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

Author:

Griesemer Ida12ORCID,Staley Brooke S3ORCID,Lightfoot Alexandra F14ORCID,Bain Lizzy5,Byrd Derrick6,Conway Carol7,Grant Tracey L8,Leach Barbara9,Milko Laura8ORCID,Mollison Lonna8,Porter Nadiah10,Reid Sharron11,Smith Gerri12,Waltz Margaret13,Berg Jonathan S8ORCID,Rini Christine14,O'Daniel Julianne M8ORCID

Affiliation:

1. Department of Health Behavior, UNC Chapel Hill, Chapel Hill, NC, USA

2. Cecil G. Sheps Center for Health Services Research, UNC Chapel Hill, Chapel Hill NC, USA

3. Department of Epidemiology, UNC Chapel Hill, Chapel Hill, NC, USA

4. Center for Health Promotion & Disease Prevention, UNC Chapel Hill, Chapel Hill, NC, USA

5. Parent/Advocate, Knightdale, NC, USA

6. Parent/Advocate, Family Resource Center South Atlantic, Raleigh, NC, USA

7. Parent/Advocate, Parent Advocates for Adult Children with Intellectual &/or Developmental Disabilities in NC, Chapel Hill, NC, USA

8. Department of Genetics, UNC Chapel Hill, Chapel Hill, NC, USA

9. Parent/Advocate, Family Support Program, School of Social Work, UNC Chapel Hill, Chapel Hill, NC, USA

10. Parent/Advocate, Durham, NC, USA

11. Parent/Advocate, Wake County Sickle Cell Support Group, Raleigh, NC, USA

12. Parent/Advocate, Holly Springs, NC, USA

13. Department of Social Medicine, UNC Chapel Hill, Chapel Hill, NC, USA

14. Department of Medical Social Sciences, Feinberg School of Medicine & Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL, USA

Abstract

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.

Funder

National Center for Advancing Translational Sciences

Agency for Healthcare Research and Quality

National Human Genome Research Institute

National Cancer Institute

Publisher

Future Medicine Ltd

Subject

Pharmacology,Molecular Medicine,General Medicine

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