Newborn Sequencing in Genomic Medicine and Public Health

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening

Precision Health Research Biobanking with Professional Athletes in the US: A qualitative study using Dissemination and Implementation Science

Background: Moving from studying diseases to states of optimal health brings new logistical, ethical, legal, and social implications for Precision Health research. The Wu Tsai Human Performance Alliance seeks to study elite performers in precise detail to understand both human performance and translate these findings to the public on a global scale. To achieve their goals, the Alliance is implementing a biobank, which collects, stores, and shares biological samples and health information for future, unspecified research. To inform the design, conduct, and implementation of their Precision Health research and biobank, this study sought to explore the contextual factors of professional sports in the US that may impact successful research implementation. Potential adaptations to improve the acceptability and, by extension, the generalizability of this research were also identified. Methods: Dissemination and Implementation Science (DIS) was adapted from implementing evidence-based interventions for the implementation of Precision Health research interventions. This exploratory study conducted one-hour, semi-structured, key informant interviews of professional athletes (n= 20) and their non-athlete stakeholders (n= 22) using an adapted version of the Practical, Robust, Implementation and Sustainability Model (PRISM). A hybrid qualitative method was used to simultaneously apply deductive structured codes from PRISM and inductive codes based on grounded theory. Results: Overall, participants reported interest in the Alliance’s research, but willingness to participate or to encourage athletes to participate was usually conditional. Major themes were vulnerabilities (athletes’ characteristics and risks for discrimination), the impact of the research (potential for negative impacts on sports industry and widening health disparities), desires for direct benefit (e.g., individual results or profit-sharing), and decision-making (desires to control usage of samples and data). Several adaptations to traditional research practices, such as data embargoes and dynamic consent, were identified as likely to increase the perceived acceptability of the research and by examining DIS outcomes were theorized to improve the generalizability of the research. Discussion: This study provided evidence for the utility of supplementing ethical, legal, and social implications (ELSI) research with DIS methods for planning early-stage research intervention implementation. This study described the logistical, ethical, legal, and social implications of human performance research (HPR) and biobanking for aspiring and professional athletes, while identifying key decision points and potential impacts on implementation outcomes. This study allows researchers to make data-driven decisions to adapt traditional research practices to make the research more acceptable and accessible to future participants with the ultimate goal improve the study’s ability to recruit a representative sample

A citation analysis and scoping systematic review of the operationalization of the Practical, Robust Implementation and Sustainability Model (PRISM)

BackgroundThe Practical, Robust Implementation and Sustainability Model (PRISM) was developed in 2008 as a contextually expanded version of the broadly used Reach, Adoption, Effectiveness, Implementation, and Maintenance (RE-AIM) framework. PRISM provides researchers a pragmatic and intuitive model to improve translation of research interventions into clinical and community practice. Since 2008, the use of PRISM increased across diverse topics, populations, and settings. This citation analysis and scoping systematic review aimed to assess the use of the PRISM framework and to make recommendations for future research.MethodsA literature search was conducted using three databases (PubMed, Web of Science, Scopus) for the period of 2008 and September 2020. After exclusion, reverse citation searches and invitations to experts in the field were used to identify and obtain recommendations for additional articles not identified in the original search. Studies that integrated PRISM into their study design were selected for full abstraction. Unique research studies were abstracted for information on study characteristics (e.g., setting/population, design), PRISM contextual domains, and RE-AIM outcomes.ResultsA total of 180 articles were identified to include PRISM to some degree. Thirty-two articles representing 23 unique studies integrated PRISM within their study design. Study characteristics varied widely and included studies conducted in diverse contexts, but predominately in high-income countries and in clinical out-patient settings. With regards to use, 19 used PRISM for evaluation, 10 for planning/development, 10 for implementation, four for sustainment, and one for dissemination. There was substantial variation across studies in how and to what degree PRISM contextual domains and RE-AIM outcomes were operationalized and connected. Only two studies directly connected individual PRISM context domains with RE-AIM outcomes, and another four included RE-AIM outcomes without direct connection to PRISM domains.ConclusionsThis is the first systematic review of the use of PRISM in various contexts. While there were low levels of 'integrated' use of PRISM and few reports on linkage to RE-AIM outcomes, most studies included important context domains of implementation and sustainability infrastructure and external environment. Recommendations are provided for more consistent and comprehensive use of and reporting on PRISM to inform both research and practice on contextual factors in implementation

A systematic literature review of Native American and Pacific Islanders' perspectives on health data privacy in the United States.

