1932
0
  1. Home
  2. A-Z Publications
  3. Annual Review of Genomics and Human Genetics
  4. Volume 23, 2022
  5. Article

Annual Review of Genomics and Human Genetics

Volume 23, 2022

Equity in Genomic Medicine

Abstract

Since the completion of the Human Genome Project, considerable progress has been made in translating knowledge about the genetic basis of disease risk and treatment response into clinical services and public health interventions that have greater precision. It is anticipated that more precision approaches to early detection, prevention, and treatment will be developed and will enhance equity in healthcare and outcomes among disparity populations. Reduced access to genomic medicine research, clinical services, and public health interventions has the potential to exacerbate disparities in genomic medicine. The purpose of this article is to describe these challenges to equity in genomic medicine and identify opportunities and future directions for addressing these issues. Efforts are needed to enhance access to genomic medicine research, clinical services, and public health interventions, and additional research that examines the clinical utility of precision medicine among disparity populations should be prioritized to ensure equity in genomic medicine.

Keyword(s): equity, genomic medicine, minority health, translational research
Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-112921-022635
2022-08-31
2024-05-08
Loading full text...

Full text loading...

/deliver/fulltext/genom/23/1/annurev-genom-112921-022635.html?itemId=/content/journals/10.1146/annurev-genom-112921-022635&mimeType=html&fmt=ahah

