Abstract
The authors describe the rationale and initial development of a new collaborative initiative, the Genomic Applications in Practice and Prevention Network. The network convened by the Centers for Disease Control and Prevention and the National Institutes of Health includes multiple stakeholders from academia, government, health care, public health, industry and consumers. The premise of Genomic Applications in Practice and Prevention Network is that there is an unaddressed chasm between gene discoveries and demonstration of their clinical validity and utility. This chasm is due to the lack of readily accessible information about the utility of most genomic applications and the lack of necessary knowledge by consumers and providers to implement what is known. The mission of Genomic Applications in Practice and Prevention Network is to accelerate and streamline the effective integration of validated genomic knowledge into the practice of medicine and public health, by empowering and sponsoring research, evaluating research findings, and disseminating high quality information on candidate genomic applications in practice and prevention. Genomic Applications in Practice and Prevention Network will develop a process that links ongoing collection of information on candidate genomic applications to four crucial domains: (1) knowledge synthesis and dissemination for new and existing technologies, and the identification of knowledge gaps, (2) a robust evidence-based recommendation development process, (3) translation research to evaluate validity, utility and impact in the real world and how to disseminate and implement recommended genomic applications, and (4) programs to enhance practice, education, and surveillance.
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REFERENCES
- 1
Manolio TA, Brook LD, Collins FS . A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008; 118: 1590–1605.
- 2
Feero WG, Guttmacher AE, Collins FS . The genome gets personal-almost. JAMA 2008; 299: 1351–1352.
- 3
Department of Health and Human Services. Personalized healthcare initiative. Available at: http://www.hhs.gov/myhealthcare/. Accessed July 21 2008.
- 4
Secretary's Advisory Committee on Genetics Health and Society. US system of oversight of genetic testing. Available at: www4.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf. Accessed July 21 2008;
- 5
Khoury MJ, Bradley L, Berg A, et al. The evidence dilemma in genomic medicine: the need for a roadmap for translating genomic discoveries into clinical practice. Health Aff 2008; 27: 1600–1611.
- 6
Hudson KL, Holohan MK, Collins FS . Keeping pace with the times–the Genetic Information Nondiscrimination Act of 2008. N Engl J Med 2008; 358: 2661–2663.
- 7
Evaluation of Genomic Applications in Practice and Prevention (EGAPP). Available at: http://www.egappreviews.org/. Accessed January 1 2009;
- 8
Westfall JM, Mold J, Fagman L . Practice-based research—“blue highways” on the NIH road map. JAMA 2007; 297: 403–406.
- 9
Sung NS, Crowley WF, Genel M, et al. Central challenges facing the national clinical research enterprise. JAMA 2003; 289: 1278–1287.
- 10
Genome-based research and population health International Network (GRaPHInt). Available at: http://www.graphint.org. Accessed July 21 2008 .
- 11
Health Technology Assessment International. Available at: http://www.htai.org/ Accessed August 5 2008
- 12
Agency for Healthcare Research and Quality. Effective healthcare program. Available at: http://effectivehealthcare.ahrq.gov/aboutUs.cfm?abouttype=program. Accessed April 15 2009
- 13
Centers for Medicare and Medicaid Services. Coverage with evidence development. Available at: http://www.cms.hhs.gov/CoverageGenInfo/03_CED.asp. Accessed October 10 2008.
- 14
Food and Drug Administration. Sentinel initiative. Available at: http://www.fda.gov/oc/initiatives/advance/sentinel/. Accessed October 10 2008.
- 15
Health Resources and Services Administration. Maternal and Child Health Bureau. Available at: http://mchb.hrsa.gov/programs/ Accessed April 15 2009.
- 16
National Institutes of Health. Clinical and Translational Sciences Awards. Available at: http://www.ncrr.nih.gov/clinical_research_resources/clinical_and_translational_science_awards/. Accessed October 10 2008.
- 17
Institute of Medicine Roundtable on Evidence-based Medicine. Available at: http://www.iom.edu/CMS/28312/RT-EBM.aspx Accessed October 10, 2008.
- 18
Foundation for the National Institute of Health. Observational Medical Outcomes Partrnership. Available at: http://www.fnih.org/index.php?option=com_content&task=view&id=508&Itemid=643 Accessed October 10 2008
- 19
Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley C . “The continuum of translation research in genomic medicine” how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?. Genet Med 2007; 9: 665–674.
- 20
Gene Tests. http://www.genetests.org. Accessed August 5 2008
- 21
Agency for Healthcare Quality Research. US Task Force on Preventive Services. Available at: http://www.ahrq.gov/clinic/USpstfix.htm. Accessed August 5 2008
- 22
Teutsch SM, Bradley LA, Palomaki G, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP working group. Genet Med 2009; 11: 3–14.
- 23
EGAPP Recommendations from the EGAPP working group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?. Genet Med 2009; 11: 15–20.
- 24
EGAPP Recommendations from the EGAPP working group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009; 11: 35–41.
