Megan C. Roberts

The current state of implementation science in genomic medicine: opportunities for improvement

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

Population-based precision cancer screening: a symposium on evidence, epidemiology, and next steps

Precision medicine, an emerging approach for disease treatment that takes into account individual variability in genes, environment, and lifestyle, is under consideration for preventive interventions, including cancer screening. On September 29, 2015, the National Cancer Institute sponsored a symposium entitled “Precision Cancer Screening in the General Population: Evidence, Epidemiology, and Next Steps”. The goal was two-fold: to share current information on the evidence, practices, and challenges surrounding precision screening for breast, cervical, colorectal, lung, and prostate cancers, and to allow for in-depth discussion among experts in relevant fields regarding how epidemiology and other population sciences can be used to generate evidence to inform precision screening strategies. Attendees concluded that the strength of evidence for efficacy and effectiveness of precision strategies varies by cancer site, that no one research strategy or methodology would be able or appropriate to address the many knowledge gaps in precision screening, and that issues surrounding implementation must be researched as well. Additional discussion needs to occur to identify the high priority research areas in precision cancer screening for pertinent organs and to gather the necessary evidence to determine whether further implementation of precision cancer screening strategies in the general population would be feasible and beneficial. Cancer Epidemiol Biomarkers Prev; 25(11); 1449–55. ©2016 AACR.

Twitter use at the 2016 Conference on the Science of Dissemination and Implementation in Health: analyzing #DIScience16

BackgroundPoor dissemination of research findings may hamper the reach and impact of scientific discoveries. One key emerging platform for research dissemination is social media, including Twitter. While Twitter and other social media are increasingly being used to disseminate research content presented during scientific conferences, few studies have investigated the extent to which these tools are used throughout conferences and how they are being used. The aim for this study was to better understand the use of Twitter during the 2016 Annual Conference on the Science of Dissemination and Implementation in Health (D&I conference).MethodsWe performed an analysis of Twitter use before, during, and after the 2016 D&I conference, which took place from December 14 to 15. All tweets (posted between December 1 and 31) that included the conference-specific hashtag (#DIScience16) were assessed. We identified 2639 tweets using the data analytics platform NUVI. We used NUVI software to generate statistics about reach, influence, mentions, and origin of the tweets. Individual tweet content was also assessed using DiscoverText and coded for disease category, implementation outcomes discussed, category of tweet, and conference track.ResultsA total of 2639 tweets were analyzed; 89.1% of the tweets were posted during the conference. A total of 389 unique users participated on Twitter, representing 31 states and 22 locations outside of the USA. Most (56.8%) tweets were re-tweets and were used for scientific promotion (50.6%). Key conference speakers and implementation outcomes (de-implementation, adaptation, and fidelity) were commonly discussed.ConclusionsOur findings reveal that Twitter was used as a platform during the D&I conference, both to facilitate conference discussion and to promote scientific ideas. This work contributes to the existing data analytics and implementation science literature in two major ways: (1) by advancing knowledge of how social media is used during annual academic conferences and (2) by providing a deeper understanding of themes and emerging areas of interest in the dissemination and implementation sciences. Knowing specific topics of interest can help planners and scientists better understand the landscape of current and future implementation research and encourage new research dissemination strategies.

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes

Given familial implications of genetic information, it is important to understand intentions to share carrier results with family members. To our knowledge, no studies among individuals undergoing exome sequencing have used dyadic data analysis to examine the effect of spousal perceptions and beliefs. Survey responses from 136 individuals (68 couples) undergoing exome sequencing in a research study were analyzed using dyadic analysis (the actor-partner interdependence model). Intention to share carrier results with family members was correlated between spouses (ICC = 0.43; 95% CI: 0.21–0.61; p = 0.004), as was worry about risk of a genetic condition in the family (ICC = 0.45; 95% CI: 0.24–0.62; p < 0.001). Perceived value of result and worry about risk of a genetic condition in the family were associated with one’s own intentions to share carrier results. However, spousal status on these variables did not explain additional variance in an individual’s intentions. Although we found no partner effects on intentions, spouses have comparable intentions to share carrier results, suggesting it may be important to account for non-independence in other research studies.

