Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-10-11

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, Meher Preethi Boorgula, Monica Campbell, Sameer Chavan, Jean G. Ford, Cassandra Foster, Li Gao, Nadia N. Hansel, Edward Horowitz, Lili Huang, Romina Ortiz, Joseph Potee, Nicholas Rafaels, Alan F. Scott, Candelaria Vergara, Jingjing Gao, Yijuan Hu, Henry Richard Johnston, Zhaohui S. Qin, Badri Padhukasahasram, Georgia M. Dunston, Mezbah U. Faruque, Eimear E. Kenny, Kimberly Gietzen, Mark Hansen, Rob Genuario, Dave Bullis, Cindy Lawley, Aniket Deshpande, Wendy E. Grus, Devin P. Locke, Marilyn G. Foreman, Pedro C. Avila, Leslie Grammer, Kwang-YounA Kim, Rajesh Kumar, Robert Schleimer, Carlos Bustamante, Francisco M. De La Vega, Chris R. Gignoux, Suyash S. Shringarpure, Shaila Musharoff, Genevieve Wojcik, Esteban G. Burchard, Celeste Eng, Pierre-Antoine Gourraud, Ryan D. Hernandez, Antoine Lizee, Maria Pino-Yanes, Dara G. Torgerson, Zachary A. Szpiech, Raul Torres, Dan L. Nicolae, Carole Ober, Christopher O. Olopade, Olufunmilayo Olopade, Oluwafemi Oluwole, Ganiyu Arinola, Wei Song, Goncalo Abecasis, Adolfo Correa, Solomon Musani, James G. Wilson, Leslie A. Lange, Joshua Akey, Michael Bamshad, Jessica Chong, Wenqing Fu, Deborah Nickerson, Alexander Reiner, Tina Hartert, Lorraine B. Ware, Eugene Bleecker, Deborah Meyers, Victor E. Ortega, Maul R. N. Pissamai, Maul R. N. Trevor, Harold Watson, Maria Ilma Araujo, Ricardo Riccio Oliveira, Luis Caraballo, Javier Marrugo, Beatriz Martinez, Catherine Meza, Gerardo Ayestas, Edwin Francisco Herrera-Paz, Pamela Landaverde-Torres, Said Omar Leiva Erazo, Rosella Martinez, Alvaro Mayorga, Luis F. Mayorga, Delmy-Aracely Mejia-Mejia, Hector Ramos, Allan Saenz, Gloria Varela, Olga Marina Vasquez, Trevor Ferguson, Jennifer Knight-Madden, Maureen Samms-Vaughan, Rainford J. Wilks, Akim Adegnika, Ulysse Ateba-Ngoa, Maria Yazdanbakhsh, 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. More... »

PAGES

12521

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms12521

    DOI

    http://dx.doi.org/10.1038/ncomms12521

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1010724934

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/27725664


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