Journal of Community Genetics

, Volume 8, Issue 4, pp 267–273 | Cite as

Inclusion of diverse populations in genomic research and health services: Genomix workshop report

  • Savio S. Mathew
  • Julian Barwell
  • Nasaim Khan
  • Ella Lynch
  • Michael Parker
  • Nadeem QureshiEmail author
Original Article
Part of the following topical collections:
  1. Inclusion of Diverse Populations In Genomics Research and Health Services: A Scientific and Health Equity Imperative


Clinical genetic services and genomic research are rapidly developing but, historically, those with the greatest need are the least to benefit from these advances. This encompasses low-income communities, including those from ethnic minority and indigenous backgrounds. The “Genomix” workshop at the European Society of Human Genetics (ESHG) 2016 conference offered the opportunity to consider possible solutions for these disparities from the experiences of researchers and genetic healthcare practitioners working with underserved communities in the USA, UK and Australia. Evident from the workshop and corresponding literature is that a multi-faceted approach to engaging communities is essential. This needs to be complemented by redesigning healthcare systems that improves access and raises awareness of the needs of these communities. At a more strategic level, institutions involved in funding research, commissioning and redesigning genetic health services also need to be adequately represented by underserved populations with intrinsic mechanisms to disseminate good practice and monitor participation. Further, as genomic medicine is mainstreamed, educational programmes developed for clinicians should incorporate approaches to alleviate disparities in accessing genetic services and improving study participation.


Disparities Genetic services Ethnic minorities Indigenous populations Genomic research 



We thank Sylvia Metcalfe, Emma Kowal, Vence Bonham and the Melbourne Genomics Health Alliance for their contribution to the “Genomix” disparities workshop at ESHG 2016 conference which formed the basis of this paper. We are also grateful to Ming Lim for comments on manuscript and Genome England for sponsoring Naz Khan’s participation in the disparity workshop at ESHG 2016 conference.

Compliance with ethical standards

The authors declare that they have no conflict of interest.


