“Omics” 101 for medicine and public health

Discussion:   (slides   6.19MB) (videocast 1:08 min)

• Burke W, Khoury MJ, Stewart A, Zimmern RL. The path from genome-based research to population health: Development of an international public health genomics network. Genetics In Medicine 2006; 8(7):451-8. ( 1.12mb)
• Genome-based Research and Population Health. Report of an expert workshop held at the Rockefeller Foundation Study and Conference Centre Bellagio, Italy, 14 - 20 April 2005. ( 1.15mb)

Cancer genetic epidemiology: what has worked and what has not worked?

Speaker:  Robert Hoover, NCI  
(slides   925KB) (videocast including introduction by Muin Khoury 56:12 min)

Speaker: Teri Manolio, NHGRI    (slides   1.29MB) (videocast 34:22 min)

• Manolio TA, Bailey-Wilson JE, and Collins FS. Genes, environment and the value of prospective cohort studies. Nature 2006;7:812-20. ( 439.67kb)
• Willett WC, et al. Commentary: Merging and emerging cohorts. Nature 2007;445:257-8. ( 248.97kb)
• Collins FS, and Manolio TA. Commentary: Necessary but not sufficient. Nature 2007. ( 110.27kb)
• Hoover RN. The Evolution of Epidemiologic Research: From Cottage Industry to "Big" Science. Epidemiology 2007;18(1):13-7. ( 392.54kb)

Beyond Nature/Nurture: transdisciplinary approach to genomic, behavioral and social science research

Speaker: Colleen McBride, NHGRI     (slides   2.9MB) (videocast 48:12 min)

• McBride, CM. Blazing a trail: A public health research agenda in genomics and chronic disease. Preventing Chronic Disease 2005;2(2):1-5. ( 181.04kb)
• Moffitt TE, Caspi A, Rutter M. Interactions in psychopathology: Concepts, research strategies, and implications for research, intervention, and public understanding of genetics. Perspective Psychological Science 2006;1(1):5-27. ( 228.51kb)

Grading cumulative evidence, integrating biology, and developing online knowledge base

Speaker: Muin J. Khoury, CDC     (slides   1.85MB) (videocast   45:45 min)

Cancer example: Genetic polymorphisms, environmental exposures and bladder cancer

Speaker: Nat Rothman, NCI     (slides   734.5KB) (videocast   52:33 min)

• García-Closas M, Malats N, Silverman D, Dosemeci M, Kogevinas M, Hein DW, Tardón A, Serra C, Carrato A, García-Closas R, Lloreta J, Castaño-Vinyals G, Yeager M, Welch R, Chanock S, Chatterjee N, Wacholder S, Samanic C, Torá M, Fernández F, Real FX, Rothman N. NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. Lancet 2005; 366:649-59. ( 159.29kb)
• Ioannidis JPA, Gwinn M, Little J, Higgins JPT, Bernstein JL, Boffetta P, Bondy M, Bray MS, Brenchley PE, Buffler PA, Casas JP, Chokkalingam A, Danesh J, Smith GD, Dolan S, Duncan R, Gruis NA, Hartge P, Hashibe M, Hunter DJ, Jarvelin MR, Malmer B, Maraganore DM, Newton-Bishop JA, O'Brien TR, Petersen G, Riboli E, Salanti G, Seminara D, Smeeth L, Taioli E, Timpson N, Uitterlinden AG, Vineis P, Wareham N, Winn DM, Zimmern R, Khoury MJ. A road map for efficient and reliable human genome epidemiology. Nature Genetics 2006; 38:3-5. ( 124.24kb)
• Lin BK, Clyne M, Walsh M, Gomez O, Yu W, Gwinn M, Khoury MJ. Tracking the Epidemiology of Human Genes in the Literature: The HuGE Published Literature Database. Am J Epidemiol. 2006 Jul 1;164(1):1-4. ( 59.16kb)
• Seminara D, Khoury MJ, O'Brien TR, Manolio T, Gwinn ML, Little J, Higgins JP, Bernstein JL, Boffetta P, Bondy M, Bray MS, Brenchley PE, Buffler PA, Casas JP, Chokkalingam AP, Danesh J, Davey SG, Dolan S, Duncan R, Gruis NA, Hashibe M, Hunter D, Jarvelin MR, Malmer B, Maraganore DM, Newton-Bishop JA, Riboli E, Salanti G, Taioli E, Timpson N, Uitterlinden AG, Vineis P, Wareham N, Winn DM, Zimmern R, Ioannidis JP. The emergence of networks in human genome epidemiology: challenges and opportunities. Epidemiology 2007; 18(1):1-8. ( 291.89kb)

A public health framework for genetic test evaluation

Speaker: Muin J. Khoury, CDC  (slides   1.51MB) (videocast   32:28 min)

Evidence-based Guidelines for the Evaluation of Genomic Applications in Practice and Prevention

• CDC Information on Genetic Testing (featuring ACCE)
• Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative
• Janssens AC, Gwinn M, Valdez R, Narayan KM, Khoury MJ. Predictive genetic testing for type 2 diabetes. BMJ 2006 ;333(7567):509-10. ( 71.44kb)
• Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8(7):448-50. ( 110.10kb)

What is the role of professional organizations, consumers, oversight and regulation?

