A comprehensive literature search combining the concepts of GC and CBPR was developed by a science librarian (M.K.) in consultation with a subject matter expert (H.A.Z.) and tested on a set of seed articles. The protocol was registered with the Open Science Framework: https://doi.org/10.17605/OSF.IO/2TVDN. The CBPR component of the search was adapted from Harris Nwanyanwu et al. 2017. Searches were conducted in Medline (via Ovid), Embase Classic + Embase (via Ovid), CINAHL Plus (via EbscoHost), Scopus (via Elsevier), and APA PsycInfo (via Ovid) on February 6, 2023. An update was run on the Embase Classic + Embase search on February 22, 2023, to account for a vendor error that resulted in missing records on the original search date. Searches in all databases were date-limited from 2006 to present. The full search strategy for all databases is available in Supplemental Materials 1. Results from all databases were combined and de-duplicated in Covidence systematic review management software, resulting in a total of n = 3,824 articles to be screened for eligibility.

Inclusion and exclusion criteria were created by authors H.A.Z. (genetic counselor and researcher), P.K. (undergraduate researcher), and E.M.S. (undergraduate researcher) before title and abstract review. Articles included in the review met the following inclusion criteria: 1) published in 2006 or later; 2) peer-reviewed publication; 3) written in English; 4) primary research studies; 5) community-based AND participatory research (e.g. community members or advisors were involved in the research process); 6) focused on the research topics of GC, clinical genetics, genetic testing, genetic service delivery, or genetic implementation studies. Criteria for exclusion included: 1) published before 2006; 2) not peer-reviewed; 3) secondary or tertiary sources (e.g. reviews, book chapters, protocols, etc.); 4) not community-based AND participatory (e.g. studies conducted within a target community but with no involvement of community members/advisors, or articles that involved healthcare professionals rather than community members); 5) studies on any topics not included above (e.g. biobanks, genetic research, direct-to-consumer genetic testing).

Authors P.K. and E.M.S. were the primary reviewers for the abstract and title review stage. Authors H.A.Z. and E.R.F. served as expert, independent reviewers when a consensus could not be reached by the primary reviewers. A series of meetings over six months took place to review batches of articles and resolve disagreements. During the first meeting, all reviewers discussed the first batch of titles/abstracts and further clarified inclusion criteria such as the definition of CBPR using Kwon et al. (2018) and Sheridan et al. (2017) and, more specifically, the level of community participation necessary for inclusion in this review. Titles/abstracts in which the participatory status of the community was unclear were included for further full-text review rather than excluded in this stage. Independent review of all 3,824 articles by the two primary reviewers led to identification of n = 118 conflicts (3.1% conflict rate).

After the abstract and title review was completed by the primary reviewers (P.K. and E.M.S.), the remaining articles (n = 323) were further screened for eligibility by expert reviewers H.A.Z. and E.R.F due to clarification requested by the more novice reviewers (P.K. and E.M.S.) about whether articles were primary, peer-reviewed research studies or about the type of genetics services delivery (e.g. studies were not focused on a clinical genetics service). Subsequently, the remaining articles (n = 68) were pulled for full-text review. Two authors (C.D. and P.K.) independently assessed each full-text article for eligibility and discussed disagreements (n = 2) with expert reviewers E.R.F. and H.A.Z. Articles excluded in the full-text review stage (n = 52) were primarily not participatory (e.g. did not involve community members/advisors in the research process; n = 39 excluded studies) (Fig. 1). Attempted communication with one publication’s corresponding author was used to try to resolve one of the n = 2 full-text conflicts; however, the corresponding author did not respond and therefore the decision was made by H.A.Z. and E.R.F. to exclude this publication from this review.