Literature Cited

  1. 1.
    Alford SH, McBride CM, Reid RJ, Larson EB, Baxevanis AD et al. 2011. Participation in genetic testing research varies by social group. Public Health Genom 14:85–93
     [Google Scholar]
  2. 2.
    Am. Cancer Soc. 2019. Cancer facts and figures: 2019 Rep. Am. Cancer Soc. Atlanta:
  3. 3.
    Anton-Culver H, Ziogas A, Bowen D, Finkelstein D, Griffin C et al. 2003. The Cancer Genetics Network: recruitment results and pilot studies. Community Genet 6:171–77
     [Google Scholar]
  4. 4.
    Armstrong K, Micco E, Carney A, Stopfer J, Putt M. 2005. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA 293:1729–36
     [Google Scholar]
  5. 5.
    Armstrong K, Weber B, Stopfer J, Calzone K, Putt M et al. 2003. Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. Am. J. Med. Genet. A 117A:154–60
     [Google Scholar]
  6. 6.
    Ashida S, Goodman MS, Stafford J, Lachance C, Kaphingst KA. 2012. Perceived familiarity with and importance of family health history among a medically underserved population. J. Community Genet. 3:285–95
     [Google Scholar]
  7. 7.
    Beebe-Dimmer JL, Albrecht TL, Baird TE, Ruterbusch JJ, Hastert T et al. 2019. The Detroit Research on Cancer Survivors (ROCS) pilot study: a focus on outcomes after cancer in a racially diverse patient population. Cancer Epidemiol. Biomark. Prev. 28:666–74
     [Google Scholar]
  8. 8.
    Berg AO, Baird MA, Botkin JR, Driscoll DA, Fishman PA et al. 2009. National Institutes of Health state-of-the-science conference statement: family history and improving health. Ann. Intern. Med. 151:872–77
     [Google Scholar]
  9. 9.
    Biesecker BB, Boehnke M, Calzone K, Markel DS, Garber JE et al. 1993. Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA 269:1970–74
     [Google Scholar]
  10. 10.
    Bowen DJ, Vu T, Kasten-Sportes C. 2008. Increasing minority participant enrollment into a cancer family registry: the Cancer Genetics Network. Community Genet 11:191–92
     [Google Scholar]
  11. 11.
    Bressler J, Kao WH, Pankow JS, Boerwinkle E. 2010. Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study. PLOS ONE 5:e10521
     [Google Scholar]
  12. 12.
    Brody LC, Biesecker BB. 1998. Breast cancer susceptibility genes: BRCA1 and BRCA2. Medicine 77:208–26
     [Google Scholar]
  13. 13.
    Collins FS, Green ED, Guttmacher AE, Guyer MS. 2003. A vision for the future of genomics research. Nature 422:835–47
     [Google Scholar]
  14. 14.
    Corbie-Smith G, Miller WC, Ransohoff DF. 2004. Interpretations of ‘appropriate’ minority inclusion in clinical research. Am. J. Med. 116:249–52
     [Google Scholar]
  15. 15.
    Costa PA, Saul EE, Paul Y, Iyer S, da Silva LL et al. 2021. Prevalence of targetable mutations in Black patients with lung cancer: a systematic review and meta-analysis. JCO Oncol. Pract. 17:e629–36
     [Google Scholar]
  16. 16.
    Cote ML, Haddad R, Edwards DJ, Atikukke G, Gadgeel S et al. 2011. Frequency and type of epidermal growth factor receptor mutations in African Americans with non-small cell lung cancer. J. Thorac. Oncol. 6:627–30
     [Google Scholar]
  17. 17.
    Dankwa-Mullan I, Rhee KB, Stoff DM, Pohlhaus JR, Sy FS et al. 2010. Moving toward paradigm-shifting research in health disparities through translational, transformational, and transdisciplinary approaches. Am. J. Public Health 100:S19–24
     [Google Scholar]
  18. 18.
    Frey LJ, Bernstam EV, Denny JC. 2016. Precision medicine informatics. J. Am. Med. Inform. Assoc. 23:668–70
     [Google Scholar]
  19. 19.
    Gibbons MC. 2005. A historical overview of health disparities and the potential of eHealth solutions. J. Med. Internet Res. 7:e50
     [Google Scholar]
  20. 20.
    Graves KD, Wenzel L, Schwartz MD, Luta G, Wileyto P et al. 2010. Randomized controlled trial of a psychosocial telephone counseling intervention in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol. Biomark. Prev. 19:648–54
     [Google Scholar]
  21. 21.
    Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB et al. 2014. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet. Med. 16:727–35
     [Google Scholar]
  22. 22.
    Green ED, Guyer MS. 2011. Charting a course for genomic medicine from base pairs to bedside. Nature 470:204–13
     [Google Scholar]
  23. 23.
    Haga SB. 2010. Impact of limited population diversity of genome-wide association studies. Genet. Med. 12:81–84
     [Google Scholar]
  24. 24.
