TY - JOUR
T1 - Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort
AU - Lewis, Katie L.
AU - Heidlebaugh, Alexis R.
AU - Epps, Sandra
AU - Han, Paul K.J.
AU - Fishler, Kristen P.
AU - Klein, William M.P.
AU - Miller, Ilana M.
AU - Ng, David
AU - Hepler, Charlotte
AU - Biesecker, Barbara B.
AU - Biesecker, Leslie G.
N1 - Funding Information:
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.
Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.
PY - 2019/6/1
Y1 - 2019/6/1
N2 - 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 (x̅s = 5.1, ranges: 0–10), and less than the original cohort (x̅= 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.
AB - 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 (x̅s = 5.1, ranges: 0–10), and less than the original cohort (x̅= 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.
KW - diversity
KW - early adopters
KW - genome sequencing
KW - informed choice
KW - recruitment
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U2 - 10.1038/s41436-018-0341-9
DO - 10.1038/s41436-018-0341-9
M3 - Article
C2 - 30382154
AN - SCOPUS:85055991390
VL - 21
SP - 1355
EP - 1362
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 6
ER -