• Hudson K. 2007. Prohibiting genetic discrimination. New England Journal of Medicine 356(20): 2021-2023. ( 125kb)
• Javitt G. and Hudson K. 2007. The right prescription for personalized genetic medicine. Personalized Medicine 4(2): 115-118. ( 164kb)
• Hudson K., Murphy J., Kaufman D., Javitt G., Katsanis S., and Scott J. 2006. Oversight of US genetic testing laboratories. Nature Biotechnology 24(9): 1083-1090. ( 195kb)
• Kerner J.F,Guirguis-Blake J., Hennessy K.D., Brounstein P.J., Vinson C., Schwartz R.H., Myers B.A., and Briss P. 2005. Translating research into improved outcomes in comprehensive cancer control. Cancer Causes and Control 16(Suppl. 1): 27-40. ( 274kb)
• Kerner J.F. 2006. Knowledge translation versus knowledge integration: a "funder’s" perspective. The Journal of Continuing Education in the Health Professions Vol. 26, 72-80. ( 187kb)
• Park E.R., Kleimann S., Shields A.E., and Pelan J.A. 2007. Anticipating clinical integration of genetically tailored tobacco dependence treatment: Perspectives of primary care physicians Nicotine & Tobacco Research, 9(2), 271 - 279 ( 255kb)
• Lerman C. and Shields A.E. 2004. Genetic testing for cancer susceptibility: the promise and the pitfalls Nature Reviews Cancer, 4(March), 235 - 241 ( 258kb)
• Parthasarathy S. 2005. Architectures of genetic medicine: comparing genetic testing for breast cancer in the USA and the UK. Social Studies of Science 35(1) 5-40 ( 2.86mb)

Role of public health agencies in assessing and assuring appropriate use of genomics in population health

Applied research for genomic applications in clinical practice

• Beskow L, Khoury MJ, Baker TG, Thrasher J. The Integration of Genomics into Public Health Research, Policy, and Practice in the United States. Community Genetics 2001;4:2-11.  
• Khoury MJ, McCabe L, McCabe ERB. Population screening in the age of genomic medicine.( 118kb) New Engl J Med 2003;348:50-58.
• Lindegren ML, Lyn S, Moore CA. The role of human genomics in acute public health investigations: current practice and future strategies. CDC Genomics and Population Health Report 2005.
• Goddard KAB, Moore C, Ottman D, Bradley L,Khoury MJ. Awareness and use of direct to consumer nutrigenomic tests, United States, 2006. ( 333kb) Genet Med 2007;9:510-517.
• Meropol NJ, Schulman KA. 2007. Cost of Cancer Care: Issues and Implications. ( 135kb) J Clin Oncol 25(2), 180-186.(pdf, 135kb)
• Genetic Tests for Cancer. Prepared for the Agency for Healthcare Research and Quality. ( 487kb)
• Hall MJ, Olopade OI. 2006. Disparities in Genetic Testing: Thinking Outside the BRCA Box. J Clin Oncol 24(14), 2197-2203. ( 105kb)

The Surgeon General family history initiative: why is family history important in the genomics age?

Speaker: Alan Guttmacher, NHGRI  (slides   1.23MB)(videocast   35:49 min)

Speaker: Paula Yoon, CDC (slides   1.62MB)(videocast   48:36 min)

• Guttmacher AE, Collins FS, Carmona RH. The family history--more important than ever. ( 71.1kb) New England Journal of Medicine 2004; Nov 25; 351(22):2333-6.
• Valdez R, Yoon PW, Liu T, Khoury MJ. Family history and prevalence of diabetes in the US population: 6-year results from the National Health and Nutrition Examination Survey (NHANES, 1999 2004). ( 120kb) Diabetes 2007; Jul 31 [Epub ahead of print]
• Valdez R, Greenlund KJ, Khoury MJ, Yoon PW. Is family history a useful tool for detecting children at risk for diabetes and cardiovascular diseases? A public health perspective. ( 272kb) Pediatrics 2007 Sep; 120 Suppl 2: S78-86.
• Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Familial risk assessment for early-onset coronary heart disease. ( 103kb) Genetics in Medicine 2006 Aug; 8(8):525-31.

Genomic medicine and health disparities

Speaker: Charles Rotimi, Howard University  (slides   1.02MB) (videocast   48:36 min)

Speaker: Muin J. Khoury, CDC  (slides   2.29MB) (videocast   40:33 min)

• Khoury MJ, Gwinn M, Burke W, Bowen S, Zimmern R. Will Genomics Widen or Help Heal the Schism Between Medicine and Public Health? ( 116.76kb) Am J Prev Med 2007; 33(4); 310-3117.
• Scheumer MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Familial risk assessment for early-onset coronary heart disease. ( 323.76kb) Genet Med 2007:9(10):665-674.
• Foster MW and Sharp RR. Beyond race: towards a whole-genome perspective on human populations and genetic variation. ( 198kb) Nat Rev Genet 2004;5(10):790-796.
• Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, & The International HapMap Consortium. Genome-wide detection and characterization of positive selection in human populations. ( 1mb) Nature 2007;449(7164):913-913.
• Rotimi CN. Are medical and nonmedical users of large-scale genomic markers conflating genetics and 'race'?. ( 118kb) Nat Genet 36(11 Suppl):S43-47.
• Genes, drugs and race. ( 52kb) Nat Genet 2001;29(3):239-240.
• Duster T. Race and Reification in Science. ( 110kb) Science 2005;307(5712):1050-1051.
• Slicing soup. ( 62kb) Nat Biotechnol 2002;20(7):637.
• Garcia RS. The Misuse of Race in Medical Diagnosis. ( 225kb) Pediatrics 2004;113:1394-1395.
• Sankar P, Cho MK, Mountain J. Race and Ethnicity in Genetic Research. ( 127 kb) Am J Med Genet A 2007;143(9):961-970.