    Halbert CH, Allen CG, Jefferson M, Magwood GS, Melvin C et al. 2020. Lessons learned from the Medical University of South Carolina transdisciplinary collaborative center (TCC) in precision medicine and minority men's health. Am. J. Men's Health 14:1557988320979236
     [Google Scholar]
  25. 25.
    Halbert CH, Brewster K, Collier A, Smith C, Kessler L et al. 2005. Recruiting African American women to participate in hereditary breast cancer research. J. Clin. Oncol. 23:7967–73
     [Google Scholar]
  26. 26.
    Halbert CH, Gandy OH Jr., Collier A, Shaker L. 2007. Beliefs about tobacco use in African Americans. Ethn. Dis. 17:92–98
     [Google Scholar]
  27. 27.
    Halbert CH, Jefferson M, Allen CG, Babatunde OA, Drake R et al. 2021. Racial differences in patient portal activation and research enrollment among patients with prostate cancer. JCO Clin. Cancer Inform. 5:768–74
     [Google Scholar]
  28. 28.
    Halbert CH, Kessler L, Collier A, Weathers B, Stopfer J et al. 2012. Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference?. J. Genet. Couns. 21:676–83
     [Google Scholar]
  29. 29.
    Halbert CH, Kessler L, Stopfer JE, Domchek S, Wileyto EP. 2006. Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. Genet. Med. 8:576–82
     [Google Scholar]
  30. 30.
    Halbert CH, Kessler L, Troxel AB, Stopfer JE, Domchek S. 2010. Effect of genetic counseling and testing for BRCA1 and BRCA2 mutations in African American women: a randomized trial. Public Health Genom 13:440–48
     [Google Scholar]
  31. 31.
    Halbert CH, Love D, Mayes T, Collier A, Weathers B et al. 2008. Retention of African American women in cancer genetics research. Am. J. Med. Genet. A 146A:166–73
     [Google Scholar]
  32. 32.
    Halbert CH, McDonald JA, Magwood G, Jefferson M. 2017. Beliefs about genetically targeted care in African Americans. J. Natl. Med. Assoc. 109:98–106
     [Google Scholar]
  33. 33.
    Halbert CH, McDonald JA, Vadaparampil S, Rice L, Jefferson M. 2016. Conducting precision medicine research with African Americans. PLOS ONE 11:e0154850
     [Google Scholar]
  34. 34.
    Halbert CH, Stopfer JE, McDonald J, Weathers B, Collier A et al. 2011. Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: Does time heal women's concerns?. J. Clin. Oncol. 29:4302–6
     [Google Scholar]
  35. 35.
    Halbert CH, Welch B, Lynch C, Magwood G, Rice L et al. 2016. Social determinants of family health history collection. J. Community Genet. 7:57–64
     [Google Scholar]
  36. 36.
    Hardiman G, Savage SJ, Hazard ES, da Silveira WA, Morgan R et al. 2021. A systems approach to interrogate gene expression patterns in African American men presenting with clinically localized prostate cancer. Cancers 13:5143
     [Google Scholar]
  37. 37.
    Hughes C, Fasaye GA, LaSalle VH, Finch C. 2003. Sociocultural influences on participation in genetic risk assessment and testing among African American women. Patient Educ. Couns. 51:107–14
     [Google Scholar]
  38. 38.
    Hughes C, Gomez-Caminero A, Benkendorf J, Kerner J, Isaacs C et al. 1997. Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Educ. Couns. 32:51–62
     [Google Scholar]
  39. 39.
    Hughes C, Lerman C, Lustbader E. 1996. Ethnic differences in risk perception among women at increased risk for breast cancer. Breast Cancer Res. Treat. 40:25–35
     [Google Scholar]
  40. 40.
    Hughes C, Peterson SK, Ramirez A, Gallion KJ, McDonald PG et al. 2004. Minority recruitment in hereditary breast cancer research. Cancer Epidemiol. Biomark. Prev. 13:1146–55
     [Google Scholar]
  41. 41.
    Huo D, Senie RT, Daly M, Buys SS, Cummings S et al. 2009. Prediction of BRCA mutations using the BRCAPRO model in clinic-based African American, Hispanic, and other minority families in the United States. J. Clin. Oncol. 27:1184–90
     [Google Scholar]
  42. 42.
    James RD, Yu JH, Henrikson NB, Bowen DJ, Fullerton SM. 2008. Strategies and stakeholders: minority recruitment in cancer genetics research. Community Genet 11:241–49
     [Google Scholar]
  43. 43.
    Kaphingst KA, McBride CM, Wade C, Alford SH, Reid R et al. 2012. Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genet. Med. 14:681–87
     [Google Scholar]
  44. 44.
    Kessler L, Collier A, Halbert CH. 2007. Knowledge about genetics among African Americans. J. Genet. Couns. 16:191–200
     [Google Scholar]
  45. 45.
    Khoury MJ, Feero WG, Valdez R. 2010. Family history and personal genomics as tools for improving health in an era of evidence-based medicine. Am. J. Prev. Med. 39:184–88