  1. Allford A, Qureshi N, Barwell J, Lewis C, Kai J (2014) What hinders minority ethnic access to cancer genetics services and what may help? Eur J Hum Genet 22(7):866–874. doi: 10.1038/ejhg.2013.257 CrossRefPubMedGoogle Scholar
  2. Ansell D, Grabler P, Whitman S, Ferrans C, Burgess-Bishop J, Murray LR, Rao R, Marcus E (2009) A community effort to reduce the black/white breast cancer mortality disparity in Chicago. Cancer Causes Control. Springer Netherlands 20(9):1681–1688. doi: 10.1007/s10552-009-9419-7 CrossRefPubMedGoogle Scholar
  3. 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 Am Med Assoc 293(14):1729. doi: 10.1001/jama.293.14.1729 CrossRefGoogle Scholar
  4. Australian Bureau of Statistics (2011) Census of population and housing Available at:
  5. Barlas İÖ, Sezgin O, Dandara C, Türköz G, Yengel E, Cindi Z, Ankaralı H, Şardaş S (2016) Harnessing knowledge on very important pharmacogenes CYP2C9 and CYP2C19 variation for precision medicine in resource-limited global conflict zones. OMICS J Integ Biol 20(10):604–609. doi: 10.1089/omi.2016.0133 CrossRefGoogle Scholar
  6. Boyer BB, Dillard D, Woodahl EL, Whitener R, Thummel KE, Burke W (2011) Ethical issues in developing pharmacogenetic research partnerships with American Indigenous communities. Clin Pharmacol Ther 89(3):343–345. doi: 10.1038/clpt.2010.303 CrossRefPubMedPubMedCentralGoogle Scholar
  7. Caffrey L, Wyatt D, Fudge N, Mattingley H, Williamson C, McKevitt C (2016) Gender equity programmes in academic medicine: a realist evaluation approach to Athena SWAN processes. BMJ Open 6(9):e012090. doi: 10.1136/bmjopen-2016-012090 CrossRefPubMedPubMedCentralGoogle Scholar
  8. Callaway E (2016) Geneticists attempt to heal rifts with Aboriginal communities. Nature 537(7621):457–458. doi: 10.1038/537457a CrossRefPubMedGoogle Scholar
  9. Carlson CS, Matise TC, North KE, Haiman CA, Fesinmeyer MD, Buyske S, Schumacher FR, Peters U, Franceschini N, Ritchie MD, Duggan DJ, Spencer KL, Dumitrescu L, Eaton CB, Thomas F, Young A, Carty C, Heiss G, Le Marchand L, Crawford DC, Hindorff LA, Kooperberg CL, PAGE Consortium (2013) Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study. PLoS Biology. Edited by G. Gibson 11(9):e1001661. doi: 10.1371/journal.pbio.1001661 CrossRefPubMedPubMedCentralGoogle Scholar
  10. Chornokur G, Dalton K, Borysova ME, Kumar NB (2011) Disparities at presentation, diagnosis, treatment, and survival in African American men, affected by prostate cancer. Prostate. NIH Public Access 71(9):985–997. doi: 10.1002/pros.21314 CrossRefPubMedGoogle Scholar
  11. Chow-White PA, Duster T (2011) Do health and forensic DNA databases increase racial disparities? PLoS Med. Public library of science 8(10):e1001100. doi: 10.1371/journal.pmed.1001100 CrossRefPubMedPubMedCentralGoogle Scholar
  12. Christianson A, Zimmern R, Kristoffersson U, Schmidtke J, Kent A, Raouf R, Barreiro C, Nippert I (2013) Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations. J Commun Genet 4(3):297–308. doi: 10.1007/s12687-013-0150-4 CrossRefGoogle Scholar
  13. Cohen JC, Boerwinkle E, Mosley TH, Hobbs HH (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354(12):1264–1272. doi: 10.1056/NEJMoa054013 CrossRefPubMedGoogle Scholar
  14. Corbie-Smith G, Thomas SB, Williams MV, Moody-Ayers S (1999) Attitudes and beliefs of African Americans toward participation in medical research. J Gen Int Med. Springer 14(9):537–546. doi: 10.1046/j.1525-1497.1999.07048.x CrossRefGoogle Scholar
  15. Desta, Z., Ward, B. A., Soukhova, N. V. and Flockhart, D. A. (2004) Comprehensive evaluation of tamoxifen sequential biotransformation by the human cytochrome P450 system in vitro: prominent roles for CYP3A and CYP2D6, J Pharmacol Exp Ther 310(3)Google Scholar
  16. Dubé JB, Wang J, Cao H, McIntyre AD, Johansen CT, Hopkins SE, Stringer R, Hosseinzadeh S, Kennedy BA, Ban MR, Young TK, Connelly PW, Dewailly E, Bjerregaard P, Boyer BB, Hegele RA (2015) Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations. Circ Cardiovasc Genet 8:100–105. doi: 10.1161/CIRCGENETICS.114.000646
