Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify, inform, and manage those who are also at risk. We conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. We searched for relevant peer-reviewed literature in the period 1990–2017 and reviewed 122 studies. Finally, we described 45 statutes and regulations related to the use and release of genetic information across the fifty states. We sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but we found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach. Major barriers to cascade screening delivery include suboptimal communication between the proband and family and geographic barriers to obtaining genetic services. Few US studies examined interventions for cascade screening or used rigorous study designs such as randomized controlled trials. Moving forward, there remains an urgent need to conduct rigorous intervention studies on cascade screening in diverse US populations, while accounting for state policy considerations.

Purpose: The objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine. Methods: We conducted a literature review using the Centers for Disease Control and Prevention’s Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed. Results: Our final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building. Conclusion: Although genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine. Genet Med advance online publication 12 January 2017

We examined the current literature to understand factors that influence endocrine therapy (ET) adherence among racial/ethnic and socioeconomic subpopulations of breast cancer patients. We searched PubMed and PsycINFO databases for studies from January 1, 1978, to June 20, 2014, and January 1, 1991, to June 20, 2014, respectively, and hand-searched articles from relevant literature reviews. We abstracted and synthesized results within a social ecological framework.Fourteen articles met all inclusion criteria. The majority of included articles reported significant underuse of ET among minority and low-income women. Modifiable intrapersonal, interpersonal, and community-level factors are associated with ET use, and these factors vary across subgroups.Both race/ethnicity and socioeconomic status are associated with ET use in most settings. Variation in factors associated with ET use across subgroups indicates the need for more nuanced research and targeted interventions among breast cancer patients.