Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network
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The Precision Medicine Initiative (PMW) Working Group. The Precision Medicine Initiative Cohort Program — Building a Research Foundation for 21st Century Medicine. September 17 2015. https://acd.od.nih.gov/reports/DRAFT-PMI-WG-Report-9-11-2015-508.pdf . Accessed 16 Feb 2017.
National Academies of Sciences, Engineering, and Medicine. Applying an implementation science approach to genomic medicine: workshop summary. Washington, DC: The National Academies Press; 2016.
Karlitz JJ, Hsieh M-C, Liu Y, Blanton C, Schmidt B, Jessup JM, et al. Population-based lynch syndrome screening by microsatellite instability in patients ≤50: prevalence, testing determinants, and result availability prior to colon surgery. Am J Gastroenterol. 2015;110(7):948–55.
Shahin MHA, Johnson JA. Clopidogrel and warfarin pharmacogenetic tests: what is the evidence for use in clinical practice? Curr Opin Cardiol. 2013;28(3):305–14.
Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, et al. Preemptive clinical pharmacogenetics implementation: current programs in five United States medical centers. Annu Rev Pharmacol Toxicol. 2015;55:89.
Chambers DA, Feero W, Khoury MJ. Convergence of implementation science, precision medicine, and the learning health care system: a new model for biomedical research. JAMA. 2016;315(18):1941–2.
Burke W, Korngiebel DM. Closing the gap between knowledge and clinical application: Challenges for genomic translation. Plos Genetics. 2015;11(2):1–9.
Chambers D, Ginsburg GS. The intersection between precision medicine and implementation science. CDC Public Health Genomics Webinar. 2016. https://www.cdc.gov/genomics/events/webinar_precision_med2.htm. Accessed 16 Feb 2017.
Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013;15(4):258–67.
Feero WG, Manolio TA, Khoury MJ. Translational research is a key to nongeneticist physicians’ genomics education. Genet Med. 2014;16(12):871–3.
Johnson JA, Weitzel KW. Advancing pharmacogenomics as a component of precision medicine: how, where, and who? Clin Pharmacol Ther. 2016;99(2):154–6.
Green R, Dotson W, Bowen S, Kolor K, Khoury M. Genomics in public health: perspective from the office of public health genomics at the centers for disease control and prevention (CDC). Healthcare. 2015;3(3):830.
Weitzel KW, Alexander M, Bernhardt BA, Calman N, Carey DJ, et al. The IGNITE network: a model for genomic medicine implementation and research. BMC Med Genomics. 2016;9(1):1–13.
Fisher ES, Shortell SM, Savitz LA. Implementation science: a potential catalyst for delivery system reform. JAMA. 2016;315(4):339–40.
Damschroder L, Aron D, Keith R, Kirsh S, Alexander J, Lowery J. Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science. Implementation Sci. 2009;4(1):50.
Kirk MA, Kelley C, Yankey N, Birken SA, Abadie B, Damschroder L. A systematic review of the use of the consolidated framework for implementation research. Implementation Sci. 2016;11(1):1–13.
Yin RK. Case study research: design and methods. 5th ed. Washington DC: Sage; 2014.
Waltz T, Powell B, Matthieu M, Damschroder LJ, Chinman MJ, Smith J, et al. Use of concept mapping to characterize relationships among implementation strategies and assess their feasibility and importance: results from the expert recommendations for implementing change (ERIC) study. Implementation Sci. 2015;10(1):109.
Powell B, Waltz T, Chinman M, Damschroder LJ, Smith JL, Matthieu MM, et al. A refined compilation of implementation strategies: results from the expert recommendations for implementing change (ERIC) project. Implementation Sci. 2015;10(1):21.
Horowitz CR, Abul-Husn NS, Ellis S, Ramos MA, Negron R, Suprun M, et al. Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry. Contemp Clin Trials. 2016;47:101–8.
Relling MV, Klein TE. CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin Pharmacol Ther. 2011;89(3):464–7.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24.
Kleinberger J, Maloney KA, Pollin TI, Jeng LJ. An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants. Genet Med. 2016;18(11):1165.
Carpenter JS, Rosenman MB, Knisely MR, Decker BS, Levy KD, Flockhart DA. Pharmacogenomically actionable medications in a safety net health care system. SAGE Open Med. 2016;4:2050312115624333.
Peterson JF, Field JR, Shi Y, et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharmacogenomics J. 2016;16(4):393–8.
McDaniels AK. University of Maryland School of Medicine researchers are studying a rare form of diabetes In: The Baltimore Sun. December 22, 2015\. http://www.baltimoresun.com/health/bs-hs-monogenic-diabetes-20151203-story.html . Accessed 16 Feb 2017.
Horowitz CR FK, Negron R, Sabin T, Rodriguez M, Zinberg RF, Bottinger E, Robinson M. Race, genomics and chronic disease: What patients with African ancestry have to say. J Healthcare poor and underserved. in press.
Clinical Sequencing Exploratory Research (CSER). https://www.genome.gov/27546194/clinical-sequencing-exploratory-research/(2017) . Accessed 16 Feb 2017.
Electronic Medical Records and Genomics (eMERGE) Network. https://www.genome.gov/27540473/electronic-medical-records-and-genomics-emerge-network/(2017) . Accessed 16 Feb 2017.
Castaneda C, Nalley K, Mannion C, Bhattacharyya P, Blake P, Pecora A, et al. Clinical decision support systems for improving diagnostic accuracy and achieving precision medicine. J Clin Bioinform. 2015;5(1):1–16.
Akerkar R. Towards an intelligent integrated approach for clinical decision-support. In: Aggarwal A, editor. Managing big data integration in the public sector. Hershey PA: IGI Global; 2016. p. 187–205.
Crawford DC, Crosslin DR, Tromp G, Kullo IJ, Kuivaniemi H, Hayes MG, et al. eMERGEing progress in genomics—the first seven years. Front Genet. 2014;5(184):1–11.
Barash CI, Elliston KO, Faucett WA, Hirsch J, Naik G, Rathjen A, et al. Harnessing big data for precision medicine: A panel of experts elucidates the data challenges and proposes key strategic decisions points. Appl Transl Genomics. 2015;4:10–3.
Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015;22(6):1231–42.
Peterson JF, Field JR, Unertl K, Schildcrout JS, Johnson DC, Shi Y, et al. Physician response to implementation of genotype‐tailored antiplatelet therapy. Clin Pharmacol Ther. 2016;100(1):67–74.
Amendola LM, Lautenbach D, Scollon S, Bernhardt B, Biswas S, East K, et al. Illustrative case studies in the return of exome and genome sequencing results. Pers Med. 2015;12(3):283–95.
Daack-Hirsch S, Campbell CA. The role of patient engagement in personalized healthcare. Pers Med. 2014;11(1):1–4.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, et al. Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet. 2016;98(6):1051–66.