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J Genet Couns. 2018 Sep;27(5):1220-1227. doi: 10.1007/s10897-018-0243-7. Epub 2018 Mar 1.

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

Author information

1
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA. Lauraa7@uw.edu.
2
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, 77030, USA.
3
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
4
Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
5
Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, 19104, USA.
6
HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
7
Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR, 97227, USA.
8
Center for Health Research, Kaiser Permanente Northwest, Portland, OR, 97227, USA.
9
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892, USA.
10
Departments of Pediatrics and Genetics, University of North Carolina-Chapel Hill, Chapel Hill, NC, 27599, USA.
11
Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
12
Department of Pediatrics, Columbia University, New York, NY, 10032, USA.
13
Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, USA.

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:

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

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