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Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1220–1227 | Cite as

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

  • Laura M. Amendola
  • Jill O. Robinson
  • Ragan Hart
  • Sawona Biswas
  • Kaitlyn Lee
  • Barbara A. Bernhardt
  • Kelly East
  • Marian J. Gilmore
  • Tia L. Kauffman
  • Katie L. Lewis
  • Myra Roche
  • Sarah Scollon
  • Julia Wynn
  • Carrie Blout
Original Research

Abstract

Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining genetic testing and participation in genetic studies; however, there is a dearth of literature regarding why potential participants decline participation in GS research, and if any of these reasons are unique to GS. This knowledge is essential to promote informed decision-making and identify potential barriers to research participation and clinical implementation. We aggregated data from seven sites across the National Institutes of Health’s Clinical Sequencing Exploratory Research (CSER) consortium on each project’s procedures for recruitment, and rates of and reasons for decline. Data were analyzed using descriptive statistics. The decline rate for enrollment at the seven CSER sites ranged from 12 to 64% (median 28%) and varied based on age and disease status. Projects differed in their protocols for approaching potential participants and obtaining informed consent. Reasons for declining GS research were reported for 1088 potential participants. Commonly cited reasons were similar to those reported for clinical single gene testing and non-GS genetic research. The most frequently cited reason for decline was study logistics (35%); thus, addressing logistical barriers to enrollment may positively impact GS study recruitment. Privacy and discrimination concerns were cited by 13% of decliners, highlighting the need for researchers and providers to focus educational efforts in this area. The potential psychological burden of pursuing and receiving results from GS and not wanting to receive secondary findings, a concern specific to GS, have been cited as concerns in the literature. A minority of potential participants cited psychological impact (8%) or not wanting to receive secondary findings (2%) as reasons for decline, suggesting that these concerns were not major barriers to participation in these GS studies. Further research is necessary to explore the impact, if any, of different participant groups or study protocols on rates of decline for GS studies. Future studies exploring GS implementation should consider using standardized collection methods to examine reasons for decline in larger populations and more diverse healthcare settings.

Keywords

Exome sequencing Genome sequencing Reason for decline Rate of decline Clinical Sequencing Exploratory Research (CSER) consortium 

Notes

Acknowledgements

We thank Gail Jarvik and Kurt Christensen for their review and comments on drafts of this paper.

Funding Information

CSER Coordinating Center U01HG007307; Hudson Alpha UM1HG007301; NCGenes U01HG006487; Next Medicine U01HG006507; BASIC3 U01HG006485; MedSeq U01HG006500; NextGen UM1HG007292; PediSeq U01HG006546; Columbia Return of Results study and Genomic Consent study R21 HG006596, R01 HG006600, P50 HG007257; and ClinSeq® are supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.

Compliance with Ethical Standards

Conflict of Interest

Laura M. Amendola, Jill O. Robinson, Ragan Hart, Sawona Biswas, Kaitlyn Lee, Barbara A. Bernhardt, Kelly East, Marian J. Gilmore, Tia L. Kauffman, Katie L. Lewis, Myra Roche, Sarah Scollon, Julia Wynn, and Carrie Blout declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). For this type of study, formal consent is not required.

Supplementary material

10897_2018_243_MOESM1_ESM.pdf (674 kb)
Supplementary document 1 provides the survey distributed to participating CSER sites to capture information related to rate of decline, study protocol for approaching and consenting participants and reasons for potential participant decline. (PDF 673 kb)
10897_2018_243_MOESM2_ESM.pdf (474 kb)
Supplementary document 2 provides project materials used by sites who collected reasons for decline responses in multiple-choice format. (PDF 474 kb)

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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  • Laura M. Amendola
    • 1
  • Jill O. Robinson
    • 2
  • Ragan Hart
    • 1
  • Sawona Biswas
    • 3
    • 4
  • Kaitlyn Lee
    • 2
  • Barbara A. Bernhardt
    • 4
  • Kelly East
    • 5
  • Marian J. Gilmore
    • 6
  • Tia L. Kauffman
    • 7
  • Katie L. Lewis
    • 8
  • Myra Roche
    • 9
  • Sarah Scollon
    • 10
  • Julia Wynn
    • 11
  • Carrie Blout
    • 12
  1. 1.Division of Medical Genetics, Department of MedicineUniversity of WashingtonSeattleUSA
  2. 2.Center for Medical Ethics and Health PolicyBaylor College of MedicineHoustonUSA
  3. 3.Department of PediatricsThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Division of Translational Medicine and Human Genetics, Department of MedicinePerelman School of Medicine at The University of PennsylvaniaPhiladelphiaUSA
  5. 5.HudsonAlpha Institute for BiotechnologyHuntsvilleUSA
  6. 6.Department of Medical GeneticsKaiser Permanente NorthwestPortlandUSA
  7. 7.Center for Health ResearchKaiser Permanente NorthwestPortlandUSA
  8. 8.Medical Genomics and Metabolic Genetics BranchNational Human Genome Research InstituteBethesdaUSA
  9. 9.Departments of Pediatrics and GeneticsUniversity of North Carolina-Chapel HillChapel HillUSA
  10. 10.Department of PediatricsBaylor College of MedicineHoustonUSA
  11. 11.Department of PediatricsColumbia UniversityNew YorkUSA
  12. 12.Division of Genetics, Department of MedicineBrigham and Women’s HospitalBostonUSA

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