The research participant perspective related to the conduct of genomic cohort studies: A systematic review of the quantitative literature

Abstract

Observational genome-wide association studies require large sample sizes. Evaluating the interplay between genomic, environmental, and lifestyle factors can require even larger sample sizes. The All of Us Research Program will recruit 1 million participants to facilitate research on genomic, environmental, and lifestyle factors. Integrating participant preferences into the research process is a new paradigm and a necessary component of the All of Us Research Program. The purpose of the study is to summarize quantitative studies of participant preferences related to participation in observational genomic research studies, starting with consent through return of results. Integrating this information into the conduct of genomic studies may benefit participants, and improve participant satisfaction, recruitment, and retention. We conducted a systematic review of the literature regarding participant views related to reconsent and broad consent, use of de-identified data, contribution of data to a biorepository, risk of identification, return of individual genetic results, and motivation for participation in genomic studies. Twenty-three articles met our inclusion and exclusion criteria. Study results found that most participants support broad consent; however, significant differences related to reconsent preferences have been shown by gender and age. Most participants support the return of individual genomic results and do not feel it is necessary to maintain a link to their de-identified data. Reasons given for joining research studies varied by population source. These findings, in addition to the knowledge that participants are more accepting of broad informed consent methods when the rationale is explained, can assist in developing guidelines for future observational genomic research.

Developing model biobanking consent language: what matters to prospective participants?

“…Public, patient, and participant perspectives on biobank and genomic cohort research have been the frequent subject of previous research [22][23][24][25]. These studies have oftentimes been conducted using a narrative description of the research endeavor.…”

“…I think this is one of my favorite ones out of all of them because it's showing … the breakdown of it … It's really interesting to see-this shows me what they're looking for. (24) This included the possibility that new products might be developed:…”

“…Protection against objectionable use: Many participants were reassured by a sentence reemphasizing the objective of the biobank: "[The sentence that says] 'The goal of the Million American Study is to make discoveries that improve health for everyone'to me, that makes me feel like they actually care." (24) Availability of information about studies and aggregate results: Some were reassured that they could learn about studies being done through the biobank. As one commented, "I think it's a great idea to be able to go to a website to pull up the studies.…”

Understanding Participation in Genetic Research Among Patients With Multiple Sclerosis: The Influences of Ethnicity, Gender, Education, and Age

“…Similarly, some studies enroll patients who are from the general population of patients in both hospital and nonhospital setting (Sanderson et al, 2013;Walker et al, 2014;Jones et al, 2017), while others assess factors associated with participation among patients with specific diseases (Parikh et al, 2017). This is an important distinction as motivational factors vary considerably depending on the type of study and population (e.g., clinical trial vs. observational study, disease group vs. healthy population) (Goodman et al, 2018;Goodman et al, 2019). Further, the set of reasons that motivate healthy individuals to participate is likely very different from reasons that motivate individuals with specific diseases.…”

Introduction to the Special Issue on Clinical and Public Health Genomics: Opportunities for translational behavioral medicine research, practice, and policy

“…Research participants, genomic researchers, and Institutional Review Board (IRB) professionals held differing perspectives, with researchers reporting less concern than participants or IRB professionals about the possibility that participants could be personally identified or harmed from a study involving de-identified data. Expanding on participant perspectives, a second work by Goodman et al [18] conducted a systematic review to identify participant views related to consent, use of de-identified genomic data, and return of individual genomic results. While most participants supported the return of individual genomic results and broad informed consent, differences in views about consent were evident across participant age and gender.…”