- 25
EGAPP Recommendations from the EGAPP working group: can tumor gene expression profiling improve outcomes in patients with breast cancer?. Genet Med 2009; 11: 66–73.
- 26
Nelson HD, Huffman LH, Fu R, Harris EL, U.S. Preventive Services Task Force Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med 2005; 143: 362–379.
- 27
Reid PP, Compton WD, Grossman JH, Fanjiang G, Building a better delivery system. Washington, DC National Academy of Sciences, National Academies Press, 2005.
- 28
Schuster MA, McGlynn EA, Brook RH . How good is the quality of health care in the United States. Milbank Q 2005; 83: 843–895.
- 29
McGlynn EA, Asch SM, Adams J, et al. The quality of health care delivered to adults in the United States. N Engl J Med 2003; 348: 2635–2645.
- 30
Centers for Disease Control and Prevention. Genomic applications in practice and prevention translation research. Funding announcement. Available at: http://www.cdc.gov/genomics/activities/fund2007_11_29.htm 2007; Accessed August 5, 2008.
- 31
National Institutes of Health. Funding announcement. translation of common disease genetics into clinical applications. Available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-DK-08-004.html. Accessed August 5 2008
- 32
National Cancer Institute. Program announcements on development application, and evaluation of prediction models for cancer risk and prognosis. Available at: http://grants.nih.gov/grants/guide/pa-files/PA-07-021.html. Accessed April 15 2009.
- 33
National Cancer Institute. Program announcement: understanding the effects of emerging cellular molecular,and genomic technologies on cancer health care delivery. Available at: http://grants.nih.gov/grants/guide/pa-files/PA-07-260.html. Accessed August 5 2008.
- 34
University of Pennsylvania. National Heart Lung and Blood Institute. Genotyped guided dosing of warfarin clinical trial. Available at: http://rt5.cceb.med.upenn.edu/warfdcc/WARF-1.html. Accessed September 22 2008.
- 35
Centers for Disease Control and Prevention. Genomic applications in practice and prevention translation programs in education surveillance, policy. Funding announcement. Available at: http://www.cdc.gov/od/pgo/funding/GD08-801.htm. Accessed August 5 2008.
- 36
Agency for Healthcare Research Quality. Computer-based clinical decision support (CDS) tools for gene-based tests used in breast cancer. Available at: http://effectivehealthcare.ahrq.gov/healthInfo.cfm?infotype=nr&ProcessID=68 . Accessed September 29 2008.
- 37
Armstrong K, Micco E, Carney A, Stopfer J, Putt M . Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA 2005; 293: 1729–1736.
- 38
Halbert CH, Kessler L, Stopfer JE, Domchek S, Wileyto EP . Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. Genet Med 2006; 8: 576–582.
- 39
Botkin JR, Smith KR, Croyle RT, et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A 2003; 118: 201–209.
- 40
Lerman C, Hughes C, Croyle RT, et al. Prophylactic surgery and surveillance practices one year following BRCA1/2 genetic testing. Prev Med 2000; 31: 75–83.
- 41
Myers M, Chang MH, Jorgensen C, et al. Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of direct to consumer marketing campaign on physicians' knowledge and practices. Genet Med 2006; 8: 361–370.
- 42
Goddard KAB, Moore C, Ottman D, Szegda KL, Bradley L, Khoury MJ . Awareness and use of direct to consumer nutrigenomic tests: United States 2006. Genet Med 2007; 9: 510–517.
- 43
Institute of Medicine. Roundtable on translating genome-based research for health. Available at: http://www.iom.edu/CMS/3740/44443.aspx. Accessed August 5, 2008.
- 44
American Public Health Association. Genomics Forum. Available at: http://aphagenomicsforum.org/index.php?note=AboutUs. Accessed August 5 2008.
- 45
National Coalition for Health Professional Education in Genetics. Available at: http://www.nchpeg.org/. Accessed August 5 2008.
- 46
Genetic Alliance. Available at: http://www.geneticalliance.org/. Accessed August 5 2008.
- 47
Personalized Medicine Coalition. Available at: http://www.personalizedmedicinecoalition.org/. Accessed August 5 2008.
- 48
Centers for Disease Control and Prevention. National Office of Public Health Genomics. Genomics in practice. Available at: http://www.cdc.gov/genomics/phpractice.htm. Accessed August 5 2008.
Acknowledgements
The authors thank the following individuals for comments on the article: Elizabeth Gillanders, Dina Paltoo, Margaret Piper, Leah Sansbury, and Daniela Seminara.
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The report does not necessarily reflect the views and policies of the Department of Health and Human Services.
Disclosure: The authors declare no conflict of interest.
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Khoury, M., Feero, W., Reyes, M. et al. The Genomic Applications in Practice and Prevention Network. Genet Med 11, 488–494 (2009) doi:10.1097/GIM.0b013e3181a551cc
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Keywords
- decision support
- genomics
- information
- medicine
- network
- public health
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