The IGNITE network: a model for genomic medicine implementation and research

被引:156
作者
Weitzel, Kristin Wiisanen [1 ,2 ]
Alexander, Madeline [3 ]
Bernhardt, Barbara A. [4 ]
Calman, Neil [5 ]
Carey, David J. [6 ]
Cavallari, Larisa H. [1 ,2 ]
Field, Julie R. [7 ]
Hauser, Diane [5 ]
Junkins, Heather A. [8 ]
Levin, Phillip A. [9 ]
Levy, Kenneth [10 ]
Madden, Ebony B. [8 ]
Manolio, Teri A. [8 ]
Odgis, Jacqueline [8 ]
Orlando, Lori A. [11 ,21 ]
Pyeritz, Reed [4 ]
Wu, R. Ryanne [11 ,21 ]
Shuldiner, Alan R. [12 ,13 ]
Bottinger, Erwin P. [14 ]
Denny, Joshua C. [15 ,16 ,17 ]
Dexter, Paul R. [10 ]
Flockhart, David A. [10 ]
Horowitz, Carol R. [18 ]
Johnson, Julie A. [1 ,2 ]
Kimmel, Stephen E. [3 ,19 ]
Levy, Mia A. [20 ]
Pollin, Toni I. [12 ]
Ginsburg, Geoffrey S. [21 ]
机构
[1] Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL USA
[2] Univ Florida, Coll Pharm, Ctr Pharmacogen, Gainesville, FL USA
[3] Univ Penn, Perelman Sch Med, Ctr Therapeut Effectiveness Res, Philadelphia, PA 19104 USA
[4] Univ Penn, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA
[5] Inst Family Hlth, New York, NY USA
[6] Geisinger Hlth Syst, Weis Ctr Res, Danville, PA USA
[7] Vanderbilt Univ, Sch Med, Inst Clin & Translat Res, Nashville, TN 37235 USA
[8] NHGRI, NIH, Div Genom Med, Bethesda, MD 20892 USA
[9] Bay West Endocrinol Associates & MODEL Clin Res, Baltimore, MD USA
[10] Indiana Univ, Sch Med, Dept Med, Bloomington, IN 47405 USA
[11] Duke Univ, Med Ctr, Div Gen Internal Med, Durham, NC 27710 USA
[12] Univ Maryland, Sch Med, Baltimore, MD 21201 USA
[13] Regeneron Pharmaceut Inc, Tarrytown, NY USA
[14] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA
[15] Vanderbilt Univ, Sch Med, Dept Biomed Informat, Nashville, TN 37235 USA
[16] Vanderbilt Univ, Sch Med, Dept Med, Nashville, TN 37235 USA
[17] Vanderbilt Univ, Sch Med, Dept Med, Div Gen Internal Med, Nashville, TN 37235 USA
[18] Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA
[19] Univ Penn, Perelman Sch Med, Ctr Clin Epidemiol & Biostat, Ctr Therapeut Effectiveness Res, Philadelphia, PA 19104 USA
[20] Vanderbilt Univ, Sch Med, Div Hematol & Oncol, Dept Biomed Informat, Nashville, TN 37235 USA
[21] Duke Univ, Med Ctr, Duke Ctr Appl Genom & Precis Med, Durham, NC 27708 USA
基金
美国国家卫生研究院;
关键词
Precision medicine; Pharmacogenomics; Genomics; Personalized medicine; Clinical decision support; Electronic health record; Implementation; RISK-ASSESSMENT; HISTORY;
D O I
10.1186/s12920-015-0162-5
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility. Methods: To address these challenges, the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE; www.ignite-genomics.org) Network, comprised of six projects and a coordinating center, was established in 2013 to support the development, investigation and dissemination of genomic medicine practice models that seamlessly integrate genomic data into the electronic health record and that deploy tools for point of care decision making. IGNITE site projects are aligned in their purpose of testing these models, but individual projects vary in scope and design, including exploring genetic markers for disease risk prediction and prevention, developing tools for using family history data, incorporating pharmacogenomic data into clinical care, refining disease diagnosis using sequence-based mutation discovery, and creating novel educational approaches. Results: This paper describes the IGNITE Network and member projects, including network structure, collaborative initiatives, clinical decision support strategies, methods for return of genomic test results, and educational initiatives for patients and providers. Clinical and outcomes data from individual sites and network-wide projects are anticipated to begin being published over the next few years. Conclusions: The IGNITE Network is an innovative series of projects and pilot demonstrations aiming to enhance translation of validated actionable genomic information into clinical settings and develop and use measures of outcome in response to genome-based clinical interventions using a pragmatic framework to provide early data and proofs of concept on the utility of these interventions. Through these efforts and collaboration with other stakeholders, IGNITE is poised to have a significant impact on the acceleration of genomic information into medical practice.
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页数:13
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