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Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (â¼2-10% per condition) for 1 or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes. All 10 eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders-participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources. This paper summarizes eMERGE's collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided.
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Registros Electrónicos de Salud , Etnicidad , Adulto , Humanos , Niño , Grupos Minoritarios , Factores de Riesgo , GenómicaRESUMEN
BACKGROUND: Systematically assessing disease risk can improve population health by identifying those eligible for enhanced prevention/screening strategies. This study aims to determine the clinical impact of a systematic risk assessment in diverse primary care populations. METHODS: Hybrid implementation-effectiveness trial of a family health history-based health risk assessment (HRA) tied to risk-based guideline recommendations enrolling from 2014-2017 with 12 months of post-intervention survey data and 24 months of electronic medical record (EMR) data capture. SETTING: 19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. PARTICIPANTS: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. METHODS: A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter. OUTCOMES: provider and patient discussion and provider uptake (i.e. ordering) and patient uptake (i.e. recommendation completion) of CDS recommendations. MEASURES: patient and provider surveys and EMR data. RESULTS: One thousand eight hundred twenty nine participants (mean age 56.2 [SD13.9], 69.6% female) completed the HRA and had EMR data available for analysis. 762 (41.6%) received a recommendation (29.7% for genetic counseling (GC); 15.2% for enhanced breast/colon cancer screening). Those with recommendations frequently discussed disease risk with their provider (8.7%-38.2% varied by recommendation, p-values ≤ 0.004). In the GC subgroup, provider discussions increased referrals to counseling (44.4% with vs. 5.9% without, P < 0.001). Recommendation uptake was highest for colon cancer screening (provider = 67.9%; patient = 86.8%) and lowest for breast cancer chemoprevention (0%). CONCLUSIONS: Systematic health risk assessment revealed that almost half the population were at increased disease risk based on guidelines. Risk identification resulted in shared discussions between participants and providers but variable clinical action uptake depending upon the recommendation. Understanding the barriers and facilitators to uptake by both patients and providers will be essential for optimizing HRA tools and achieving their promise of improving population health. TRIAL REGISTRATION: Clinicaltrials.gov number NCT01956773 , registered 10/8/2013.
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Atención a la Salud , Asesoramiento Genético , Humanos , Femenino , Persona de Mediana Edad , Masculino , Anamnesis , Medición de RiesgoRESUMEN
OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.
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Informática Médica , Registros Electrónicos de Salud , Genoma Humano , Genómica , Humanos , Proyectos de InvestigaciónRESUMEN
The complexity of genomic medicine can be streamlined by implementing some form of clinical decision support (CDS) to guide clinicians in how to use and interpret personalized data; however, it is not yet clear which strategies are best suited for this purpose. In this study, we used implementation science to identify common strategies for applying provider-based CDS interventions across six genomic medicine clinical research projects funded by an NIH consortium. Each project's strategies were elicited via a structured survey derived from a typology of implementation strategies, the Expert Recommendations for Implementing Change (ERIC), and follow-up interviews guided by both implementation strategy reporting criteria and a planning framework, RE-AIM, to obtain more detail about implementation strategies and desired outcomes. We found that, on average, the three pharmacogenomics implementation projects used more strategies than the disease-focused projects. Overall, projects had four implementation strategies in common; however, operationalization of each differed in accordance with each study's implementation outcomes. These four common strategies may be important for precision medicine program implementation, and pharmacogenomics may require more integration into clinical care. Understanding how and why these strategies were successfully employed could be useful for others implementing genomic or precision medicine programs in different contexts.
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PURPOSE: A critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions. METHODS: The Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) was formed in 2018 to measure the clinical utility and cost-effectiveness of genomic medicine interventions, to assess approaches for real-world application of genomic medicine in diverse clinical settings, and to produce generalizable knowledge on clinical trials using genomic interventions. Five clinical sites and a coordinating center evaluated trial proposals and developed working groups to enable their implementation. RESULTS: Two pragmatic clinical trials (PCTs) have been initiated, one evaluating genetic risk APOL1 variants in African Americans in the management of their hypertension, and the other to evaluate the use of pharmacogenetic testing for medications to manage acute and chronic pain as well as depression. CONCLUSION: IGNITE PTN is a network that carries out PCTs in genomic medicine; it is focused on diversity and inclusion of underrepresented minority trial participants; it uses electronic health records and clinical decision support to deliver the interventions. IGNITE PTN will develop the evidence to support (or oppose) the adoption of genomic medicine interventions by patients, providers, and payers.
