wormley and Alexis Edwards, for reading an early draft of this editorial and offering their valuable perspectives on the topic. This work was partially funded by the National Institute on Alcohol Abuse and Alcoholism (K01 AA021145) and through support from the VCU Presidential Quest Fund." @default.
• W2904004461 created "2018-12-22" @default.
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• W2904004461 date "2019-01-20" @default.
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• W2904004461 title "The paucity of genetic studies of alcohol phenotypes in diverse populations: what are the consequences and opportunities?" @default.
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