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Despite population-wide recommendations by the U.S. Dietary Guidelines for Americans and others to encourage health-promoting dietary patterns, the proportion of Americans following dietary recommendations remains low. The gaps in the adoption and integration of evidence-based dietary interventions, practices, programs, and policies (EBIs) into community and clinical settings signal the need to strengthen efforts in implementation science (IS) in nutrition research to understand and alleviate barriers to adopting and sustaining healthy dietary behaviors and practices. Equally important is the translation of this research into practice in a variety of settings and across the diversity of populations. Recognizing this need, the U.S. National Institutes of Health (NIH) 2020-2030 Strategic Plan for NIH Nutrition Research calls for the expansion of IS as a key opportunity to advancing nutrition research. This commentary highlights three scientific opportunities to stimulate IS in nutrition research and provides examples for each opportunity. These include: (a) Advance consideration of implementation and dissemination early in the design of interventions to facilitate opportunities for equitable scale-up and sustainability of EBIs, (b) Develop and test strategies for equitable implementation of nutrition and diet EBIs in health care and community settings, and (c) Build and strengthen the infrastructure, capacity, and expertise needed to increase use of IS in clinical and community nutrition research to swiftly move the research into practice. By advancing the three opportunities identified in this commentary, the scientific community has the potential to advance the field of nutrition research and IS with the ultimate goal of improving public health.While dietary guidelines have proven effective in clinical studies, most Americans do not follow these tested guidelines. More work is needed to bring research into practice so that all populations can benefit from the research. The U.S. National Institutes of Health recognizes this need and highlights it as a key opportunity in its 2020–2030 Strategic Plan for NIH Nutrition Research. This commentary describes three scientific opportunities that can help to stimulate the research needed to move research into practice, toward the ultimate goal of improving public health.

Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk.To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores (PRS), monogenic risks, family history, and clinical risk assessments via a Genome Informed Risk Assessment (GIRA) report and will assess uptake of care recommendations after return of results.GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022.Return of a novel report for communicating monogenic, polygenic, and family history based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.

BackgroundAccess to and engagement in high-quality HIV medical care and treatment is essential for ending the HIV epidemic. The Health Resources and Services Administration's (HRSA) Ryan White HIV/AIDS Program (RWHAP) plays a critical role in ensuring that people living with diagnosed HIV (PLWH) are linked to and consistently engaged in high quality care and receive HIV medication in a timely manner. State variation in HIV prevalence, the proportion of PLWH served by the RWHAP, and local health care environments could influence the state-specific impact of the RWHAP. This analysis sought to measure the state-specific impact of the RWHAP on the HIV service delivery system and health outcomes for PLWH, and presents template language to communicate this impact for state planning and stakeholder engagement.Methods and findingsThe HRSA's HIV/AIDS Bureau (HAB) and the Centers for Disease Control and Prevention's Division of HIV/AIDS Prevention (CDC DHAP) have developed a mathematical model to estimate the state-specific impact of the RWHAP. This model was parameterized using RWHAP data, HIV surveillance data, an existing CDC model of HIV transmission and disease progression, and parameters from the literature. In this study, the model was used to analyze the hypothetical scenario of an absence of the RWHAP and to calculate the projected impact of this scenario on RWHAP clients, RWHAP-funded providers, mortality, new HIV cases, and costs compared with the current state inclusive of the RWHAP. To demonstrate the results of the model, we selected two states, representing high HIV prevalence and low HIV prevalence areas. These states serve to demonstrate the functionality of the model and how state-specific results can be translated into a state-specific impact statement using template language.ConclusionsIn the example states presented, the RWHAP provides HIV care, treatment, and support services to a large proportion of PLWH in each state. The absence of the RWHAP in these states could result in substantially more deaths and HIV cases than currently observed, resulting in considerable lifetime HIV care and treatment costs associated with additional HIV cases. State-specific impact statements may be valuable in the development of state-level HIV prevention and care plans or for communications with planning bodies, state health department leadership, and other stakeholders. State-specific impact statements will be available to RWHAP Part B recipients upon request from HRSA's HIV/AIDS Bureau.