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Sistemas de Apoyo a Decisiones Clínicas , Genómica , Apolipoproteína L1 , Registros Electrónicos de Salud , Humanos , Pruebas de Farmacogenómica , Medicina de PrecisiónRESUMEN
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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BACKGROUND: Colorectal cancer is the fourth most commonly diagnosed cancer in the United States. Approximately 3-10% of the population has an increased risk for colorectal cancer due to family history and warrants more frequent or intensive screening. Yet, < 50% of that high-risk population receives guideline-concordant care. Systematic collection of family health history and decision support may improve guideline-concordant screening for patients at increased risk of colorectal cancer. We seek to test the effectiveness of a web-based, systematic family health history collection tool and decision support platform (MeTree) to improve risk assessment and appropriate management of colorectal cancer risk among patients in the Department of Veterans Affairs primary care practices. METHODS: In this ongoing randomized controlled trial, primary care providers at the Durham Veterans Affairs Health Care System and the Madison VA Medical Center are randomized to immediate intervention or wait-list control. Veterans are eligible if assigned to enrolled providers, have an upcoming primary care appointment, and have no conditions that would place them at increased risk for colorectal cancer (such as personal history, adenomatous polyps, or inflammatory bowel disease). Those with a recent lower endoscopy (e.g. colonoscopy, sigmoidoscopy) are excluded. Immediate intervention patients put their family health history information into a web-based platform, MeTree, which provides both patient- and provider-facing decision support reports. Wait-list control patients access MeTree 12 months post-consent. The primary outcome is the risk-concordant colorectal cancer screening referral rate obtained via chart review. Secondary outcomes include patient completion of risk management recommendations (e.g. colonoscopy) and referral for genetic consultation. We will also conduct an economic analysis and an assessment of providers' experience with MeTree clinical decision support recommendations to inform future implementation efforts if the intervention is found to be effective. DISCUSSION: This trial will assess the feasibility and effectiveness of patient-collected family health history linked to decision support to promote risk-appropriate screening in a large healthcare system such as the Department of Veterans Affairs. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02247336 . Registered on 25 September 2014.
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Neoplasias Colorrectales/diagnóstico , Técnicas de Apoyo para la Decisión , Detección Precoz del Cáncer/métodos , Registros Electrónicos de Salud , Anamnesis , Adulto , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/terapia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Multicéntricos como Asunto , Valor Predictivo de las Pruebas , Pronóstico , Ensayos Clínicos Controlados Aleatorios como Asunto , Medición de Riesgo , Factores de Riesgo , Estados Unidos , United States Department of Veterans AffairsRESUMEN
PurposeImplementation research provides a structure for evaluating the clinical integration of genomic medicine interventions. This paper describes the Implementing Genomics in Practice (IGNITE) Network's efforts to promote (i) a broader understanding of genomic medicine implementation research and (ii) the sharing of knowledge generated in the network.MethodsTo facilitate this goal, the IGNITE Network Common Measures Working Group (CMG) members adopted the Consolidated Framework for Implementation Research (CFIR) to guide its approach to identifying constructs and measures relevant to evaluating genomic medicine as a whole, standardizing data collection across projects, and combining data in a centralized resource for cross-network analyses.ResultsCMG identified 10 high-priority CFIR constructs as important for genomic medicine. Of those, eight did not have standardized measurement instruments. Therefore, we developed four survey tools to address this gap. In addition, we identified seven high-priority constructs related to patients, families, and communities that did not map to CFIR constructs. Both sets of constructs were combined to create a draft genomic medicine implementation model.ConclusionWe developed processes to identify constructs deemed valuable for genomic medicine implementation and codified them in a model. These resources are freely available to facilitate knowledge generation and sharing across the field.
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Atención a la Salud/métodos , Medicina de Precisión/métodos , Femenino , Genómica , Humanos , Masculino , Medicina de Precisión/normas , Encuestas y CuestionariosRESUMEN
OBJECTIVE: Prior reports demonstrate that personalized medicine implementation in clinical care is lacking. Given the program focus at Duke University on personalized medicine, we assessed health care providers' perspectives on their preparation and educational needs to effectively integrate personalized medicine tools and applications into their clinical practices. METHODS: Data from 78 health care providers who participated in a larger study of personalized and precision medicine at Duke University were analyzed using Qualtrics (descriptive statistics). Individuals age 18 years and older were recruited for the larger study through broad email contacts across the university and health system. All participants completed an online 35-question survey that was developed, pilot-tested, and administered by a team of interdisciplinary researchers and clinicians at the Center for Applied Genomics and Precision Medicine. RESULTS: Overall, providers reported being ill-equipped to implement personalized medicine in clinical practice. Many respondents identified educational resources as critical for strengthening personalized medicine implementation in both research and clinical practice. Responses did not differ significantly between specialists and primary providers or by years since completion of the medical degree. CONCLUSIONS: Survey findings support prior calls for provider and patient education in personalized medicine. Respondents identified focus areas in training, education, and research for improving personalized medicine uptake. Given respondents' emphasis on educational needs, now may be an ideal time to address these needs in clinical training and public education programs.
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UNLABELLED: In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. METHODS: We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers' use of genetic and genomic testing options and indications in clinical practice, providers' awareness of pharmacogenetic applications, and providers' opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.
