Pharmacogenomics

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Marc S Williams - One of the best experts on this subject based on the ideXlab platform.

  • healthcare provider education to support integration of Pharmacogenomics in practice the emerge network experience
    Pharmacogenomics, 2017
    Co-Authors: Carolyn Rohrer R Vitek, Noura S Abulhusn, Terrie Kitchner, Sarah C Stallings, Maureen E. Smith, Josh F Peterson, John J Connolly, Andrea L Hartzler, Luke V. Rasmussen, Marc S Williams
    Abstract:

    Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing and clinical decision support into clinical settings. Recognizing the importance of informed prescribers, a variety of strategies were used to incorporate provider education to support implementation. Education experiences with Pharmacogenomics are described within the context of each organization's prior involvement, including the scope and scale of implementation specific to their Electronic Medical Records and Genomics projects. We describe common and distinct education strategies, provide exemplars and share challenges. Lessons learned inform future perspectives. Future Pharmacogenomics clinical implementation initiatives need to include funding toward implementing provider education and evaluating outcomes.

  • developing knowledge resources to support precision medicine principles from the clinical pharmacogenetics implementation consortium cpic
    Journal of the American Medical Informatics Association, 2016
    Co-Authors: James M Hoffman, Teri E Klein, Marc S Williams, Henry M Dunnenberger, Kevin J Hicks, Kelly E Caudle, Michelle Whirl Carrillo, Robert R Freimuth, Josh F Peterson
    Abstract:

    To move beyond a select few genes/drugs, the successful adoption of Pharmacogenomics into routine clinical care requires a curated and machine-readable database of pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with clinical decision support (CDS). Recognizing that EHR vendors do not yet provide a standard set of CDS functions for pharmacogenetics, the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing and systematically incorporating a set of EHR-agnostic implementation resources into all CPIC guidelines. These resources illustrate how to integrate pharmacogenomic test results in clinical information systems with CDS to facilitate the use of patient genomic data at the point of care. Based on our collective experience creating existing CPIC resources and implementing Pharmacogenomics at our practice sites, we outline principles to define the key features of future knowledge bases and discuss the importance of these knowledge resources for Pharmacogenomics and ultimately precision medicine.

  • economic evaluation of Pharmacogenomics a value based approach to pragmatic decision making in the face of complexity
    Public Health Genomics, 2014
    Co-Authors: Susan R Snyder, Christina Mitropoulou, George P Patrinos, Marc S Williams
    Abstract:

    Evidence of the value of pharmacogenomic testing is needed to inform policymakers and clinicians for decision making related to adoption and coverage, and to facilitate prioritization for research and development. Pharmacogenomics has an important role in creating a more efficient healthcare system, and this article addresses how economic evaluation can strategically target evidence gaps for public health priorities with examples from pharmacogenomic medicine. This article begins with a review of the need for and use of economic evaluations in value-based decision making for pharmacogenomic testing. Three important gaps are described with examples demonstrating how they can be addressed: (1) projected impact of hypothetical new technology, (2) pre-implementation assessment of a specific technology, and (3) post-implementation assessment from relevant analytical stakeholder perspectives. Additional needs, challenges and approaches specific to pharmacogenomic economic evaluation in the developing world are also identified. These pragmatic approaches can provide much needed evidence to support real-world value-based decision making for pharmacogenomic-based screening and treatment strategies.

Teri E Klein - One of the best experts on this subject based on the ideXlab platform.

  • developing knowledge resources to support precision medicine principles from the clinical pharmacogenetics implementation consortium cpic
    Journal of the American Medical Informatics Association, 2016
    Co-Authors: James M Hoffman, Teri E Klein, Marc S Williams, Henry M Dunnenberger, Kevin J Hicks, Kelly E Caudle, Michelle Whirl Carrillo, Robert R Freimuth, Josh F Peterson
    Abstract:

    To move beyond a select few genes/drugs, the successful adoption of Pharmacogenomics into routine clinical care requires a curated and machine-readable database of pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with clinical decision support (CDS). Recognizing that EHR vendors do not yet provide a standard set of CDS functions for pharmacogenetics, the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing and systematically incorporating a set of EHR-agnostic implementation resources into all CPIC guidelines. These resources illustrate how to integrate pharmacogenomic test results in clinical information systems with CDS to facilitate the use of patient genomic data at the point of care. Based on our collective experience creating existing CPIC resources and implementing Pharmacogenomics at our practice sites, we outline principles to define the key features of future knowledge bases and discuss the importance of these knowledge resources for Pharmacogenomics and ultimately precision medicine.

