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

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.

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

“…We found that the vulnerability of parents in this setting was clear and parents spoke about doing anything to help their child. They put aside concerns around data sharing and insurance, which are the commonly cited reasons for declining genomic sequencing in other settings [ 28 ]. When reflecting on being offered RGS parents felt the choice was straightforward, they had sufficient information and time to make a decision and none reported regretting their decision, which are all indicators of informed decision making.…”

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

“…Barriers to participation in genomic research studies include lack of community engagement, mistrust on the part of the patient, logistical barriers, and privacy and discrimination concerns. 31,32 These barriers are likely exacerbated in underserved populations. Additional challenges for genomic medicine implementation research in underserved groups include a lack of diversity in the scientific community, smaller sample sizes, and the analytical challenges faced when studying participants of mixed ancestry.…”

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study

“…Since previous reports have described concerns about privacy and discrimination as being potential barriers to participation in genetic research, 25,32,33 we were apprehensive about how placement of genetic results in the EHR might impact recruitment. Interestingly, few potential participants declined when invited in-person, possibly because they had a trusting relationship with the medical team, and few of them reported privacy or discrimination concerns.…”