Precision Medicine, the practice of targeting prevention and therapies according to an individual’s lifestyle, environment or genetics, holds promise to improve population health outcomes. Within precision medicine, pharmacogenomics (PGX) uses an individual’s genome to determine drug response and dosing to tailor therapy. Most PGX studies have been conducted in European populations, but African Americans have greater genetic variation when compared with most populations. Failure to include African Americans in PGX studies may lead to increased health disparities. PGX studies focused on patients of African American descent are needed to identify relevant population specific genetic predictors of drug responses. Recruitment is one barrier to African American participation in PGX. Addressing recruitment challenges is a significant, yet potentially low-cost solution to improve patient accrual and retention. Limited literature exists about African American participation in PGX research, but studies have explored barriers and facilitators among African American participation in genomic studies more broadly. This paper synthesizes the existing literature and extrapolates these findings to PGX studies, with a particular focus on opportunities for message design. Findings from this review can provide guidance for future PGX study recruitment.
From a public health perspective, the “All of Us” study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for “All of Us” study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples’ motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples’ understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as “early adopters,” therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed.
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