Literature DB >> 35755401

A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research.

Timothy R Rebbeck1, John F P Bridges1, Jennifer W Mack1, Stacy W Gray1, Jeffrey M Trent1, Suzanne George1, Norah L Crossnohere1, Electra D Paskett1, Corrie A Painter1, Nikhil Wagle1, Miria Kano1, Patricia Nez Henderson1, Jeffrey A Henderson1, Shiraz I Mishra1, Cheryl L Willman1, Andrew L Sussman1.   

Abstract

IMPORTANCE: Research into the genetic and genomic ("genomics") foundations of disease is central to our understanding of disease prevention, early detection, diagnostic accuracy, and therapeutic intervention. Inequitable participation in genomics research by historically excluded populations limits the ability to translate genomic knowledge to achieve health equity and ensure that findings are generalizable to diverse populations. OBSERVATIONS: We propose a novel framework for promoting diversity, equity, and inclusion in genomics research. Building on principles of community-based participatory research and collective impact frameworks, the framework can guide our understanding of the social, cultural, health system, policy, community, and individual contexts in which engagement and genomics research are being done. Our framework highlights the involvement of a multistakeholder team, including the participants and communities to be engaged, to ensure robust methods for recruitment, retention, return of genomic results, quality of engagement, follow-up, and monitoring of participants. CONCLUSIONS AND RELEVANCE: The proposed engagement framework will guide investigators in optimizing equitable representation in research and enhancing the rigor of genomics investigation.

Entities:  

Mesh:

Year:  2022        PMID: 35755401      PMCID: PMC9223088          DOI: 10.1001/jamahealthforum.2022.0603

Source DB:  PubMed          Journal:  JAMA Health Forum        ISSN: 2689-0186


  35 in total

Review 1.  Clinical use of current polygenic risk scores may exacerbate health disparities.

Authors:  Alicia R Martin; Masahiro Kanai; Yoichiro Kamatani; Yukinori Okada; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2019-03-29       Impact factor: 38.330

Review 2.  Strategies for implementing implementation science: a methodological overview.

Authors:  Margaret A Handley; Anuradha Gorukanti; Adithya Cattamanchi
Journal:  Emerg Med J       Date:  2016-02-18       Impact factor: 2.740

3.  Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

Authors:  Gail P Jarvik; Laura M Amendola; Jonathan S Berg; Kyle Brothers; Ellen W Clayton; Wendy Chung; Barbara J Evans; James P Evans; Stephanie M Fullerton; Carlos J Gallego; Nanibaa' A Garrison; Stacy W Gray; Ingrid A Holm; Iftikhar J Kullo; Lisa Soleymani Lehmann; Cathy McCarty; Cynthia A Prows; Heidi L Rehm; Richard R Sharp; Joseph Salama; Saskia Sanderson; Sara L Van Driest; Marc S Williams; Susan M Wolf; Wendy A Wolf; Wylie Burke
Journal:  Am J Hum Genet       Date:  2014-05-08       Impact factor: 11.025

Review 4.  Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities.

Authors:  Caren E Smith; Stephanie M Fullerton; Keith A Dookeran; Heather Hampel; Adrienne Tin; Nisa M Maruthur; Jonathan C Schisler; Jeffrey A Henderson; Katherine L Tucker; José M Ordovás
Journal:  Health Aff (Millwood)       Date:  2016-08-01       Impact factor: 6.301

5.  Engaging Patients in Precision Oncology: Development and Usability of a Web-Based Patient-Facing Genomic Sequencing Report.

Authors:  Ilana B Solomon; Sarah McGraw; Jenny Shen; Adem Albayrak; Gil Alterovitz; Melanie Davies; Catherine Del Vecchio Fitz; Rachel A Freedman; Lisa N Lopez; Lynette M Sholl; Eliezer Van Allen; Joanne Mortimer; Marwan Fakih; Sumanta Pal; Karen L Reckamp; Yuan Yuan; Stacy W Gray
Journal:  JCO Precis Oncol       Date:  2020-04-14

6.  The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research.

Authors:  Corrie A Painter; Esha Jain; Brett N Tomson; Michael Dunphy; Rachel E Stoddard; Beena S Thomas; Alyssa L Damon; Shahrayz Shah; Dewey Kim; Jorge Gómez Tejeda Zañudo; Jason L Hornick; Yen-Lin Chen; Priscilla Merriam; Chandrajit P Raut; George D Demetri; Brian A Van Tine; Eric S Lander; Todd R Golub; Nikhil Wagle
Journal:  Nat Med       Date:  2020-02-10       Impact factor: 53.440

7.  Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk.

Authors:  Douglas E Levy; Stacey D Byfield; Catherine B Comstock; Judy E Garber; Sapna Syngal; William H Crown; Alexandra E Shields
Journal:  Genet Med       Date:  2011-04       Impact factor: 8.822

8.  Racial Differences in Genomic Profiling of Prostate Cancer.

Authors:  Brandon A Mahal; Mohammed Alshalalfa; Kevin H Kensler; Ilkania Chowdhury-Paulino; Philip Kantoff; Lorelei A Mucci; Edward M Schaeffer; Daniel Spratt; Kosj Yamoah; Paul L Nguyen; Timothy R Rebbeck
Journal:  N Engl J Med       Date:  2020-09-10       Impact factor: 176.079

9.  "What does it mean?": uncertainties in understanding results of chromosomal microarray testing.

Authors:  Marian Reiff; Barbara A Bernhardt; Surabhi Mulchandani; Danielle Soucier; Diana Cornell; Reed E Pyeritz; Nancy B Spinner
Journal:  Genet Med       Date:  2012-01-05       Impact factor: 8.822

10.  Two separate, large cohorts reveal potential modifiers of age-associated variation in visual reaction time performance.

Authors:  J S Talboom; M D De Both; M A Naymik; A M Schmidt; C R Lewis; W M Jepsen; A K Håberg; T Rundek; B E Levin; S Hoscheidt; Y Bolla; R D Brinton; N J Schork; M Hay; C A Barnes; E Glisky; L Ryan; M J Huentelman
Journal:  NPJ Aging Mech Dis       Date:  2021-07-01
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