The EGAPP initiative: lessons learned

Calonge, Ned; Klein, Roger D.; Berg, Alfred O.; Berg, Jonathan S.; Armstrong, Katrina; Botkin, Jeffrey R.; Campos‐Outcalt, Doug; Djulbegoviĉ, Benjamin; Fisher, Nancy L.; Ganiats, Théodore G.; Haddow, James E.; Hayes, Maxine; Janssens, A. Cecile J.W.; Kaye, Celia I.; Lyman, Donald O.; Offit, Kenneth; Pauker, Stephen G.; Phillips, Kathryn A.; Piper, Margaret; Richards, C. Sue; Scott, Joan A.; Strickland, Ora L.; Teutsch, Steven M.; Tunis, Sean; Veenstra, David L.; Williams, Marc S.; Zallen, Doris T.

doi:10.1038/gim.2013.110

Cited by 44 publications

(11 citation statements)

References 14 publications

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“…The claim that genomics will revolutionize the practice of medicine has been the subject of hope and hype, promise and skepticism [1–3]. Routine testing for genetic conditions such as phenylketonuria has been a part of clinical care since the 1960s, and today many general practitioners have at least some experience with targeted genetic testing for conditions such as cystic fibrosis, hemochromatosis and factor V Leiden thrombophilia [4–6].…”

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confidence: 99%

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

et al. 2015

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Aim To describe practicing physicians’ perceived clinical utility of genome sequencing. Materials & methods We conducted a mixed-methods analysis of data from 18 primary care physicians and cardiologists in a study of the clinical integration of whole-genome sequencing. Physicians underwent brief genomics continuing medical education before completing surveys and semi-structured interviews. Results Physicians described sequencing as currently lacking clinical utility because of its uncertain interpretation and limited impact on clinical decision-making, but they expressed the idea that its clinical integration was inevitable. Potential clinical uses for sequencing included complementing other clinical information, risk stratification, motivating patient behavior change and pharmacogenetics. Conclusion Physicians given genomics continuing medical education use the language of both evidence-based and personalized medicine in describing the utility of genome-wide testing in patient care.

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mentioning

confidence: 99%

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

et al. 2015

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“…It builds on previous frameworks, including the United States Preventive Services Task Force approach for assessing preventive interventions (21); the Fryback–Thornbury hierarchy (22); the ACCE (Analytic Validity, Clinical Validity, Clinical Utility, and Ethical, Legal, and Social Implications) framework (23); the EGAPP (Evaluation of Genomic Applications in Practice and Prevention) standards (24); the Genetic testing Evidence Tracking Tool (GETT) (25); and the Frueh and Quin framework that aims to facilitate communication between test developers and health-technology evaluators (26). …”

Section: What Framework Should Guide Decision Making On the Use Of Bimentioning

confidence: 99%

Evidence-based medicine and big genomic data

Ioannidis

Khoury

2018

Human Molecular Genetics

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Genomic and other related big data (Big Genomic Data, BGD for short) are ushering a new era of precision medicine. This overview discusses whether principles of evidence-based medicine hold true for BGD and how they should be operationalized in the current era. Major evidence-based medicine principles include the systematic identification, description and analysis of the validity and utility of BGD, the combination of individual clinical expertise with individual patient needs and preferences, and the focus on obtaining experimental evidence, whenever possible. BGD emphasize information of single patients with an overemphasis on N-of-1 trials to personalize treatment. However, large-scale comparative population data remain indispensable for meaningful translation of BGD personalized information. The impact of BGD on population health depends on its ability to affect large segments of the population. While several frameworks have been proposed to facilitate and standardize decision making for use of genomic tests, there are new caveats that arise from BGD that extend beyond the limitations that were applicable for more simple genetic tests. Non-evidence-based use of BGD may be harmful and result in major waste of healthcare resources. Randomized controlled trials will continue to be the strongest arbitrator for the clinical utility of genomic technologies, including BGD. Research on BGD needs to focus not only on finding robust predictive associations (clinical validity) but also more importantly on evaluating the balance of health benefits and potential harms (clinical utility), as well as implementation challenges. Appropriate features of such useful research on BGD are discussed.

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“…En ce qui concerne l'utilité clinique de la médecine génomique, les chercheurs et cliniciens sont de plus en plus conscients que les bénéfices attendus pour les patients ne devraient pas simplement être mesurés sous l'angle de la réduction de la morbidité et de la mortalité générales, mais aussi en termes d'amélioration du bien-être individuel [1,2]. L'évaluation de l'utilité clinique des tests génomiques inclut donc une appréciation de l'«utilité personnelle», pour le patient, de l'information génomique dans son suivi médi-cal [5,14,16]. En effet, surtout dans le cas de maladies multifactorielles, l'information concernant un risque génétique ne conduit pas forcément le patient à chan-ger ses habitudes et à améliorer son hygiène de vie [17].…”

Section: Validité Et Utilité D'une Médecine Génomiqueunclassified

Enjeux éthiques et sociaux de la médecine génomique

Barazzetti¹,

Kaufmann²,

Benaroyo³

2014

Praxis

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Die medizinische Genomik wird oft als neues Paradigma dargestellt, das eine personalisierte Therapie des Patienten erlaubt. Sie umfasst gleichzeitig eine Forschungsart und eine Zukunftsvision der Medizin und könnte einen gewaltigen Einfluss auf Diagnose, Therapie und Prävention haben. Dieser Artikel beleuchtet wichtige ethische und soziale Fragen, die durch die Genom-basierte Medizin aufgeworfen werden: Die Auswirkungen auf unser Verständnis der Krankheiten, die Frage der Gültigkeit und des klinischen Nutzens der Analyse des Genoms, die Kontrolle der genetischen Information von den Betreuenden und ihre Kommunikation zum Patienten sowie die Frage der Kosten für das Gesundheitssystems.

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The EGAPP initiative: lessons learned

Cited by 44 publications

References 14 publications

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

‘Someday it will be the Norm’: Physician Perspectives on the Utility of Genome Sequencing for Patient Care in the Medseqproject

Evidence-based medicine and big genomic data

Enjeux éthiques et sociaux de la médecine génomique

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