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Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening



Multiple efforts are underway to increase the inclusion of racial minority participants in genomic research and new forms of individualized medicine. These efforts should include studies that characterize how individuals from minority communities experience genomic medicine in diverse health-care settings and how they integrate genetic knowledge into their understandings of health-care needs.


As part of a large, multisite genomic sequencing study, we surveyed individuals to assess their decision to pursue genomic risk evaluation. Participants included Latino patients recruited at Mountain Park Health Center, a Federally Qualified Health Center in Phoenix, Arizona, and non-Latino patients recruited at a large academic medical center (Mayo Clinic in Rochester, MN). Both groups agreed to receive individualized genomic risk assessments.


Comparisons between cohorts showed that Latino respondents had lower levels of decisional conflict about pursuing genomic screening but generally scored lower on genetic knowledge. Latino respondents were also more likely to have concerns about the misuse of genomic information, despite both groups having similar views about the value of genomic risk evaluation.


Our results highlight the importance of evaluating sociocultural factors that influence minority patient engagement with genomic medicine in diverse health-care settings.

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Data availability

Survey data may be made available on a case by case basis by contacting the principal investigator of the study.


  1. 1.

    Sankar, P. et al. Genetic research and health disparities. JAMA. 291, 2985–2989 (2004).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  2. 2.

    Popejoy, A. B. & Fullerton, S. M. Genomics is failing on diversity. Nature. 538, 161–164 (2016).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  3. 3.

    Hinchcliff, E. M., Bednar, E. M., Lu, K. H. & Rauh-Hain, J. A. Disparities in gynecologic cancer genetics evaluation. Gynecol. Oncol. 153, 184–191 (2019).

    PubMed  PubMed Central  Article  Google Scholar 

  4. 4.

    Manrriquez, E., Chapman, J. S., Mak, J., Blanco, A. M. & Chen, L. M. Disparities in genetics assessment for women with ovarian cancer: can we do better? Gynecol. Oncol. 149, 84–88 (2018).

    PubMed  Article  Google Scholar 

  5. 5.

    Cruz-Correa, M. et al. Clinical cancer genetics disparities among Latinos. J. Genet. Couns. 26, 379–386 (2017).

    PubMed  Article  Google Scholar 

  6. 6.

    Nikolaidis, C. et al. Disparities in genetic services utilization in a random sample of young breast cancer survivors. Genet. Med. 21, 1363–1370 (2019).

    PubMed  Article  Google Scholar 

  7. 7.

    Manrai, A. K. et al. Genetic misdiagnoses and the potential for health disparities. N. Engl. J. Med. 375, 655–665 (2016).

    PubMed  PubMed Central  Article  Google Scholar 

  8. 8.

    Spratt, D. E. et al. Racial/ethnic disparities in genomic sequencing. JAMA Oncol. 2, 1070–1074 (2016).

    PubMed  PubMed Central  Article  Google Scholar 

  9. 9.

    Hindorff, L. A., Bonham, V. L. & Ohno-Machado, L. Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine. Pers. Med. 15, 403–412 (2018).

    CAS  Article  Google Scholar 

  10. 10.

    Bentley, A. R., Callier, S. & Rotimi, C. N. Diversity and inclusion in genomic research: why the uneven progress? J. Community Genet. 8, 255–266 (2017).

    PubMed  PubMed Central  Article  Google Scholar 

  11. 11.

    Knerr, S., Wayman, D. & Bonham, V. L. Inclusion of racial and ethnic minorities in genetic research: advance the spirit by changing the rules? J. Law Med. Ethics 39, 502–512 (2011).

    PubMed  PubMed Central  Article  Google Scholar 

  12. 12.

    Landry, L. G., Ali, N., Williams, D. R., Rehm, H. L. & Bonham, V. L. Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice. Health Aff. (Millwood) 37, 780–785 (2018).

    Article  Google Scholar 

  13. 13.