  17. Evans DGR, Barwell J, Eccles DM, Collins A, Izatt L, Jacobs C, Donaldson A, Brady AF, Cuthbert A, Harrison R, Thomas S, Howell A, Miedzybrodzka Z, Murray A (2014) The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res 16(5):442. doi: 10.1186/s13058-014-0442-6 CrossRefPubMedPubMedCentralGoogle Scholar
  18. Fairchild AL, Bayer R (1999) Uses and abuses of Tuskegee. Science 284(5416)Google Scholar
  19. Farrell J, Petrovics G, McLeod DG, Srivastava S (2013) Genetic and molecular differences in prostate carcinogenesis between African American and Caucasian American men. Int J Mol Sci. Multidisciplinary Digital Publishing Institute (MDPI) 14(8):15510–15531. doi: 10.3390/ijms140815510 CrossRefPubMedPubMedCentralGoogle Scholar
  20. Feero WG, Green ED (2011) Genomics education for health care professionals in the 21st century. JAMA 306(9):989–990. doi: 10.1001/jama.2011.1245 CrossRefPubMedGoogle Scholar
  21. Fouad MN, Partridge E, Dignan M, Holt C, Johnson R, Nagy C, Person S, Wynn T, Scarinci I (2010) Targeted intervention strategies to increase and maintain mammography utilization among African American women. Am J Pub Health. American Public Health Association 100(12):2526–2531. doi: 10.2105/AJPH.2009.167312 CrossRefGoogle Scholar
  22. Gaff CL, Winship IM, Forrest SM, Hansen DP, Clark J, Waring PM, South M, Sinclair AH (2017) Preparing for genomic medicine: a real world demonstration of health system change. npj Genomic Med 2(1):16. doi: 10.1038/s41525-017-0017-4 CrossRefGoogle Scholar
  23. Gamble, V. N. (1997) Under the shadow of Tuskegee: African Americans and health care., Am J Public Health. American Public Health Association 87(11):1773–8. Available at: (Accessed: 25 February 2017)
  24. Garduño-Diaz SD, Khokhar S (2012) Prevalence, risk factors and complications associated with type 2 diabetes in migrant South Asians. Diabetes Metab Res Rev 28(1):6–24. doi: 10.1002/dmrr.1219 CrossRefPubMedGoogle Scholar
  25. George S, Duran N, Norris K (2014) A systematic review of barriers and facilitators to minority research participation among African Americans, Latinos, Asian Americans, and Pacific Islanders. Am J Pub Health. American Public Health Association 104(2):e16–e31. doi: 10.2105/AJPH.2013.301706 CrossRefGoogle Scholar
  26. Gregory-Smith, I. (2015) The impact of Athena SWAN in UK medical schools, Sheffield economic research paper series. Available at:!/file/paper_2015010.pdf (Accessed: 17 June 2017)
  27. Hung S-I, Chung W-H, Jee S-H, Chen W-C, Chang Y-T, Lee W-R, Hu S-L, Wu M-T, Chen G-S, Wong T-W, Hsiao P-F, Chen W-H, Shih H-Y, Fang W-H, Wei C-Y, Lou Y-H, Huang Y-L, Lin J-J, Chen Y-T (2006) Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 16(4):297–306. doi: 10.1097/01.fpc.0000199500.46842.4a CrossRefPubMedGoogle Scholar
  28. Hussain-Gambles M (2003) Ethnic minority under-representation in clinical trials. J Health Org Manag 17(2):138–143. doi: 10.1108/14777260310476177 CrossRefGoogle Scholar
  29. Hussein, N., Weng, S. F., Kai, J., Kleijnen, J. and Qureshi, N. (2015) Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, in Qureshi, N. (ed.) Cochrane Database of Systematic Reviews. Chichester, UK: John Wiley & Sons, Ltd, p. CD010849. doi:  10.1002/14651858.CD010849.pub2
  30. Isler, M. R., Sutton, K., Cadigan, R. J. and Corbie-Smith, G. (2013) Community perceptions of genomic research: implications for addressing health disparities., N C Med J. North Carolina Medical Society 74(6):470–6. Available at: (Accessed: 21 February 2017)
  31. Jones GE, Singletary JH, Cashmore A, Jain V, Abhulimhen J, Chauhan J, Musson HV, Barwell JG (2016) Developing and assessing the utility of a You-Tube based clinical genetics video channel for families affected by inherited tumours. Familial Cancer. Springer Netherlands 15(2):351–355. doi: 10.1007/s10689-016-9866-8 CrossRefPubMedGoogle Scholar
  32. Kaneko, A., Lum, J. K., Yaviong, L., Takahashi, N., Ishizaki, T., Bertilsson, L., Kobayakawa, T. and Björkman, A. (1999) High and variable frequencies of CYP2C19 mutations: medical consequences of poor drug metabolism in Vanuatu and other Pacific islands. Pharmacogenetics 9(5):581–90. Available at: (Accessed: 24 February 2017)
  33. Khan N, Benson J, Macleod R, Kingston H (2010) Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families. J Commun Genet. Springer 1(2):73–81. doi: 10.1007/s12687-010-0012-2 CrossRefGoogle Scholar