     [Google Scholar]
  46. 46.
    Kinney AY, Steffen LE, Brumbach BH, Kohlmann W, Du R et al. 2016. Randomized noninferiority trial of telephone delivery of BRCA1/2 genetic counseling compared with in-person counseling: 1-year follow-up. J. Clin. Oncol. 34:2914–24
     [Google Scholar]
  47. 47.
    Krakow M, Rising CJ, Trivedi N, Yoon DC, Vanderpool RC. 2020. Prevalence and correlates of family cancer history knowledge and communication among US adults. Prev. Chronic Dis. 17:E146
     [Google Scholar]
  48. 48.
    Lerman C, Hughes C, Benkendorf JL, Biesecker B, Kerner J et al. 1999. Racial differences in testing motivation and psychological distress following pretest education for BRCA1 gene testing. Cancer Epidemiol. Biomark. Prev. 8:361–67
     [Google Scholar]
  49. 49.
    Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A et al. 1996. BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. JAMA 275:1885–92
     [Google Scholar]
  50. 50.
    Lewis JP, Palmer ND, Hicks PJ, Sale MM, Langefeld CD et al. 2008. Association analysis in African Americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. Diabetes 57:2220–25
     [Google Scholar]
  51. 51.
    Lynch JA, Berse B, Rabb M, Mosquin P, Chew R et al. 2018. Underutilization and disparities in access to EGFR testing among Medicare patients with lung cancer from 2010–2013. BMC Cancer 18:306
     [Google Scholar]
  52. 52.
    Mai PL, Vadaparampil ST, Breen N, McNeel TS, Wideroff L et al. 2014. Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys. Am. J. Prev. Med. 46:440–48
     [Google Scholar]
  53. 53.
    Manswell Butty JA, Richardson F, Mouton CP, Royal CD, Green RD et al. 2012. Evaluation findings from genetics and family health history community-based workshops for African Americans. J. Community Genet. 3:1–12
     [Google Scholar]
  54. 54.
    McBride CM, Wade CH, Kaphingst KA. 2010. Consumers’ views of direct-to-consumer genetic information. Annu. Rev. Genom. Hum. Genet. 11:427–46
     [Google Scholar]
  55. 55.
    McCarthy AM, Bristol M, Domchek SM, Groeneveld PW, Kim Y et al. 2016. Health care segregation, physician recommendation, and racial disparities in BRCA1/2 testing among women with breast cancer. J. Clin. Oncol. 34:2610–18
     [Google Scholar]
  56. 56.
    McDonald JA, Vadaparampil S, Bowen D, Magwood G, Obeid JS et al. 2014. Intentions to donate to a biobank in a national sample of African Americans. Public Health Genom 17:173–82
     [Google Scholar]
  57. 57.
    McDonald JA, Weathers B, Barg FK, Troxel AB, Shea JA et al. 2012. Donation intentions for cancer genetics research among African Americans. Genet. Test Mol. Biomark. 16:252–58
     [Google Scholar]
  58. 58.
    Moorman PG, Skinner CS, Evans JP, Newman B, Sorenson JR et al. 2004. Racial differences in enrolment in a cancer genetics registry. Cancer Epidemiol. Biomark. Prev. 13:1349–54
     [Google Scholar]
  59. 59.
    Nanda R, Schumm LP, Cummings S, Fackenthal JD, Sveen L et al. 2005. Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 294:1925–33
     [Google Scholar]
  60. 60.
    Natl. Compr. Cancer. Netw. 2022. NCCN Guidelines: non-small cell lung cancer Guidel. Version 1.2022 Natl. Compr. Cancer Netw. Plymouth Meeting, PA: Available at https://www.nccn.org/guidelines/guidelines-detail?category=1&id=1450
  61. 61.
    O'Neill SM, Rubinstein WS, Wang C, Yoon PW, Acheson LS et al. 2009. Familial risk for common diseases in primary care: the Family Healthware Impact Trial. Am. J. Prev. Med. 36:506–14
     [Google Scholar]
  62. 62.
    Orlando LA, Hauser ER, Christianson C, Powell KP, Buchanan AH et al. 2011. Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Serv. Res. 11:264
     [Google Scholar]
  63. 63.
    Payne PW Jr., Royal C. 2007. The role of genetic and sociopolitical definitions of race in clinical trials. J. Am. Acad. Orthop. Surg. 15:S100–4
     [Google Scholar]
  64. 64.
    Penchansky R, Thomas JW. 1981. The concept of access: definition and relationship to consumer satisfaction. Med. Care 19:127–40
     [Google Scholar]
  65. 65.
    Popejoy AB, Fullerton SM. 2016. Genomics is failing on diversity. Nature 538:161–64
     [Google Scholar]
  66. 66.
    Powell IJ, Carpten J, Dunston G, Kittles R, Bennett J et al. 2001. African-American heredity prostate cancer study: a model for genetic research. J. Natl. Med. Assoc. 93:Suppl.25S–28S
     [Google Scholar]
  67. 67.
    Rebbeck TR, Sankar P. 2005. Ethnicity, ancestry, and race in molecular epidemiologic research. Cancer Epidemiol. Biomark. Prev. 14:2467–71