    Hindorff, L. A. et al. Prioritizing diversity in human genomics research. Nat. Rev. Genet. 19, 175–185 (2018).

    CAS  PubMed  Article  Google Scholar 

  14. 14.

    Popejoy, A. B. et al. The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics. Hum. Mutat. 39, 1713–1720 (2018).

    PubMed  PubMed Central  Article  Google Scholar 

  15. 15.

    Wolf, S. M., Bonham, V. L. & Bruce, M. A. How can law support development of genomics and precision medicine to advance health equity and reduce disparities? Ethn. Dis. 29, 623–628 (2019).

    PubMed  PubMed Central  Article  Google Scholar 

  16. 16.

    Bustamante, C. D., De La Vega, F. M. & Burchard, E. G. Genomics for the world. Nature. 475, 163–165 (2011).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  17. 17.

    Denny, J. C. et al. The “All of Us” Research Program. N. Engl. J. Med. 381, 668–676 (2019).

    PubMed  Article  Google Scholar 

  18. 18.

    Hoskins, K. F. et al. A feasibility study of breast cancer genetic risk assessment in a federally qualified health center. Cancer. 124, 3733–3741 (2018).

    PubMed  PubMed Central  Article  Google Scholar 

  19. 19.

    Kaphingst, K. A., Stafford, J. D., McGowan, L. D., Seo, J., Lachance, C. R. & Goodman, M. S. Effects of racial and ethnic group and health literacy on responses to genomic risk information in a medically underserved population. Health Psychol. 34, 101–110 (2015).

    PubMed  PubMed Central  Article  Google Scholar 

  20. 20.

    Komenaka, I. K. et al. Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety net institution. J. Community Genet. 7, 177–183 (2016).

    PubMed  Article  Google Scholar 

  21. 21.

    Rana, H. Q. et al. A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings. J. Community Genet. 9, 233–241 (2018).

    PubMed  Article  Google Scholar 

  22. 22.

    Sanderson, S. C. et al. Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study. J. Community Genet. 4, 469–482 (2013).

    PubMed  PubMed Central  Article  Google Scholar 

  23. 23.

    Kullo, I. J. et al. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: design and initial results. Mayo Clin. Proc. 93, 1600–1610 (2018).

    PubMed  PubMed Central  Article  Google Scholar 

  24. 24.

    Shaibi, G. Q. et al. Developing a process for returning medically actionable genomic variants to Latino patients in a Federally Qualified Health Center. Public Health Genomics 21, 77–84 (2018).

    PubMed  PubMed Central  Article  Google Scholar 

  25. 25.

    Olson, J. E. et al. The Mayo Clinic Biobank: a building block for individualized medicine. Mayo Clin. Proc. 88, 952–962 (2013).

    PubMed  PubMed Central  Article  Google Scholar 

  26. 26.

    Ye, Z., Kalloo, F. S., Dalenberg, A. K. & Kullo, I. J. An electronic medical record-linked biorepository to identify novel biomarkers for atherosclerotic cardiovascular disease. Glob. Cardiol. Sci. Pract. 2013, 82–90 (2013).

    PubMed  PubMed Central  Google Scholar 

  27. 27.

    Kalia, S. S. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet. Med. 19, 249–255 (2017).

    Article  Google Scholar 

  28. 28.

    Shaibi, G. et al. The Sangre Por Salud Biobank: facilitating genetic research in an underrepresented Latino community. Public Health Genomics 19, 229–238 (2016).

    PubMed  PubMed Central  Article  Google Scholar 

  29. 29.

    Sutton, E. J., Kullo, I. J. & Sharp, R. R. Making pretest genomic counseling optional: lessons from the RAVE study. Genet. Med. 20, 1157–1158 (2018).

    PubMed  PubMed Central  Article  Google Scholar 

  30. 30.

    O’Connor, A. M. Validation of a decisional conflict scale. Med. Decis. Making 15, 25–30 (1995).