Discussions about direct-to-consumer (DTC) DNA ancestry tests have to date been based primarily on conjectures, speculation, and anecdotes, despite the industry being more than a decade old. Representative, empirical data on consumer characteristics; motivations and expectations for testing; intended uses for the information; understanding of results; and behavioral and psychological reactions to the tests are absent. Although the 2010 American Society of Human Genetics white paper clarifies the number and some general characteristics of companies marketing and selling DNA ancestry tests, additional data about the industry’s practices have been unavailable. To promote a data-driven discussion of the DNA ancestry testing industry, we conducted a systematic investigation to identify companies selling DNA ancestry tests and conducted an empirical study of the industry’s practices using data collected from each company’s website. Here, we present a wealth of data, including an updated directory of companies, marketing slogans, product types and names, range of prices, diversity of reporting and representing results, noted benefits and limitations of testing, and a host of website practices. The tremendous diversity of tests, information, and practices of companies in the DNA ancestry sector should be considered when policies for best practice guidelines or regulatory oversight are being developed. Genet Med 2012:14(6):586–593

Purpose: Nutrigenomic researchers hope to improve health through personalized nutrition, but many consider the sale of nutrigenomic services to be premature. Few studies have evaluated the promotion and sales practices of organizations hosting nutrigenomic websites. Methods: Systematic search and analysis of websites promoting nutrigenomic services in October 2006. Results: Of the 64 organizations hosting websites, 29 organizations offered (24 of 29) or promoted (5 of 29) at-home testing and 26 organizations sold services on-line (17 of 26) or provided a direct link to on-line sales (9 of 26). A lack of transparency made it difficult to identify unique tests; however, three organizations were linked to 56% of all test mentions. Most organizations were healthcare/wellness service providers (50%) or laboratories/biotech companies (27%). Few organizations provided on-line information about laboratory certifications (20%), nutrigenomic test or research limitations (13%), test validity or utility (11%), or genetic counseling (9%). Affiliation opportunities were offered by 15 organizations. Conclusions: Organizations did not provide adequate information about nutrigenomic services and at-home genetic testing. Affiliation opportunities and distribution agreements suggest the promotion and sale of nutrigenomic services will continue, increasing the importance of consumer and provider education. In absence of federal regulation, organizations promoting nutrigenomic services should equate websites to product labels and include information to facilitate informed decision-making.

Purpose: To explore the views of university-based investigators conducting genetic research with human specimens regarding ownership and retention of specimens, and knowledge of related institutional review board and university policies. Methods: Data were collected in three phases: a qualitative pilot study of 14 investigators; a web-based survey taken by 80 investigators; and follow-up, in-depth interviews with 12 survey respondents. Results: Investigators named a variety of single or multiple owners of human specimens and often expressed confusion regarding specimen ownership. Most associated ownership with rights to control, and responsibilities to maintain, specimens. Investigators viewed specimens as “precious” resources whose value could be increased through long-term or infinite retention, particularly in light of anticipated technological advances in genome science. Their views on ownership and retention were shaped by perceptions of institutional review board policies as immortalized in subject informed consent documents, rather than knowledge of actual policies. Conclusion: Long-term retention of human specimens makes confusion about ownership particularly problematic. Given findings that investigators' views on ownership and retention are largely guided by their perception of university policies, the need for clear, consistent policies at the institution level is urgent.

Scientists are turning to genetic variation research in hopes of addressing persistent racial/ethnic disparities in health. Despite ongoing controversy, the advancement of genetic variation research is likely to produce new knowledge and technologies that will substantially change the ways in which we understand and value health. They also may affect the ways in which individuals and groups organize socially, politically, and economically.Addressing concerns that may exist in different communities is vital to the scientific and ethical advancement of genetic variation research. We review empirical studies of public willingness to participate in and opinions about genetic research with particular attention to differences in consent and opinion by racial/ethnic group membership.