Title |
Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry
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Published in |
Nature Communications, October 2016
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DOI | 10.1038/ncomms12521 |
Pubmed ID | |
Authors |
Michael D. Kessler, Laura Yerges-Armstrong, Margaret A. Taub, Amol C. Shetty, Kristin Maloney, Linda Jo Bone Jeng, Ingo Ruczinski, Albert M. Levin, L. Keoki Williams, Terri H. Beaty, Rasika A. Mathias, Kathleen C. Barnes, Timothy D. O’Connor |
Abstract |
To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in all variant classification sets but one. The source of these correlations is highlighted in more detail by looking at the interaction between filtering criteria and the ClinVar and Human Gene Mutation databases. ClinVar's correlation, representing African ancestry-related bias, has changed over time amidst monthly updates, with the most extreme switch happening between March and April of 2014 (r=0.733 to r=-0.683). We identify 68 SNPs as the major drivers of this change in correlation. As long as ancestry-related bias when using these clinical databases is minimally recognized, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 21 | 49% |
France | 2 | 5% |
Australia | 2 | 5% |
Spain | 2 | 5% |
Russia | 1 | 2% |
Belgium | 1 | 2% |
Tanzania, United Republic of | 1 | 2% |
Mexico | 1 | 2% |
United Kingdom | 1 | 2% |
Other | 0 | 0% |
Unknown | 11 | 26% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 22 | 51% |
Scientists | 19 | 44% |
Science communicators (journalists, bloggers, editors) | 1 | 2% |
Practitioners (doctors, other healthcare professionals) | 1 | 2% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | <1% |
United States | 1 | <1% |
Unknown | 113 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 22 | 19% |
Researcher | 21 | 18% |
Student > Master | 12 | 10% |
Student > Postgraduate | 7 | 6% |
Student > Doctoral Student | 6 | 5% |
Other | 25 | 22% |
Unknown | 22 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 31 | 27% |
Agricultural and Biological Sciences | 21 | 18% |
Medicine and Dentistry | 14 | 12% |
Immunology and Microbiology | 3 | 3% |
Social Sciences | 3 | 3% |
Other | 14 | 12% |
Unknown | 29 | 25% |