    PubMed  Article  Google Scholar 

  31. 31.

    Brehaut, J. C. et al. Validation of a decision regret scale. Med. Decis. Making 23, 281–292 (2003).

    PubMed  Article  Google Scholar 

  32. 32.

    O’Connor, A. M. User manual—Decisional Conflict Scale. (2010).

  33. 33.

    Kaphingst, K. A. et al. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin. Genet. 82, 408–415 (2012).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  34. 34.

    Chew, L. D. et al. Validation of screening questions for limited health literacy in a large VA outpatient population. J. Gen. Intern. Med. 23, 561–566 (2008).

    PubMed  PubMed Central  Article  Google Scholar 

  35. 35.

    Pacyna, J. E. et al. Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study. J. Med. Genet. 56, 317–324 (2019).

    PubMed  Article  Google Scholar 

  36. 36.

    Fay, M. P. Two-sided exact tests and matching confidence intervals for discrete data. R J 2, 53 (2010).

    Article  Google Scholar 

  37. 37.

    Jacobson, H. E., Hund, L. & Soto Mas, F. Predictors of English health literacy among U.S. Hispanic immigrants: the importance of language, bilingualism and sociolinguistic environment. Liter. Numer. Stud. 24, 43–64 (2016).

    Article  Google Scholar 

  38. 38.

    Pérez-Stable, E. J., Sabogal, F., Otero-Sabogal, R., Hiatt, R. A. & McPhee, S. J. Misconceptions about cancer among Latinos and Anglos. JAMA. 268, 3219–3223 (1992).

    PubMed  Article  Google Scholar 

  39. 39.

    Zamudio, C. D., Sanchez, G., Altschuler, A. & Grant, R. W. Influence of language and culture in the primary care of Spanish-speaking Latino adults with poorly controlled diabetes: a qualitative study. Ethn. Dis. 27, 379–386 (2017).

    PubMed  PubMed Central  Article  Google Scholar 

  40. 40.

    Abraído-Lanza, A. E., Viladrich, A., Flórez, K. R., Céspedes, A. Aguirre, A. N. & De La Cruz, A. A. Commentary: fatalismo reconsidered: a cautionary note for health-related research and practice with Latino populations. Ethn. Dis. 17, 153–158 (2007).

    PubMed  PubMed Central  Google Scholar 

  41. 41.

    Velasco-Mondragon, E., Jimenez, A., Palladino-Davis, A. G., Davis, D. & Escamilla-Cejudo, J. A. Hispanic health in the USA: a scoping review of the literature. Public Health Rev. 37, 31 (2016).

    PubMed  PubMed Central  Article  Google Scholar 

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The authors acknowledge the contributions of the late Carmen Radecki Breitkopf to this work. This study was supported by a grant from the US National Institutes of Health (U01 HG006379) and by the Mayo Clinic Center for Individualized Medicine.

Author information




Conceptualization: J.E.P., G.Q.S., E.J.S., R.R.S. Formal analysis: J.E.P., A.L., J.O., R.R.S. Funding acquisition: I.J.K., R.R.S. Methodology: J.E.P., G.Q.S., A.L., J.O., E.J.S., R.R.S. Project administration: J.E.P. Supervision: G.Q.S., V.H., N.M.L., D.S., I.J.K., R.R.S. Visualization: J.E.P. Writing—original draft: J.E.P. Writing—review & editing: G.Q.S., A.L., J.O., I.C., E.J.S., V.H., N.M.L., D.S., I.J.K., R.R.S.

Corresponding author

Correspondence to Richard R. Sharp.

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The authors declare no competing interests.

Ethics declaration

This survey study was embedded in two parent genomic sequencing studies, each of which was reviewed and approved by the Mayo Clinic Institutional Review Board (#15–005013 and #16-004342). Written informed consent was obtained for all participants.

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Pacyna, J.E., Shaibi, G.Q., Lee, A. et al. Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening. Genet Med 23, 934–941 (2021).

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