  • from pharmacogenomic knowledge acquisition to clinical applications the pharmgkb as a clinical pharmacogenomic biomarker resource
    Biomarkers in Medicine, 2011
    Co-Authors: Ellen M Mcdonagh, Russ B. Altman, Yael Garten, Michelle Whirlcarrillo, Teri E Klein
    Abstract:

    The mission of the Pharmacogenomics Knowledge Base (PharmGKB; www.pharmgkb.org) is to collect, encode and disseminate knowledge about the impact of human genetic variations on drug responses. It is an important worldwide resource of clinical pharmacogenomic biomarkers available to all. The PharmGKB website has evolved to highlight our knowledge curation and aggregation over our previous emphasis on collecting primary data. This review summarizes the methods we use to drive this expanded scope of ‘Knowledge Acquisition to Clinical Applications’, the new features available on our website and our future goals.

  • cpic clinical pharmacogenetics implementation consortium of the Pharmacogenomics research network
    Clinical Pharmacology & Therapeutics, 2011
    Co-Authors: Mary V Relling, Teri E Klein
    Abstract:

    The slow rate at which pharmacogenetic tests are being adopted in clinical practice is partly due to the lack of specific guidelines on how to adjust medications on the basis of the genetic test results. One of the goals of the Clinical Pharmacogenetics Implementation Consortium (CPIC) of the National Institutes of Health’s Pharmacogenomics Research Network (http://www.pgrn.org) and the Pharmacogenomics Knowledge Base (PharmGKB, http://www.pharmgkb.org) is to provide peer-reviewed, updated, evidence-based, freely accessible guidelines for gene/drug pairs. These guidelines will facilitate the translation of pharmacogenomic knowledge from bench to bedside.

Mark Eijgelsheim - One of the best experts on this subject based on the ideXlab platform.

  • Drug–gene interactions and the search for missing heritability: a cross-sectional Pharmacogenomics study of the QT interval
    The Pharmacogenomics Journal, 2014
    Co-Authors: Christy L. Avery, Colleen M. Sitlani, Dan E. Arking, Donna K. Arnett, Joshua C. Bis, Eric Boerwinkle, Brendan M. Buckley, A.j.m. De Craen, Y-d Ida Chen, Mark Eijgelsheim
    Abstract:

    Variability in response to drug use is common and heritable, suggesting that genome-wide Pharmacogenomics studies may help explain the ‘missing heritability’ of complex traits. Here, we describe four independent analyses in 33 781 participants of European ancestry from 10 cohorts that were designed to identify genetic variants modifying the effects of drugs on QT interval duration (QT). Each analysis cross-sectionally examined four therapeutic classes: thiazide diuretics (prevalence of use=13.0%), tri/tetracyclic antidepressants (2.6%), sulfonylurea hypoglycemic agents (2.9%) and QT-prolonging drugs as classified by the University of Arizona Center for Education and Research on Therapeutics (4.4%). Drug–gene interactions were estimated using covariable-adjusted linear regression and results were combined with fixed-effects meta-analysis. Although drug–single-nucleotide polymorphism (SNP) interactions were biologically plausible and variables were well-measured, findings from the four cross-sectional meta-analyses were null ( P _interaction>5.0 × 10^−8). Simulations suggested that additional efforts, including longitudinal modeling to increase statistical power, are likely needed to identify potentially important pharmacogenomic effects.

  • Drug-gene interactions and the search for missing heritability: a cross-sectional Pharmacogenomics study of the QT interval.
    The pharmacogenomics journal, 2013
    Co-Authors: Christy L. Avery, Colleen M. Sitlani, Dan E. Arking, Donna K. Arnett, Joshua C. Bis, Eric Boerwinkle, Brendan M. Buckley, Y.-d. Ida Chen, A.j.m. De Craen, Mark Eijgelsheim
    Abstract:

