Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework

作者: Ridgely Fisk Green , Mary Ari , Katherine Kolor , W. David Dotson , Scott Bowen

DOI: 10.1038/S41436-018-0028-2

关键词: DiseaseFamily medicinePublic health genomicsGenetic testingPolitical sciencePublic healthPsychological interventionEthnic groupResidenceLynch syndrome

摘要: Public health plays an important role in ensuring access to interventions that can prevent disease, including the implementation of evidence-based genomic recommendations. We used Centers for Disease Control and Prevention (CDC) Science Impact Framework trace impact public activities partnerships on 2009 Evaluation Genomic Applications Practice (EGAPP) Lynch Syndrome screening recommendation 2005 2013 United States Preventive Services Task Force (USPSTF) BRCA1 BRCA2 testing The EGAPP USPSTF recommendations have each been cited by >300 peer-reviewed publications. CDC funds selected states build capacity integrate these into programs, through education, policy, surveillance, partnerships. Most state cancer control plans include genomics-related goals, objectives, or strategies. Since recommendation, major private payers now provide coverage all newly diagnosed colorectal cancers. National guidelines initiatives, Healthy People 2020, included similar However, disparities based race, ethnicity, rural residence remain challenges. achievements promoting use genomics prevention hereditary cancers inform future applications health.

参考文章(52)
Scott D. Grosse, Glenn E. Palomaki, Mercy Mvundura, Heather Hampel, The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: corrected estimates. Genetics in Medicine. ,vol. 17, pp. 510- 511 ,(2015) , 10.1038/GIM.2015.53
M.J. Duffy, R. Lamerz, C. Haglund, A. Nicolini, M. Kalousová, L. Holubec, C. Sturgeon, Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update International Journal of Cancer. ,vol. 134, pp. 2513- 2522 ,(2014) , 10.1002/IJC.28384
Jason D. Laufman, Debra Duquette, Angela Trepanier, Evaluation of state comprehensive cancer control plans for genomics content. Preventing Chronic Disease. ,vol. 9, pp. 120190- ,(2012) , 10.5888/PCD9.120190
Stamatia Destounis, Andrea Arieno, Renee Morgan, Implementation of a risk assessment program in a breast-imaging community practice Breast Cancer. ,vol. 23, pp. 273- 278 ,(2016) , 10.1007/S12282-014-0569-4
Janice L. Berliner, Angela Musial Fay, Shelly A. Cummings, Brittany Burnett, Todd Tillmanns, NSGC Practice Guideline: Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer Journal of Genetic Counseling. ,vol. 22, pp. 155- 163 ,(2013) , 10.1007/S10897-012-9547-1
Wylie Burke, Julie Culver, Linda Pinsky, Sarah Hall, Susan E. Reynolds, Yutaka Yasui, Nancy Press, Genetic assessment of breast cancer risk in primary care practice. American Journal of Medical Genetics Part A. ,vol. 149, pp. 349- 356 ,(2009) , 10.1002/AJMG.A.32643
Francis M Giardiello, John I Allen, Jennifer E Axilbund, Richard C Boland, Carol A Burke, Randall W Burt, James M Church, Jason A Dominitz, David A Johnson, Tonya Kaltenbach, Theodore R Levin, David A Lieberman, Douglas J Robertson, Sapna Syngal, Douglas K Rex, Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer The American Journal of Gastroenterology. ,vol. 109, pp. 1159- 1179 ,(2014) , 10.1038/AJG.2014.186
Cecelia A. Bellcross, Sara R. Bedrosian, Elvan Daniels, Debra Duquette, Heather Hampel, Kory Jasperson, Djenaba A. Joseph, Celia Kaye, Ira Lubin, Laurence J. Meyer, Michele Reyes, Maren T. Scheuner, Sheri D. Schully, Leigha Senter, Sherri L. Stewart, Jeanette St. Pierre, Judith Westman, Paul Wise, Vincent W. Yang, Muin J. Khoury, Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting Genetics in Medicine. ,vol. 14, pp. 152- 162 ,(2011) , 10.1038/GIM.0B013E31823375EA
Sarah Mange, Cecelia Bellcross, Deborah Cragun, Deb Duquette, Lisa Gorman, Heather Hampel, Kory Jasperson, Creation of a Network to Promote Universal Screening for Lynch Syndrome: The Lynch Syndrome Screening Network Journal of Genetic Counseling. ,vol. 24, pp. 421- 427 ,(2015) , 10.1007/S10897-014-9770-Z