Article | Published:

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort

Genetics in Medicine (2018) | Download Citation




Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics.


We purposively recruited 467 individuals self-identified as African, African American, or Afro-Caribbean to the ClinSeq® study and surveyed them about knowledge, motivations, expectations, and traits. Summary statistics were calculated and compared with data from the study’s original cohort, which was primarily White and self-referred.


Recruitment took five years and 83% of enrollees completed the survey. Participants had modest knowledge about benefits and limitations of sequencing (s = 5.1, ranges: 0–10), and less than the original cohort ( = 7.5 and 7.7, respectively). Common motivations to enroll were learning information relevant to personal health (49%) or family members’ health (33%), and most had realistic expectations of sequencing. Like the original cohort, they had high levels of optimism, openness, and resilience.


Early adopters may have relatively consistent personality traits irrespective of majority/minority status and recruitment methods, but high levels of genomics knowledge are not universal. Research should determine whether recruitment and consent procedures provide adequate education to promote informed choices and realistic expectations, which are vital to ethical research and increasing genomics research participation in underrepresented communities.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1.

    Shavers-Hornaday VL, Lynch CF, Burmeister LF, Torner JC. Why are African Americans under-represented in medical research studies? Impediments to participation. Ethn Health. 1997;2:31–45.

  2. 2.

    The 1000 Genomes Project Consortium, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature. 2015;526:68–74.

  3. 3.

    Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016;538:161–164.

  4. 4.

    Millon Underwood S, Buseh AG, Kelber ST, Stevens PE, Townsend L. Enhancing the participation of African Americans in health-related genetic research: findings of a collaborative academic and community-based research study. Nurs Res Pract. 2013;2013:749563.

  5. 5.

    Halbert CH, McDonald J, Vadaparampil S, Rice L, Jefferson M. Conducting precision medicine research with African Americans. PLoS ONE. 2016;11:e0154850.

  6. 6.

    Yu JH, Crouch J, Jamal SM, Tabor HK, Bamshad MJ. Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A. 2013;161A:1064–1072.

  7. 7.

    Sanderson SC, Diefenbach MA, Zinberg R, et al. Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study. J Community Genet. 2013;4:469–482.

  8. 8.

    McDonald JA, Barg FK, Weathers B, et al. Understanding participation by African Americans in cancer genetics research. J Natl Med Assoc. 2012;104:324–330.

  9. 9.

    Bustamante CD, Burchard EG, De La Vega FM. Genomics for the world. Nature. 2011;475:163–165.

  10. 10.

    National Institutes of Health. NIH accelerates the use of genomics in clinical care: new funding awards focus on diverse and underserved populations. 2017. Accessed 6 December 2017.

  11. 11.

    The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. 2015. Accessed 29 October 2018.

  12. 12.

    Wailoo K. Sickle cell disease—a history of progress and peril. N Engl J Med. 2017;376:805–807.

  13. 13.

    Sanderson SC, Linderman MD, Suckiel SA, et al. Motivations, concerns and preferences of personal genome sequencing research participants: baseline findings from the HealthSeq project. Eur J Hum Genet. 2016;24:14–20.

  14. 14.

    Roberts JS, Robinson JO, Diamond PM, et al. Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med. 2018 Jan 4; [Epub ahead of print].

  15. 15.

    Kauffman TL, Irving SA, Leo MC, et al. The NextGen Study: patient motivation for participation in genome sequencing for carrier status. Mol Genet Genomic Med. 2017;5:508–515.

  16. 16.

    Gray SW, Park ER, Najita J, et al. Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study. Genet Med. 2016;18:1011–1019.

  17. 17.

    Schmidlen TJ, Scheinfeldt L, Zhaoyang R, et al. Genetic knowledge among participants in the Coriell Personalized Medicine Collaborative. J Genet Couns. 2016;25:385–394.

  18. 18.

    Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009;19:1665–1674.

  19. 19.

    Lewis KL, Han PK, Hooker GW, Klein WM, Biesecker LG, Biesecker BB. Characterizing participants in the ClinSeq Genome Sequencing Cohort as early adopters of a new health technology. PLoS ONE. 2015;10:e0132690.

  20. 20.

    Kaphingst KA, Facio FM, Cheng MR, et al. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet. 2012;82:408–415.

  21. 21.

    Facio FM, Brooks S, Loewenstein J, Green S, Biesecker LG, Biesecker BB. Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet. 2011;19:1213–1217.

  22. 22.

    James RD, Yu JH, Henrikson NB, Bowen DJ, Fullerton SM, Health Disparities Working Group. Strategies and stakeholders: minority recruitment in cancer genetics research. Community Genet. 2008;11:241–249.

  23. 23.

    Johnson VA, Powell-Young YM, Torres ER, Spruill IJ. A systematic review of strategies that increase the recruitment and retention of African American adults in genetic and genomic studies. ABNF J. 2011;22:84–88.