    Variability in response to drug use is common and heritable, suggesting that genome-wide Pharmacogenomics studies may help explain the 'missing heritability' of complex traits. Here, we describe four independent analyses in 33 781 participants of European ancestry from 10 cohorts that were designed to identify genetic variants modifying the effects of drugs on QT interval duration (QT). Each analysis cross-sectionally examined four therapeutic classes: thiazide diuretics (prevalence of use=13.0%), tri/tetracyclic antidepressants (2.6%), sulfonylurea hypoglycemic agents (2.9%) and QT-prolonging drugs as classified by the University of Arizona Center for Education and Research on Therapeutics (4.4%). Drug-gene interactions were estimated using covariable-adjusted linear regression and results were combined with fixed-effects meta-analysis. Although drug-single-nucleotide polymorphism (SNP) interactions were biologically plausible and variables were well-measured, findings from the four cross-sectional meta-analyses were null (Pinteraction>5.0 × 10(-8)). Simulations suggested that additional efforts, including longitudinal modeling to increase statistical power, are likely needed to identify potentially important pharmacogenomic effects.

George P Patrinos - One of the best experts on this subject based on the ideXlab platform.

  • Adoption of Pharmacogenomic Testing: A Marketing Perspective
    'Frontiers Media SA', 2021
    Co-Authors: Margarita-ioanna Koufaki, George P Patrinos, Kariofyllis Karamperis, Polixeni Vitsa, Konstantinos Vasileiou, Christina Mitropoulou
    Abstract:

    Pharmacogenomics is becoming an important part of clinical practice and it is considered one of the basic pillars of personalised medicine. However, the rate of Pharmacogenomics adoption is still low in many healthcare systems, especially in low- or middle-income countries. The low level of awareness of healthcare specialists could be a potential reason due to which Pharmacogenomics application is still in a premature stage but there are several other barriers that impede the aforementioned process, including the lack of the proper promotion of pharmacogenomic testing among interested stakeholders, such as healthcare professionals and biomedical scientists. In this study, we outline the available marketing theories and innovation that are applied to personalized medicine interventions that would catalyze the adoption of pharmacogenomic testing services in clinical practice. We also present the current ethical and legal framework about genomic data and propose ways to tackle the main concerns mentioned in the literature and to improve the marketing perspective of PGx

  • medical education in Pharmacogenomics results from a survey on pharmacogenetic knowledge in healthcare professionals within the european Pharmacogenomics clinical implementation project ubiquitous Pharmacogenomics u pgx
    European Journal of Clinical Pharmacology, 2017
    Co-Authors: Katja Susanne Just, Michael Steffens, Jesse J Swen, George P Patrinos, Henkjan Guchelaar, Julia C Stingl
    Abstract:

    Due to the diversity within Europe, the implementation of pharmacogenomic testing in clinical practice faces specific challenges. In the context of the European Pharmacogenomics implementation project “Ubiquitous Pharmacogenomics” (U-PGx; funded by the European Commission), we studied the current educational background. We developed a questionnaire including 29 questions. It was spread out to healthcare professionals working at the future implementation sites (in Austria, Greece, Italy, Netherlands, Slovenia, Spain and Great Britain) of the U-PGx project in preparation of an educational programme. Aim of the survey was to analyse the current educational situation at the implementation sites. In total, 70 healthcare professionals participated in the survey. Of participants, 84.3% found Pharmacogenomics relevant to their current practice, but experience was still rare. More than two-thirds (65.7%) did not order nor recommend a pharmacogenomic test in the past year. This was mainly attributed to not having enough knowledge on Pharmacogenomics (40.0%). Needs were identified in application of Pharmacogenomics (identifying drugs 41.4%, interpreting test results 37.2%) as well as in underlining mechanisms (better knowledge on drug metabolism 67.1%, better knowledge on basic principles of Pharmacogenomics 60.0%). This study analysed the specific attitudes, experience and education on Pharmacogenomics of future users. There was a general positive attitude and interest towards pharmacogenomic testing. However, the grade of own experience, and knowledge about application and interpretation of Pharmacogenomics caused uncertainty. Thus, education and training programmes may be helpful for implementation of Pharmacogenomics at a homogenous level within Europe.