BackgroundPrivacy-related concerns can prevent equitable participation in health research by US Indigenous communities. However, studies focused on these communities' views regarding health data privacy, including systematic reviews, are lacking.MethodsWe conducted a systematic literature review analyzing empirical, US-based studies involving American Indian/Alaska Native (AI/AN) and Native Hawaiian or other Pacific Islander (NHPI) perspectives on health data privacy, which we define as the practice of maintaining the security and confidentiality of an individual's personal health records and/or biological samples (including data derived from biological specimens, such as personal genetic information), as well as the secure and approved use of those data.ResultsTwenty-one studies involving 3234 AI/AN and NHPI participants were eligible for review. The results of this review suggest that concerns about the privacy of health data are both prevalent and complex in AI/AN and NHPI communities. Many respondents raised concerns about the potential for misuse of their health data, including discrimination or stigma, confidentiality breaches, and undesirable or unknown uses of biological specimens.ConclusionsParticipants cited a variety of individual and community-level concerns about the privacy of their health data, and indicated that these deter their willingness to participate in health research. Future investigations should explore in more depth which health data privacy concerns are most salient to specific AI/AN and NHPI communities, and identify the practices that will make the collection and use of health data more trustworthy and transparent for participants

A systematic review of dissemination and implementation science capacity building programs around the globe

Abstract Background Research centers and programs focused on dissemination and implementation science (DIS) training, mentorship, and capacity building have proliferated in recent years. There has yet to be a comprehensive inventory of DIS capacity building program (CBP) cataloging information about activities, infrastructure, and priorities as well as opportunities for shared resources, collaboration, and growth. The purpose of this systematic review is to provide the first inventory of DIS CBPs and describe their key features and offerings. Methods We defined DIS CBPs as organizations or groups with an explicit focus on building practical knowledge and skills to conduct DIS for health promotion. CBPs were included if they had at least one capacity building activity other than educational coursework or training alone. A multi-method strategy was used to identify DIS CBPs. Data about the characteristics of DIS CBPs were abstracted from each program’s website. In addition, a survey instrument was developed and fielded to gather in-depth information about the structure, activities, and resources of each CBP. Results In total, 165 DIS CBPs met our inclusion criteria and were included in the final CBP inventory. Of these, 68% are affiliated with a United States (US) institution and 32% are internationally based. There was one CBP identified in a low- and middle-income country (LMIC). Of the US-affiliated CBPs, 55% are embedded within a Clinical and Translational Science Award program. Eighty-seven CBPs (53%) responded to a follow-up survey. Of those who completed a survey, the majority used multiple DIS capacity building activities with the most popular being Training and Education (n=69, 79%) followed by Mentorship (n=58, 67%), provision of DIS Resources and Tools (n=57, 66%), Consultation (n=58, 67%), Professional Networking (n=54, 62%), Technical Assistance (n=46, 52%), and Grant Development Support (n=45, 52%). Conclusions To our knowledge, this is the first study to catalog DIS programs and synthesize learnings into a set of priorities and sustainment strategies to support DIS capacity building efforts. There is a need for formal certification, accessible options for learners in LMICs, opportunities for practitioners, and opportunities for mid/later stage researchers. Similarly, harmonized measures of reporting and evaluation would facilitate targeted cross-program comparison and collaboration

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,

[This corrects the article DOI: 10.1038/npjgenmed.2015.7.]

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,

An important component of precision medicine-the use of whole-genome sequencing (WGS) to guide lifelong healthcare-is electronic decision support to inform drug choice and dosing. To achieve this, automated identification of genetic variation in genes involved in drug absorption, distribution, metabolism, excretion and response (ADMER) is required