  24. 24.

    Hughes C, Peterson SK, Ramirez A, et al. Minority recruitment in hereditary breast cancer research. Cancer Epidemiol Biomarkers Prev. 2004;13:1146–1155.

  25. 25.

    Geller G, Tambor ES, Chase GA, Holtzman NA. Measuring physicians’ tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Med Care. 1993;31:989–1001.

  26. 26.

    Scheier MF, Carver CS, Bridges MW. Distinguishing optimism from neuroticism (and trait anxiety, self-mastery, and self-esteem): a reevaluation of the Life Orientation Test. J Pers Soc Psychol. 1994;67:1063–1078.

  27. 27.

    Campbell-Sills L, Stein MB. Psychometric analysis and refinement of the Connor-Davidson Resilience Scale (CD-RISC): validation of a 10-item measure of resilience. J Trauma Stress. 2007;20:1019–1028.

  28. 28.

    John OP, Srivastava S. The Big-Five trait taxonomy: history, measurement and theoretical perspectives. In: Pervin LA, Johns OP, eds. Handbook of personality: theory and research. Vol. 2. New York: Guilford Press; 1999. p. 102–138.

  29. 29.

    Schaa KL, Roter DL, Biesecker BB, Cooper LA, Erby LH. Genetic counselors’ implicit racial attitudes and their relationship to communication. Health Psychol. 2015;34:111–119.

  30. 30.

    FitzGerald C, Hurst S. Implicit bias in healthcare professionals: a systematic review. BMC Med Ethics. 2017;18:19.

  31. 31.

    Marteau T, Dormandy E, Michie S. A measure of informed choice. Health Expect. 2001;4:99–108.

  32. 32.

    Waters EA, Hay JL, Orom H, Kiviniemi MT, Drake BF. “Don’t know” responses to risk perception measures: implications for underserved populations. Med Decis Making. 2013;33:271–281.

  33. 33.

    Bruttomesso D, Gagnayre R, Leclercq D, et al. The use of degrees of certainty to evaluate knowledge. Patient Educ Couns. 2003;51:29–37.

  34. 34.

    Gollust SE, Gordon ES, Zayac C, et al. Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants. Public Health Genomics. 2012;15:22–30.

  35. 35.

    Koehly LM, Peterson SK, Watts BG, Kempf KK, Vernon SW, Gritz ER. A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning. Cancer Epidemiol Biomarkers Prev. 2003;12:304–313.

  36. 36.

    Peay HL, Scharff H, Tibben A, et al. “Watching time tick by…”: decision making for Duchenne muscular dystrophy trials. Contemp Clin Trials. 2016;46:1–6.

  37. 37.

    Rogers EM. Diffusion of innovations. 5th ed. New York: Free Press; 2003.

  38. 38.

    Claes E, Denayer L, Evers-Kiebooms G, et al. Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test. 2005;9:54–65.

Download references


We are grateful to the ClinSeq® participants for their time and thoughtful survey responses. This study was supported by the Intramural Research Program of the National Human Genome Research Institute, grant HG200359 09.

Author information

Author notes

    • Barbara B. Biesecker PhD, MS

    Present address: Research Triangle Institute, Washington, DC, USA


  1. National Human Genome Research Institute, Bethesda, MD, USA

    • Katie L. Lewis ScM
    • , Alexis R. Heidlebaugh BS
    • , Sandra Epps AA
    • , Kristen P. Fishler BS
    • , William M. P. Klein PhD
    • , Ilana M. Miller BS
    • , David Ng MD
    • , Charlotte Hepler AS
    • , Barbara B. Biesecker PhD, MS
    •  & Leslie G. Biesecker MD
  2. Maine Medical Center Research Institute, Portland, Portland, ME, USA

    • Paul K. J. Han MD, MA
  3. National Cancer Institute, Bethesda, MD, USA

    • William M. P. Klein PhD


  1. Search for Katie L. Lewis ScM in:

  2. Search for Alexis R. Heidlebaugh BS in:

  3. Search for Sandra Epps AA in:

  4. Search for Paul K. J. Han MD, MA in:

  5. Search for Kristen P. Fishler BS in:

  6. Search for William M. P. Klein PhD in:

  7. Search for Ilana M. Miller BS in:

  8. Search for David Ng MD in:

  9. Search for Charlotte Hepler AS in:

  10. Search for Barbara B. Biesecker PhD, MS in:

  11. Search for Leslie G. Biesecker MD in:


L.G.B. receives royalties from Genentech Inc., is an unpaid advisor to Illumina Inc., and received honoraria from Wiley-Blackwell Inc. The other authors declare no conflicts of interest.

Corresponding author

Correspondence to Katie L. Lewis ScM.

Electronic supplementary material

About this article

Publication history





Further reading