Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network

Nina R Sperber, Janet S Carpenter, Larisa H Cavallari, Laura J Damschroder, Rhonda M Cooper-DeHoff, Joshua C Denny, Geoffrey S Ginsburg, Yue Guan, Carol R Horowitz, Kenneth D Levy, Mia A Levy, Ebony B Madden, Michael E Matheny, Toni I Pollin, Victoria M Pratt, Marc Rosenman, Corrine I Voils, Kristen W Weitzel, Russell A Wilke, R Ryanne Wu, Lori A Orlando, Nina R Sperber, Janet S Carpenter, Larisa H Cavallari, Laura J Damschroder, Rhonda M Cooper-DeHoff, Joshua C Denny, Geoffrey S Ginsburg, Yue Guan, Carol R Horowitz, Kenneth D Levy, Mia A Levy, Ebony B Madden, Michael E Matheny, Toni I Pollin, Victoria M Pratt, Marc Rosenman, Corrine I Voils, Kristen W Weitzel, Russell A Wilke, R Ryanne Wu, Lori A Orlando

Abstract

Background: To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified by six diverse projects that are part of a National Human Genome Research Institute (NHGRI)-funded network focused on implementing genomics into practice and strategies to overcome these challenges.

Methods: We used a multiple-case study approach with each project considered as a case and qualitative methods to elicit and describe themes related to implementation challenges and strategies. We describe challenges and strategies in an implementation framework and typology to enable consistent definitions and cross-case comparisons. Strategies were linked to challenges based on expert review and shared themes.

Results: Three challenges were identified by all six projects, and strategies to address these challenges varied across the projects. One common challenge was to increase the relative priority of integrating genomics within the health system electronic health record (EHR). Four projects used data warehousing techniques to accomplish the integration. The second common challenge was to strengthen clinicians' knowledge and beliefs about genomic medicine. To overcome this challenge, all projects developed educational materials and conducted meetings and outreach focused on genomic education for clinicians. The third challenge was engaging patients in the genomic medicine projects. Strategies to overcome this challenge included use of mass media to spread the word, actively involving patients in implementation (e.g., a patient advisory board), and preparing patients to be active participants in their healthcare decisions.

Conclusions: This is the first collaborative evaluation focusing on the description of genomic medicine innovations implemented in multiple real-world clinical settings. Findings suggest that strategies to facilitate integration of genomic data within existing EHRs and educate stakeholders about the value of genomic services are considered important for effective implementation. Future work could build on these findings to evaluate which strategies are optimal under what conditions. This information will be useful for guiding translation of discoveries to clinical care, which, in turn, can provide data to inform continual improvement of genomic innovations and their applications.

Keywords: Electronic health record; Implementation; Patient engagement; Pharmacogenomics; Precision medicine; Provider engagement.

References

    1. The Precision Medicine Initiative (PMW) Working Group. The Precision Medicine Initiative Cohort Program — Building a Research Foundation for 21st Century Medicine. September 17 2015. . Accessed 16 Feb 2017.
    1. Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793–795. doi: 10.1056/NEJMp1500523.
    1. National Academies of Sciences, Engineering, and Medicine . Applying an implementation science approach to genomic medicine: workshop summary. Washington, DC: The National Academies Press; 2016.
    1. 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):948–955. doi: 10.1038/ajg.2014.417.
    1. Shahin MHA, Johnson JA. Clopidogrel and warfarin pharmacogenetic tests: what is the evidence for use in clinical practice? Curr Opin Cardiol. 2013;28(3):305–314. doi: 10.1097/HCO.0b013e32835f0bbc.
    1. 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. doi: 10.1146/annurev-pharmtox-010814-124835.
    1. 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):1941–1942. doi: 10.1001/jama.2016.3867.
    1. Burke W, Korngiebel DM. Closing the gap between knowledge and clinical application: Challenges for genomic translation. Plos Genetics. 2015;11(2):1–9.
    1. Chambers D, Ginsburg GS. The intersection between precision medicine and implementation science. CDC Public Health Genomics Webinar. 2016. . Accessed 16 Feb 2017.
    1. 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):258–267. doi: 10.1038/gim.2012.157.
    1. Feero WG, Manolio TA, Khoury MJ. Translational research is a key to nongeneticist physicians’ genomics education. Genet Med. 2014;16(12):871–873. doi: 10.1038/gim.2014.67.
    1. Johnson JA, Weitzel KW. Advancing pharmacogenomics as a component of precision medicine: how, where, and who? Clin Pharmacol Ther. 2016;99(2):154–156. doi: 10.1002/cpt.273.
    1. 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. doi: 10.3390/healthcare3030830.
    1. 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. doi: 10.1186/s12920-015-0162-5.
    1. Fisher ES, Shortell SM, Savitz LA. Implementation science: a potential catalyst for delivery system reform. JAMA. 2016;315(4):339–340. doi: 10.1001/jama.2015.17949.
    1. 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. doi: 10.1186/1748-5908-4-50.
    1. 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.
    1. Yin RK. Case study research: design and methods. 5. Washington DC: Sage; 2014.
    1. 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. doi: 10.1186/s13012-015-0295-0.
    1. 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. doi: 10.1186/s13012-015-0209-1.
    1. 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;47:101–108. doi: 10.1016/j.cct.2015.12.020.
    1. Relling MV, Klein TE. CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin Pharmacol Ther. 2011;89(3):464–467. doi: 10.1038/clpt.2010.279.
    1. 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):405–424. doi: 10.1038/gim.2015.30.
    1. 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. doi: 10.1038/gim.2016.13.
    1. 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. doi: 10.1177/2050312115624333.
    1. Peterson JF, Field JR, Shi Y, et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharmacogenomics J. 2016;16(4):393–398. doi: 10.1038/tpj.2015.57.
    1. Larson EA, Wilke RA. Integration of genomics in primary care. Am J Med. 2015;128(11):1251. e1–5. doi: 10.1016/j.amjmed.2015.05.011.
    1. McDaniels AK. University of Maryland School of Medicine researchers are studying a rare form of diabetes In: The Baltimore Sun. December 22, 2015\. . Accessed 16 Feb 2017.
    1. 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.
    1. Clinical Sequencing Exploratory Research (CSER). . Accessed 16 Feb 2017.
    1. Electronic Medical Records and Genomics (eMERGE) Network. . Accessed 16 Feb 2017.
    1. 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. doi: 10.1186/s13336-015-0019-3.
    1. 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. pp. 187–205.
    1. 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.
    1. 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;4:10–13. doi: 10.1016/j.atg.2015.02.002.
    1. 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):1231–1242.
    1. 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. doi: 10.1002/cpt.331.
    1. Murray MF. Educating physicians in the era of genomic medicine. Genome Med. 2014;6(6):1–3. doi: 10.1186/gm564.
    1. 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):283–295. doi: 10.2217/pme.14.89.
    1. Daack-Hirsch S, Campbell CA. The role of patient engagement in personalized healthcare. Pers Med. 2014;11(1):1–4. doi: 10.2217/pme.13.102.
    1. 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):1051–1066. doi: 10.1016/j.ajhg.2016.04.011.
    1. Varsi C, Ekstedt M, Gammon D, Ruland CM. Using the consolidated framework for implementation research to identify barriers and facilitators for the implementation of an internet-based patient-provider communication service in five settings: a qualitative study. J Med Internet Res. 2015;17(11):e262.

Source: PubMed

3
Abonneren