  • economic evaluation of Pharmacogenomics a value based approach to pragmatic decision making in the face of complexity
    Public Health Genomics, 2014
    Co-Authors: Susan R Snyder, Christina Mitropoulou, George P Patrinos, Marc S Williams
    Abstract:

    Evidence of the value of pharmacogenomic testing is needed to inform policymakers and clinicians for decision making related to adoption and coverage, and to facilitate prioritization for research and development. Pharmacogenomics has an important role in creating a more efficient healthcare system, and this article addresses how economic evaluation can strategically target evidence gaps for public health priorities with examples from pharmacogenomic medicine. This article begins with a review of the need for and use of economic evaluations in value-based decision making for pharmacogenomic testing. Three important gaps are described with examples demonstrating how they can be addressed: (1) projected impact of hypothetical new technology, (2) pre-implementation assessment of a specific technology, and (3) post-implementation assessment from relevant analytical stakeholder perspectives. Additional needs, challenges and approaches specific to pharmacogenomic economic evaluation in the developing world are also identified. These pragmatic approaches can provide much needed evidence to support real-world value-based decision making for pharmacogenomic-based screening and treatment strategies.

  • realities and expectations of Pharmacogenomics and personalized medicine impact of translating genetic knowledge into clinical practice
    Pharmacogenomics, 2010
    Co-Authors: Alessio Squassina, Mirko Manchia, Vangelis G Manolopoulos, Mehmet Artac, Christina Lappamanakou, Sophia Karkabouna, Konstantinos Mitropoulos, Maria Del Zompo, George P Patrinos
    Abstract:

    The implementation of genetic data for a better prediction of response to medications and adverse drug reactions is becoming a reality in some clinical fields. However, to be successful, personalized medicine should take advantage of an informational structured framework of genetic, phenotypic and environmental factors in order to provide the healthcare system with useful tools that can optimize the effectiveness of specific treatment. The impact of personalized medicine is potentially enormous, but the results that have so far been gathered are often difficult to translate into clinical practice. In this article we have summarized the most relevant applications of Pharmacogenomics on diseases to which they have already been applied and fields in which they are currently emerging. The article provides an overview of the opportunities and shortcomings of the implementation of genetic information into personalized medicine and its full adoption in the clinic. In the second instance, it provides readers from different fields of expertise with an accessible interpretation to the barriers and opportunities in the use/adoption of pharmacogenomic testing between the different clinical areas.

Josh F Peterson - One of the best experts on this subject based on the ideXlab platform.

  • healthcare provider education to support integration of Pharmacogenomics in practice the emerge network experience
    Pharmacogenomics, 2017
    Co-Authors: Carolyn Rohrer R Vitek, Noura S Abulhusn, Terrie Kitchner, Sarah C Stallings, Maureen E. Smith, Josh F Peterson, John J Connolly, Andrea L Hartzler, Luke V. Rasmussen, Marc S Williams
    Abstract:

    Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing and clinical decision support into clinical settings. Recognizing the importance of informed prescribers, a variety of strategies were used to incorporate provider education to support implementation. Education experiences with Pharmacogenomics are described within the context of each organization's prior involvement, including the scope and scale of implementation specific to their Electronic Medical Records and Genomics projects. We describe common and distinct education strategies, provide exemplars and share challenges. Lessons learned inform future perspectives. Future Pharmacogenomics clinical implementation initiatives need to include funding toward implementing provider education and evaluating outcomes.

  • developing knowledge resources to support precision medicine principles from the clinical pharmacogenetics implementation consortium cpic
    Journal of the American Medical Informatics Association, 2016
    Co-Authors: James M Hoffman, Teri E Klein, Marc S Williams, Henry M Dunnenberger, Kevin J Hicks, Kelly E Caudle, Michelle Whirl Carrillo, Robert R Freimuth, Josh F Peterson
    Abstract:

    To move beyond a select few genes/drugs, the successful adoption of Pharmacogenomics into routine clinical care requires a curated and machine-readable database of pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with clinical decision support (CDS). Recognizing that EHR vendors do not yet provide a standard set of CDS functions for pharmacogenetics, the Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing and systematically incorporating a set of EHR-agnostic implementation resources into all CPIC guidelines. These resources illustrate how to integrate pharmacogenomic test results in clinical information systems with CDS to facilitate the use of patient genomic data at the point of care. Based on our collective experience creating existing CPIC resources and implementing Pharmacogenomics at our practice sites, we outline principles to define the key features of future knowledge bases and discuss the importance of these knowledge resources for Pharmacogenomics and ultimately precision medicine.