Genomic sequencing results disclosure in diverse and medically underserved populations: Themes, challenges, and strategies from the cser consortium

Sabrina A. Suckiel, Julianne M. O’daniel, Katherine E. Donohue, Katie M. Gallagher, Marian J. Gilmore, Laura G. Hendon, Galen Joseph, Billie R. Lianoglou, Jennifer M. Mathews, Mary E. Norton, Jacqueline A. Odgis, Alexis F. Poss, Shannon Rego, Sarah Scollon, Tiffany Yip, Laura M. Amendola

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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 meet-ing 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.

Original languageEnglish
Article number202
JournalJournal of Personalized Medicine
Volume11
Issue number3
DOIs
StatePublished - Mar 2021

Keywords

  • Exome sequencing
  • Genetic counseling
  • Genome sequencing
  • Genomic sequencing
  • Return of results
  • Underrepresented populations

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