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The Institute for Pharmacogenomics and Individualized Therapy (IPIT) at the University of North Carolina at Chapel Hill (NC, USA) is a collaborative, multidisciplinary unit that brings together faculty from different disciplines and crosses the traditional departmental/school structure to perform pharmacogenomics research. IPIT investigators work together towards the goal of developing therapies to enable the delivery of individualized medical care. The NIH-supported Comprehensive Research on Expressed Alleles in Therapeutic Evaluation (CREATE) group leads the field in the evaluation of pathways regulating drug activity, and also provides a foundation for future IPIT research. IPIT members perform bench research, clinical cohort analysis and prospective clinical intervention studies, research on the integration of pharmacogenomic therapy into practice and research to foster global health pharmacogenomics application through the Pharmacogenetics for Every Nation Initiative. IPIT Investigators are actively incorporating a pharmacogenomics curriculum into existing teaching programs at all levels.
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Academias e Institutos , Farmacogenética , Medicina de Precisión , Investigación Biomédica , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Femenino , Genotipo , Humanos , Biología Molecular , North Carolina , Farmacogenética/educación , ARN Interferente Pequeño , Ensayos Clínicos Controlados Aleatorios como Asunto , Tamoxifeno/uso terapéutico , Warfarina/uso terapéuticoRESUMEN
INTRODUCTION: The goals of this study were to determine U.S. states with Comprehensive Cancer Control plans that include genomics in some capacity and to review successes with and barriers to implementation of genomics-related cancer control initiatives. METHODS: This study was conducted in two phases. Phase one included a content analysis of written state Comprehensive Cancer Control plans (n = 30) for terms related to genomics, or "genomic components" (n = 18). The second phase involved telephone interviews with the Comprehensive Cancer Control plan coordinators in states with plans that contained genomic components (n = 16). The interview was designed to gather more detailed information about the genomics-related initiatives within the state's Comprehensive Cancer Control plan and the successes with and barriers to plan implementation, as defined by each state. RESULTS: Eighteen of the 30 Comprehensive Cancer Control plans analyzed contained genomics components. We noted a large variability among these 18 plans in the types of genomics components included. Nine (56%) of the 16 states interviewed had begun to implement the genomics components in their plan. Most states emphasized educating health care providers and the public about the role of genomics in cancer control. Many states consider awareness of family history to be an important aspect of their Comprehensive Cancer Control plan. Approximately 67% of states with family history components in their plans had begun to implement these goals. Virtually all states reported they would benefit from additional training in cancer genetics and general public health genomics. CONCLUSION: The number of states incorporating genomics into their Comprehensive Cancer Control plans is increasing. Family history is a public health application of genomics that could be implemented more fully into Comprehensive Cancer Control plans.
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Genómica , Neoplasias/prevención & control , Salud Pública , Genómica/educación , Educación en Salud , Promoción de la Salud , Humanos , Neoplasias/genética , Desarrollo de Programa , Salud Pública/educación , Estados UnidosRESUMEN
In order to examine the extent to which current public health practices incorporate information about genetic susceptibilities potentially obtained by a comprehensive family history, public health nurses in North Carolina were surveyed to assess the extent to which this information is routinely collected. In addition, we measured nurses' awareness of the Centers for Disease Control and Prevention's Genomic Competencies and assessed training needs related to genomics. A self-administered survey was distributed to all public health nurse supervisors, directors, consultants as well as Breast and Cervical Cancer Coordination Program managers in North Carolina. A 68.4% response rate (292/427) was obtained. The majority (88.7%) of nurses with regular patient contact report routine gathering of family history data for adult chronic diseases. Some key family history data components are routinely collected including the total number of affected relatives (76%), ethnicity information (57.5%), and age of chronic disease onset (31.8%). A minority of nurses (9%) reported awareness of the Genomic Competencies, and most (72.1%) acknowledged their need for training in order to achieve these competencies. Information collected by taking a family history can indicate a combination of genetic and environmental susceptibilities for chronic diseases.
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Genómica/educación , Genómica/normas , Anamnesis/normas , Enfermería en Salud Pública/educación , Centers for Disease Control and Prevention, U.S./normas , Salud de la Familia , Predisposición Genética a la Enfermedad , Humanos , Evaluación de Necesidades , North Carolina , Guías de Práctica Clínica como Asunto/normas , Estados UnidosRESUMEN
Physicians and health professionals are faced with new challenges in the era of increasing information on genetics and health. The sequencing of the human genome has created more opportunities for genetic research and increased awareness of the role of genes in diseases. There is also an increased awareness of genetic susceptibility and gene testing. As a result of the advances in genetic research, the public demand for gene testing is on the rise. Patients are now seeking more information about inheritable diseases and predisposition to genetically related disease from doctors and other health professionals. Genetic tests are often conducted to confirm the diagnosis of a genetic disease as well as to assess genetic risk, predict response to drugs, and assist in reproductive decision making. Genetic tests are available for over 950 inherited diseases or conditions in the GeneTests data base for clinical or research purposes. A number of challenges face health professionals when using genetic tests for diagnosis, predictive testing, or reproductive decision making. These include the constant change in genetics knowledge and the increased demand to keep up with the various aspects of the genetic testing process. To meet these demands, physicians and other health professionals should use available educational genetic resources to provide adequate patient care.