PRISMA study inclusion flowchart. The review process is described from identification of articles, screening for eligibility using titles and abstracts, and full-text review resulting in sixteen total included studies. Reasons for exclusion are denoted for full-text articles that initially appeared to meet inclusion criteria. *Studies were excluded for multiple reasons in three cases; therefore, the total number of exclusion criteria in the individualized list sums to more than the 52 total excluded studies

Once the final group of articles was established (n = 16), the following general study data were abstracted into tables from each publication by authors C.D., H.A.Z., and E.R.F.: summary/goal of the study (typically obtained from the abstract), study design (e.g. qualitative, quantitative, mixed methods, and summary), clinical specialty (e.g. cancer, pharmacogenomics, etc.), country of origin, population of community members/advisors that participated in the research process, population of community members that acted as human subjects of the research (if different from the community research advisors), type of genetics service (e.g. genetic counseling, genetic education, etc.), outcome(s) of the study (e.g. attitudes, beliefs, frameworks, test results, etc.), and outcome(s) of the community-participatory aspect of the study (Table 1).

Included publications were assessed for the extent to which each study reported involvement of their community partners throughout each phase of the research process (Table 2). The research process included seven possible stages in which community partners could be involved, which was based upon Newman et al. (2011): (1) Research question formation and definition of relevant study outcomes, (2) Recruitment of participants, (3) Planning of study methods and review of study materials, (4) Conduction of research and collection of data, (5) Analysis and interpretation of data, (6) Dissemination of findings, and (7) Creation of products, such as community resources or publications. This information was typically ascertained from the methods section of each article, though the entirety of the article was assessed for CAB involvement. Authors C.D. and P.K. independently collected this data for each article, which was audited by expert authors H.A.Z. and E.R.F.

Lastly, the included studies were assessed for the extent to which each publication reported alignment with a set of “gold standard” principles of CBPR as defined by Israel et al. (1998 and 2010) (Table 3). Each article was reviewed in its entirety for the nine CBPR principles through an iterative process involving independent review and group discussion by reviewers E.R.F. and H.A.Z. CBPR principles are nine-fold: (1) Recognizes the community as a unit of identity, (2) Builds upon the strengths and resources of the community, (3) Facilitates collaborative partnerships in all phases of the research, (4) Integrates knowledge and action for mutual benefit of all partners, (5) Promotes a co-learning and empowering process that attends to social inequalities, (6) Involves a cyclical and iterative process, (7) Addresses health from both positive and ecological perspectives, (8) Disseminates findings and knowledge gained to all partners, and (9) Involves a long-term process and commitment to sustainability (Fig. 2).

Gold standards of community-based participatory research. Nine gold standards of CBPR as defined by Israel et al. (1998 and 2010)

After the data was extracted, reviewed for accuracy, and summarized in tables, authors H.A.Z. and E.R.F. reviewed the data and putative themes with two experts who have experience conducting CBPR and who are members of underrepresented racial/ethnic backgrounds in the U.S. (C.Y.L. and M.R.). The authors discussed how to best present findings, such as how to annotate each article’s reported incorporation of CBPR gold standard principles (Table 3). For example, it was noted that many of the included publications may have incorporated all 9 CBPR gold standard principles, but may not have reported on any of these theoretical concepts within the final publication. Table 3 was correspondingly adjusted to reporting of principles as “No/Not Reported” to account for any discrepancies in reporting of the study versus how the authors and community partnerships may have conducted the study based upon this discussion.

Additionally, the authors concluded that clear reporting guidelines for CBPR would be helpful to better assess the quality of participatory research studies. However, a literature search did not return any widely used CBPR reporting guidelines, and communication with two external CBPR experts regarding the existence of any CBPR reporting guidelines also led to the conclusion that no such guidelines currently exist or are widely used to assess CBPR. Therefore, the authors were unable to utilize any quality reporting guidelines for this review and instead relied on the CBPR gold standard principles described in Israel et al. (1998 and 2010). Authors C.Y.L. and M.R. also reviewed all extracted data tables and the manuscript draft to ensure findings accurately and appropriately addressed the themes discussed with authors H.A.Z. and E.R.F.