Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

doi:10.3390/jpm11030202

. 2021 Mar 13;11(3):202.

doi: 10.3390/jpm11030202.

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Sabrina A Suckiel¹, Julianne M O'Daniel², Katherine E Donohue¹, Katie M Gallagher³, Marian J Gilmore⁴, Laura G Hendon⁵, Galen Joseph⁶, Billie R Lianoglou⁷, Jennifer M Mathews⁸, Mary E Norton⁷, Jacqueline A Odgis¹, Alexis F Poss⁸, Shannon Rego⁷, Sarah Scollon⁹, Tiffany Yip⁷, Laura M Amendola¹⁰

Affiliations

¹ The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
³ Department of Pediatrics, Children's Hospital at Montefiore, New York, NY 10467, USA.
⁴ Center for Health Research, Department of Translational and Applied Genomics, Kaiser Permanente Northwest, Portland, OR 97227, USA.
⁵ Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
⁶ Department of Humanities and Social Sciences, University of California, San Francisco, CA 94143, USA.
⁷ Institute for Human Genetics, University of California, San Francisco, CA 94143, USA.
⁸ Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
⁹ Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
¹⁰ Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

PMID: 33805616
PMCID: PMC7998798
DOI: 10.3390/jpm11030202

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Sabrina A Suckiel et al. J Pers Med. 2021.

. 2021 Mar 13;11(3):202.

doi: 10.3390/jpm11030202.

Authors

Affiliations

¹ The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
² Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
³ Department of Pediatrics, Children's Hospital at Montefiore, New York, NY 10467, USA.
⁴ Center for Health Research, Department of Translational and Applied Genomics, Kaiser Permanente Northwest, Portland, OR 97227, USA.
⁵ Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
⁶ Department of Humanities and Social Sciences, University of California, San Francisco, CA 94143, USA.
⁷ Institute for Human Genetics, University of California, San Francisco, CA 94143, USA.
⁸ Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
⁹ Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
¹⁰ Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

PMID: 33805616
PMCID: PMC7998798
DOI: 10.3390/jpm11030202

Abstract

Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This article explores a set of CSER results disclosure cases to expand the evidence base on experiences returning genomic results. Case details were collected using a structured set of questions. We identified common themes in the case set, and assessed challenges and strategies in achieving six relevant results disclosure objectives. CSER-affiliated patient/community stakeholder impressions of the findings were solicited via video conference calls. Seventeen cases across six CSER projects were included. Case themes sorted into four categories: (1) factors influencing participant understanding, (2) participant emotional response, (3) disease burden, and (4) logistical challenges. Challenges meeting results disclosure objectives included a lack of dialogue, health literacy level, unexpected findings, and complex concepts. Strategies were consistent with traditional genetic counseling practice, but also highlighted approaches being evaluated in CSER projects. Patient/community stakeholders supported the identified themes and provided additional suggestions to improve patient understanding and engagement. These experiences add valuable insights into adapting genomic results disclosure practices to best serve all patient populations.

Keywords: exome sequencing; genetic counseling; genome sequencing; genomic sequencing; return of results; underrepresented populations.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

**Figure 1**
Project workflow. This project occurred in five stages: (1) compiling a case set, (2) identifying themes across the case set, (3) defining results disclosure objectives that were related to the Clinical Sequencing Evidence-Generating Research (CSER) projects, (4) identifying challenges and strategies in achieving the results disclosure objectives, and 5) soliciting feedback from CSER patient/community stakeholders.

**Figure 2**
Categorized themes are highlighted in the case set.

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[1] Kullo I.J., Haddad R., Prows C.A., Holm I., Sanderson S.C., Garrison N.A., Sharp R.R., Smith M.E., Kuivaniemi H., Bottinger E.P., et al. Return of results in the genomic medicine projects of the eMERGE network. Front. Genet. 2014;5:50. doi: 10.3389/fgene.2014.00050. - DOI - PMC - PubMed

[2] Kullo I.J., Haddad R., Prows C.A., Holm I., Sanderson S.C., Garrison N.A., Sharp R.R., Smith M.E., Kuivaniemi H., Bottinger E.P., et al. Return of results in the genomic medicine projects of the eMERGE network. Front. Genet. 2014;5:50. doi: 10.3389/fgene.2014.00050. - DOI - PMC - PubMed

[3] Berg J.S., Amendola L.M., Eng C., Van Allen E., Gray S.W., Wagle N., Rehm H.L., DeChene E.T., Dulik M.C., Hisama F.M., et al. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet. Med. Off. J. Am. Coll. Med. Genet. 2013;15:860–867. doi: 10.1038/gim.2013.133. - DOI - PMC - PubMed

[4] Berg J.S., Amendola L.M., Eng C., Van Allen E., Gray S.W., Wagle N., Rehm H.L., DeChene E.T., Dulik M.C., Hisama F.M., et al. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet. Med. Off. J. Am. Coll. Med. Genet. 2013;15:860–867. doi: 10.1038/gim.2013.133. - DOI - PMC - PubMed

[5] Wynn J., Lewis K., Amendola L.M., Bernhardt B.A., Biswas S., Joshi M., McMullen C., Scollon S. Clinical providers’ experiences with returning results from genomic sequencing: An interview study. BMC Med. Genomics. 2018;11:45. doi: 10.1186/s12920-018-0360-z. - DOI - PMC - PubMed

[6] Wynn J., Lewis K., Amendola L.M., Bernhardt B.A., Biswas S., Joshi M., McMullen C., Scollon S. Clinical providers’ experiences with returning results from genomic sequencing: An interview study. BMC Med. Genomics. 2018;11:45. doi: 10.1186/s12920-018-0360-z. - DOI - PMC - PubMed

[7] Schwartz M.L.B., McCormick C.Z., Lazzeri A.L., Lindbuchler D.M., Hallquist M.L.G., Manickam K., Buchanan A.H., Rahm A.K., Giovanni M.A., Frisbie L., et al. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am. J. Hum. Genet. 2018;103:328–337. doi: 10.1016/j.ajhg.2018.07.009. - DOI - PMC - PubMed

[8] Schwartz M.L.B., McCormick C.Z., Lazzeri A.L., Lindbuchler D.M., Hallquist M.L.G., Manickam K., Buchanan A.H., Rahm A.K., Giovanni M.A., Frisbie L., et al. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. Am. J. Hum. Genet. 2018;103:328–337. doi: 10.1016/j.ajhg.2018.07.009. - DOI - PMC - PubMed

[9] Amendola L.M., Lautenbach D., Scollon S., Bernhardt B., Biswas S., East K., Everett J., Gilmore M.J., Himes P., Raymond V.M., et al. Illustrative case studies in the return of exome and genome sequencing results. Personal. Med. 2015;12:283–295. doi: 10.2217/pme.14.89. - DOI - PMC - PubMed

[10] Amendola L.M., Lautenbach D., Scollon S., Bernhardt B., Biswas S., East K., Everett J., Gilmore M.J., Himes P., Raymond V.M., et al. Illustrative case studies in the return of exome and genome sequencing results. Personal. Med. 2015;12:283–295. doi: 10.2217/pme.14.89. - DOI - PMC - PubMed

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Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Affiliations

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

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Cited by

References

Grants and funding

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