  34. Khan N, Kerr G, Kingston H (2016) Community engagement and education: addressing the needs of South Asian families with genetic disorders. J Commun Genet 7(4):317–323. doi: 10.1007/s12687-016-0278-0 CrossRefGoogle Scholar
  35. King TE, Fortes GG, Balaresque P, Thomas MG, Balding D, Delser PM, Neumann R, Parson W, Knapp M, Walsh S, Tonasso L, Holt J, Kayser M, Appleby J, Forster P, Ekserdjian D, Hofreiter M, Schürer K (2014) Identification of the remains of King Richard III. Nat Commun. Nature Publication Group 5:5631. doi: 10.1038/ncomms6631 CrossRefPubMedPubMedCentralGoogle Scholar
  36. Lakhani NS, Weir J, Allford A, Kai J, Barwell JG (2013) Could triaging family history of cancer during palliative care enable earlier genetic counseling intervention? J Palliat Med. Mary Ann Liebert, Inc. 16(11):1350–1355. doi: 10.1089/jpm.2012.0583 CrossRefPubMedPubMedCentralGoogle Scholar
  37. Laskey SL, Williams J, Pierre-Louis J, O’Riordan M, Matthews A, Robin NH (2003) Attitudes of African American premedical students toward genetic testing and screening. Gene Med 5(1):49–54. doi: 10.1097/00125817-200301000-00008 CrossRefGoogle Scholar
  38. Lawson FP, Folawiyo O, Pirini F, Valle BL, Sidransky D, Ford J, Erby L, Guerrero-Preston R (2015) Abstract A28: enrolling African Americans into a cancer-related biobank. Cancer Epidemiol Prev Biomarkers 24(10 Supplement)Google Scholar
  39. Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, Shields AE (2011) Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk. Genet Med 13(4):349–355. doi: 10.1097/GIM.0b013e3182091ba4 CrossRefPubMedPubMedCentralGoogle Scholar
  40. Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS (2016) Genetic misdiagnoses and the potential for health disparities. N Engl J Med 375(7):655–665. doi: 10.1056/NEJMsa1507092 CrossRefPubMedPubMedCentralGoogle Scholar
  41. Martin DN, Starks AM, Ambs S (2013) Biological determinants of health disparities in prostate cancer. Curr Opin Oncol 25(3):1. doi: 10.1097/CCO.0b013e32835eb5d1 CrossRefGoogle Scholar
  42. Medical Schools Council (2015) A survey of staffing levels of medical clinical academics in UK medical schools as at 31 July 2014 Available at: (Accessed: 17 June 2017)
  43. Mello MM, Wolf LE (2010) The Havasupai Indian tribe case—lessons for research involving stored biologic samples. N Engl J Med. Massachusetts Medical Society 363(3):204–207. doi: 10.1056/NEJMp1005203 CrossRefPubMedGoogle Scholar
  44. Mersha TB, Abebe T (2015) Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities. Hum Genomics 9(1):1. doi: 10.1186/s40246-014-0023-x CrossRefPubMedPubMedCentralGoogle Scholar
  45. Metcalfe C, Evans S, Ibrahim F, Patel B, Anson K, Chinegwundoh F, Corbishley C, Gillatt D, Kirby R, Muir G, Nargund V, Popert R, Persad R, Ben-Shlomo Y, PROCESS Study Group (2008) Pathways to diagnosis for Black men and White men found to have prostate cancer: the PROCESS cohort study. Br J Cancer 99(7):1040–1045. doi: 10.1038/sj.bjc.6604670 CrossRefPubMedPubMedCentralGoogle Scholar
  46. Modell, B., Harris, R., Lane, B., Khan, M., Darlison, M., Petrou, M., Old, J., Layton, M. and Varnavides, L. (2000) Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry., BMJ (Clin Res ed.) 320(7231):337–41. Available at: (Accessed: 24 February 2017)
  47. Nippert I (2013) “CAPABILITY” and “Genetic testing in emerging economies” (GenTEE). J Commun Genet 4(3):293–296. doi: 10.1007/s12687-013-0158-9 CrossRefGoogle Scholar
  48. Ovseiko PV, Chapple A, Edmunds LD, Ziebland S (2017) Advancing gender equality through the Athena SWAN Charter for Women in Science: an exploratory study of women’s and men’s perceptions. Health Res Pol Sys 15(1):12. doi: 10.1186/s12961-017-0177-9 CrossRefGoogle Scholar
  49. Pacheco CM, Daley SM, Brown T, Filippi M, Greiner KA, Daley CM (2013) Moving forward: breaking the cycle of mistrust between American Indians and researchers. Am J Pub Health. American Public Health Association 103(12):2152–2159. doi: 10.2105/AJPH.2013.301480 CrossRefGoogle Scholar
  50. Petrovski S, Goldstein DB (2016) Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biol 17(1):157. doi: 10.1186/s13059-016-1016-y CrossRefPubMedPubMedCentralGoogle Scholar