     [Google Scholar]
  68. 68.
    Reid RJ, McBride CM, Alford SH, Price C, Baxevanis AD et al. 2012. Association between health-service use and multiplex genetic testing. Genet. Med. 14:852–59
     [Google Scholar]
  69. 69.
    Royal C, Baffoe-Bonnie A, Kittles R, Powell I, Bennett J et al. 2000. Recruitment experience in the first phase of the African American Hereditary Prostate Cancer (AAHPC) study. Ann. Epidemiol. 10:S68–77
     [Google Scholar]
  70. 70.
    Rubinstein WS, Acheson LS, O'Neill SM, Ruffin MT IV, Wang C et al. 2011. Clinical utility of family history for cancer screening and referral in primary care: a report from the Family Healthware Impact Trial. Genet. Med. 13:956–65
     [Google Scholar]
  71. 71.
    Ruffin MT IV, Nease DE Jr., Sen A, Pace WD, Wang C et al. 2011. Effect of preventive messages tailored to family history on health behaviors: the Family Healthware Impact Trial. Ann. Fam. Med. 9:3–11
     [Google Scholar]
  72. 72.
    Sankar P, Cho MK, Mountain J. 2007. Race and ethnicity in genetic research. Am. J. Med. Genet. 143:961–70
     [Google Scholar]
  73. 73.
    Schwartz MD, Kaufman E, Peshkin BN, Isaacs C, Hughes C et al. 2003. Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing. J. Clin. Oncol. 21:4034–41
     [Google Scholar]
  74. 74.
    Schwartz MD, Lerman C, Brogan B, Peshkin BN, Halbert CH et al. 2004. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J. Clin. Oncol. 22:1823–29
     [Google Scholar]
  75. 75.
    Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C et al. 2005. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol. Biomark. Prev. 14:1003–7
     [Google Scholar]
  76. 76.
    Shabo Shvo A. 2013. The patient-centric translational health record. Pharmacogenomics 14:349–52
     [Google Scholar]
  77. 77.
    Shields AE, Crown WH. 2012. Looking to the future: incorporating genomic information into disparities research to reduce measurement error and selection bias. Health Serv. Res. 47:1387–410
     [Google Scholar]
  78. 78.
    Spratt DE, Chan T, Waldron L, Speers C, Feng FY et al. 2016. Racial/ethnic disparities in genomic sequencing. JAMA Oncol 2:1070–74
     [Google Scholar]
  79. 79.
    Theisen V, Duquette D, Kardia S, Wang C, Beene-Harris R, Bach J. 2005. Blood pressure Sunday: introducing genomics to the community through family history. Prev. Chronic Dis. 2:A23
     [Google Scholar]
  80. 80.
    Thompson HS, Valdimarsdottir HB, Duteau-Buck C, Guevarra J, Bovbjerg DH et al. 2002. Psychosocial predictors of BRCA counseling and testing decisions among urban African-American women. Cancer Epidemiol. Biomark. Prev. 11:1579–85
     [Google Scholar]
  81. 81.
    Valdez R, Yoon PW, Qureshi N, Green RF, Khoury MJ. 2010. Family history in public health practice: a genomic tool for disease prevention and health promotion. Annu. Rev. Public Health 31:69–87
     [Google Scholar]
  82. 82.
    Verma V, Haque W, Cushman TR, Lin C, Simone CB II et al. 2019. Racial and insurance-related disparities in delivery of immunotherapy-type compounds in the United States. J. Immunother. 42:55–64
     [Google Scholar]
  83. 83.
    Wang C, Gallo RE, Fleisher L, Miller SM. 2011. Literacy assessment of family health history tools for public health prevention. Public Health Genom 14:222–37
     [Google Scholar]
  84. 84.
    Wash. Post, Kaiser Fam. Found., Harv. Univ. 2011. Race and recession survey Rep. Wash. Post Washington, DC; Kaiser Fam. Found., San Francisco, CA:; Harv. Univ. Cambridge, MA: https://www.kff.org/wp-content/uploads/2013/01/8159-t.pdf
  85. 85.
    Weathers B, Barg FK, Bowman M, Briggs V, Delmoor E et al. 2011. Using a mixed-methods approach to identify health concerns in an African American community. Am. J. Public Health 101:2087–92
     [Google Scholar]
  86. 86.
    Weathers B, Kessler L, Collier A, Stopfer JE, Domchek S, Halbert CH. 2009. Utilization of religious coping strategies among African American women at increased risk for hereditary breast and ovarian cancer. Fam. Community Health 32:218–27
     [Google Scholar]
  87. 87.
    White House Pres. Barack Obama. 2016. Precision Medicine Initiative. White House: President Barack Obama https://obamawhitehouse.archives.gov/precision-medicine
    [Google Scholar]
/content/journals/10.1146/annurev-genom-112921-022635
Loading
  • Article Type: Review Article

Most Cited Most Cited RSS feed

This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error