Engaging community stakeholders in research on best practices for clinical genomic sequencing

Per Med. 2020 Nov;17(6):435-444. doi: 10.2217/pme-2020-0074. Epub 2020 Oct 7.


Aim: Maximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, and communities. The NCGENES 2 study explores the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. Methods: A Community Consult Team (CCT) of diverse parents and advocates for children with genetic and/or neurodevelopmental conditions was formed. Results: Early and consistent engagement with the CCT resulted in adaptations to study protocol and materials relevant to this unique study population. Discussion: This study demonstrates valuable contributions of community stakeholders to inform the implementation of translational genomics research for diverse participants.

Keywords: clinical trial; community engagement; community–academic partnerships; diagnostic odyssey; genetics; genomic sequencing; health equity; health services research; precision medicine; underserved populations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Benchmarking / methods
  • Child
  • Chromosome Mapping
  • Female
  • Genomics / methods*
  • Genomics / trends
  • Humans
  • Male
  • Middle Aged
  • Practice Guidelines as Topic / standards
  • Proteomics
  • Public Health / methods*
  • Stakeholder Participation / psychology*
  • Whole Genome Sequencing / methods
  • Whole Genome Sequencing / trends