  51. Popejoy AB, Fullerton SM (2016) Genomics is failing on diversity. Nature. NIH Public Access 538(7624):161–164. doi: 10.1038/538161a CrossRefPubMedPubMedCentralGoogle Scholar
  52. Powell IJ, Bollig-Fischer A (2013) Minireview: the molecular and genomic basis for prostate cancer health disparities. Mol Endocrinol 27(6):879–891. doi: 10.1210/me.2013-1039 CrossRefPubMedPubMedCentralGoogle Scholar
  53. Public Health England (2016) Child Health Profile 2016- Lancashire Available at:
  54. Radice P, De Summa S, Caleca L, Tommasi S (2011) Unclassified variants in BRCA genes: guidelines for interpretation. Ann Oncol 22(suppl 1):i18–i23. doi: 10.1093/annonc/mdq661 CrossRefPubMedGoogle Scholar
  55. Roberts, A., Cullen, R. and Bundey, S. (1996) The representation of ethnic minorities at genetic clinics in Birmingham., J Med Genet 33(1):56–8. Available at: (Accessed: 28 February 2017)
  56. Scharff DP, Mathews KJ, Jackson P, Hoffsuemmer J, Martin E, Edwards D (2010) More than Tuskegee: understanding mistrust about research participation. J Health Care Poor Underser. NIH Public Access 21(3):879–897. doi: 10.1353/hpu.0.0323 CrossRefGoogle Scholar
  57. Schoenfeld ER, Francis LE (2016) Word on the street: engaging local leaders in a dialogue about prostate cancer among African Americans. Am J Men’s Health. NIH Public Access 10(5):377–388. doi: 10.1177/1557988314566503 CrossRefGoogle Scholar
  58. Schulz A, Caldwell C, Foster S (2003) “What are they going to do with the information?” Latino/Latina and African American perspectives on the Human Genome Project. Health Educ Behav 30(2):151–169. doi: 10.1177/1090198102251026 CrossRefPubMedGoogle Scholar
  59. Sheppard, V. B., Mays, D., LaVeist, T. and Tercyak, K. P. (2013) Medical mistrust influences black women’s level of engagement in BRCA 1/2 genetic counseling and testing., J Natl Med Assoc 105(1):17–22. Available at: (Accessed: 25 February 2017)
  60. Streicher SA, Sanderson SC, Jabs EW, Diefenbach M, Smirnoff M, Peter I, Horowitz CR, Brenner B, Richardson LD (2011) Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study. J Commun Genet 2(3):153–163. doi: 10.1007/s12687-011-0052-2 CrossRefGoogle Scholar
  61. Susswein LR, Skrzynia C, Lange LA, Booker JK, Graham ML, Evans JP (2008) Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. J Clin Oncol 26(1):32–36. doi: 10.1200/JCO.2007.10.6377 CrossRefPubMedGoogle Scholar
  62. Via M, Ziv E, Burchard EG (2009) Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing. Clin Genet. NIH Public Access 76(3):225–235. doi: 10.1111/j.1399-0004.2009.01263.x CrossRefPubMedPubMedCentralGoogle Scholar
  63. Walker, E. R., Nelson, C. R., Antoine-LaVigne, D., Thigpen, D. T., Puggal, M. A., Sarpong, D. E. and Smith, A. M. (2014) Research participants’ opinions on genetic research and reasons for participation: a Jackson Heart Study focus group analysis., Ethn Dis 24(3):290–7. Available at: (Accessed: 27 February 2017)
  64. Williams, H. and Powell, I. J. (2009) Epidemiology, pathology, and genetics of prostate cancer among African Americans compared with other ethnicities. Methods Mol Biol (Clifton, N.J.), pp. 439–453. doi:  10.1007/978-1-60327-492-0_21
  65. Yancey AK, Ortega AN, Kumanyika SK (2006) Effective recruitment and retention of minority research participants. Annu Rev Public Health 27(1):1–28. doi: 10.1146/annurev.publhealth.27.021405.102113 CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Savio S. Mathew
    • 1
  • Julian Barwell
    • 2
  • Nasaim Khan
    • 3
  • Ella Lynch
    • 4
  • Michael Parker
    • 5
  • Nadeem Qureshi
    • 6
    Email author
  1. 1.University of Plymouth, Drake CircusPlymouthUK
  2. 2.Clinical Genetics Department, Leicester Royal InfirmaryLeicesterUK
  3. 3.Genomic medicine, St. Mary’s Hospital, Manchester Academic Health Science CentreCentral Manchester University Hospitals NHS Foundation TrustManchesterUK
  4. 4.Melbourne Genomics Health AllianceParkvilleAustralia
  5. 5.The Ethox Centre, Nuffield Department of Population HealthOld Road Campus, University of OxfordOxfordUK
  6. 6.Division of Primary CareUniversity of NottinghamNottinghamUK

Personalised recommendations