A Qualitative Comparative Analysis of Combined State Health Policies Related to Human Papillomavirus Vaccine Uptake in the United States

Objectives To examine how combinations of state policies, rather than single policies, are related to uptake of human papillomavirus (HPV) vaccine. Methods Using publicly available records and the literature, we characterized policies for each US state and Washington, DC, in 2015 (n = 51), including (1) Medicaid expansion, (2) policies permitting HPV vaccination in pharmacies, (3) school-entry requirements, (4) classroom sex education mandates, and (5) parental education mandates. Using qualitative comparative analysis, we identified which existing combinations of these policies were necessary and sufficient for high HPV vaccine initiation among adolescents, with National Immunization Survey-Teen data. Results No single policy was necessary or sufficient for high HPV vaccine uptake; however, 1 set of policies had consistently high HPV vaccine uptake: adoption of all policies except parental education mandates (girls: consistency = 1.00, coverage = 0.07; boys: consistency = 0.99, coverage = 0.08). Conclusions We identified a set of polices related to high HPV vaccine uptake. Future studies should examine how these policies and others, individually and in combination, are associated with HPV vaccine uptake. Public Health Implications This study provides insight into what sets of policies are consistently related to high HPV vaccine uptake.

The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis

Purpose Implementation science offers methods to evaluate the translation of genomic medicine research into practice. The extent in which the NIH human genomics grant portfolio includes implementation science is unknown. This brief report’s objective is to describe recently funded implementation science studies in genomic medicine in the NIH grant portfolio, and identify remaining gaps. Methods We identified investigator-initiated NIH research grants on implementation science in genomic medicine (funding initiated 2012–2016). A codebook was adapted from the literature, three authors coded grants, and descriptive statistics were calculated for each code. Results 42 grants fit the inclusion criteria (~1.75% of investigator-initiated genomics grants). The majority of included grants proposed qualitative and/or quantitative methods with cross sectional study designs, and described clinical settings and primarily white, non-Hispanic study populations. Most grants were in oncology and examined genetic testing for risk assessment. Finally, grants lacked the use of implementation science frameworks, and most examined uptake of genomic medicine and/or assessed patient centeredness. Conclusion We identified large gaps in implementation science studies in genomic medicine in the funded NIH portfolio over the past five years. To move the genomics field forward, investigator-initiated research grants should employ rigorous implementation science methods within diverse settings and populations.PurposeImplementation science offers methods to evaluate the translation of genomic medicine research into practice. The extent to which the National Institutes of Health (NIH) human genomics grant portfolio includes implementation science is unknown. This brief report’s objective is to describe recently funded implementation science studies in genomic medicine in the NIH grant portfolio, and identify remaining gaps.MethodsWe identified investigator-initiated NIH research grants on implementation science in genomic medicine (funding initiated 2012–2016). A codebook was adapted from the literature, three authors coded grants, and descriptive statistics were calculated for each code.ResultsForty-two grants fit the inclusion criteria (~1.75% of investigator-initiated genomics grants). The majority of included grants proposed qualitative and/or quantitative methods with cross-sectional study designs, and described clinical settings and primarily white, non-Hispanic study populations. Most grants were in oncology and examined genetic testing for risk assessment. Finally, grants lacked the use of implementation science frameworks, and most examined uptake of genomic medicine and/or assessed patient-centeredness.ConclusionWe identified large gaps in implementation science studies in genomic medicine in the funded NIH portfolio over the past 5 years. To move the genomics field forward, investigator-initiated research grants should employ rigorous implementation science methods within diverse settings and populations.

Possible barriers for genetic counselors returning actionable genetic research results across state lines

Possible barriers for genetic counselors returning actionable genetic research results across state lines