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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

Subjects

Abstract

Purpose

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

Methods

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.

Results

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.

Conclusion

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.

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Acknowledgements

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

Affiliations

  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

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Disclosure

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.

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DOI

https://doi.org/10.1038/s41436-018-0341-9