Literature DB >> 35659933

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

Paul S Appelbaum1, Wylie Burke2, Erik Parens3, David A Zeevi4, Laura Arbour5, Nanibaa' A Garrison6, Vence L Bonham7, Wendy K Chung8.   

Abstract

The underrepresentation of non-European ancestry groups in current genomic databases complicates interpretation of their genetic test results, yielding a much higher prevalence of variants of uncertain significance (VUSs). Such VUS findings can frustrate the goals of genetic testing, create anxiety in patients, and lead to unnecessary medical interventions. Approaches to addressing underrepresentation of people with genetic ancestries other than European are being undertaken by broad-based recruitment efforts. However, some underrepresented groups have concerns that might preclude participation in such efforts. We describe here two initiatives aimed at meeting the needs of underrepresented ancestry groups in genomic datasets. The two communities, the Sephardi Jewish community in New York and First Peoples of Canada, have very different concerns about contributing to genomic research and datasets. Sephardi concerns focus on the possible negative effects of genetic findings on the marriage prospects of family members. Canadian Indigenous populations seek control over the research uses to which their genetic data would be put. Both cases involve targeted efforts to respond to the groups' concerns; these efforts include governance models aimed at ensuring that the data are used primarily to inform clinical test analyses and at achieving successful engagement and participation of community members. We suggest that these initiatives could provide models for other ancestral groups seeking to improve the accuracy and utility of clinical genetic testing while respecting the underlying preferences and values of community members with regard to the use of their genetic data.
Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2022        PMID: 35659933      PMCID: PMC9247826          DOI: 10.1016/j.ajhg.2022.04.012

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.043


  29 in total

1.  Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.

Authors:  Melissa K Frey; Sarah H Kim; Rebecca Yee Bassett; Jessica Martineau; Emily Dalton; Jing-Yi Chern; Stephanie V Blank
Journal:  Gynecol Oncol       Date:  2015-08-18       Impact factor: 5.482

Review 2.  A systematic review of barriers and facilitators to minority research participation among African Americans, Latinos, Asian Americans, and Pacific Islanders.

Authors:  Sheba George; Nelida Duran; Keith Norris
Journal:  Am J Public Health       Date:  2013-12-12       Impact factor: 9.308

3.  The Illusion of Inclusion - The "All of Us" Research Program and Indigenous Peoples' DNA.

Authors:  Keolu Fox
Journal:  N Engl J Med       Date:  2020-07-30       Impact factor: 91.245

4.  A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.

Authors:  Stephen E Lincoln; Yuya Kobayashi; Michael J Anderson; Shan Yang; Andrea J Desmond; Meredith A Mills; Geoffrey B Nilsen; Kevin B Jacobs; Federico A Monzon; Allison W Kurian; James M Ford; Leif W Ellisen
Journal:  J Mol Diagn       Date:  2015-07-22       Impact factor: 5.568

Review 5.  Prioritizing diversity in human genomics research.

Authors:  Lucia A Hindorff; Vence L Bonham; Lawrence C Brody; Margaret E C Ginoza; Carolyn M Hutter; Teri A Manolio; Eric D Green
Journal:  Nat Rev Genet       Date:  2017-11-20       Impact factor: 53.242

6.  Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling.

Authors:  S Richter; I Haroun; T C Graham; A Eisen; A Kiss; E Warner
Journal:  Ann Oncol       Date:  2013-11       Impact factor: 32.976

Review 7.  Empowering Equitable Data Use Partnerships and Indigenous Data Sovereignties Amid Pandemic Genomics.

Authors:  Rodney C Haring; Jessica W Blanchard; Josephine D Korchmaros; Justin R Lund; Emily A Haozous; Josie Raphaelito; Maui Hudson; Krystal S Tsosie
Journal:  Front Public Health       Date:  2021-11-11

Review 8.  P450 Pharmacogenetics in Indigenous North American Populations.

Authors:  Lindsay M Henderson; Katrina G Claw; Erica L Woodahl; Renee F Robinson; Bert B Boyer; Wylie Burke; Kenneth E Thummel
Journal:  J Pers Med       Date:  2018-02-01

Review 9.  Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers.

Authors:  Vanessa Y Hiratsuka; Michael J Hahn; R Brian Woodbury; Sara Chandros Hull; David R Wilson; Vence L Bonham; Denise A Dillard; Jaedon P Avey; Andrea C Beckel-Mitchener; Juliana Blome; Katrina Claw; Elizabeth D Ferucci; Francine C Gachupin; Armen Ghazarian; Lucia Hindorff; Sonya Jooma; Susan B Trinidad; Jennifer Troyer; Hina Walajahi
Journal:  Genet Med       Date:  2020-08-25       Impact factor: 8.822

10.  Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Authors:  David A Zeevi; Wendy K Chung; Chaim Levi; Sholem Y Scher; Rachel Bringer; Yael Kahan; Hagit Muallem; Rinat Benel; Yoel Hirsch; Tzvi Weiden; Ahron Ekstein; Josef Ekstein
Journal:  Mol Genet Genomic Med       Date:  2021-07-20       Impact factor: 2.183

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