The scientific foundation for personal genomics: Recommendations from a national institutes of health-centers for disease control and prevention multidisciplinary workshop

Genetics in Medicine

Volumn 11, Issue 8, 2009, Pages 559-567

  Khoury, Muin J ^a,b   McBride, Colleen M ^c   Schully, Sheri D ^b   Ioannidis, John P A ^d,ad   Feero, W Gregory ^c   Janssens, A Cecile J W ^e   Gwinn, Marta ^a   Simons Morton, Denise G ^f   Bernhardt, Jay M ^g   Cargill, Michele ^h   Chanock, Stephen J ^b   Church, George M ⁱ   Coates, Ralph J ^a   Collins, Francis S ^c   Croyle, Robert T ^b   Davis, Barry R ^j   Downing, Gregory J ^k   Duross, Amy ^h   Friedman, Susan ^l   Gail, Mitchell H ^b   Ginsburg, Geoffrey S ^m   Green, Robert C ⁿ   Greene, Mark H ^b   Greenland, Philip ^o   Gulcher, Jeffrey R ^p   Hsu, Andro ^q   Hudson, Kathy L ^r   Kardia, Sharon L R ^s   Kimmel, Paul L ^t   Lauer, Michael S ^f   Miller, Amy M ^u   Offit, Kenneth ^v   Ransohoff, David F ^w   Roberts, J Scott ^s   Rasooly, Rebekah S ^t   Stefansson, Kari ^p   Terry, Sharon F ^x   Teutsch, Steven M ^y   Trepanier, Angela ^z   Wanke, Kay L ^aa   Witte, John S ^ab   Xu, Jianfeng ^ac   more..

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF IOANNINA   (Greece)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^g National Center for Health Marketing   (United States)

^h Navigenics Inc   (United States)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^k U S DEPARTMENT OF HEALTH AND HUMAN SERVICES   (United States)

^l Facing Our Risk of Cancer Empowered FORCE   (United States)

^m DUKE UNIVERSITY   (United States)

ⁿ BOSTON UNIVERSITY   (United States)

^o NORTHWESTERN UNIVERSITY   (United States)

^p DECODE GENETICS   (Iceland)

^q University of Michigan ^*  (United States)

^r JOHNS HOPKINS UNIVERSITY   (United States)

^s UNIVERSITY OF MICHIGAN   (United States)

^t NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^u Personalized Medicine Coalition   (United States)

^v MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^w UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^x GENETIC ALLIANCE   (United States)

^y Los Angeles County Department of Public Health   (United States)

^z WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^aa NATIONAL INSTITUTES OF HEALTH   (United States)

^ab UNIVERSITY OF CALIFORNIA   (United States)

^ac WAKE FOREST SCHOOL OF MEDICINE   (United States)

^ad TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Behavioral sciences; Epidemiologic methods; Evidence based medicine; Genetic testing; Genetics; Genomics; Medicine; Public health

Indexed keywords

BEHAVIORAL RESEARCH; CONFERENCE PAPER; CONTROLLED STUDY; EVIDENCE BASED MEDICINE; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENOMICS; HEALTH STATUS; INFORMATION DISSEMINATION; NATIONAL HEALTH ORGANIZATION; PROPHYLAXIS; RISK ASSESSMENT;

GENOMICS; HUMANS; INFORMATION DISSEMINATION; NATIONAL INSTITUTES OF HEALTH (U.S.); PERSONAL HEALTH SERVICES; UNITED STATES;

EID: 69549126536     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181b13a6c     Document Type: Conference Paper

References (105)

1. Manolio TA, Brooks LD, Collins FS. A hapmap harvest of insights into the genetics of common diseases. J Clin Invest 2008;18:1590-1605.
2. Feero WG, Guttmacher AE, Collins FS. The genome gets personal, almost. JAMA 2008;299:1351-1352.
3. Offit K. Genomic profiles for disease risk: predictive or premature? JAMA 2008;299:1353-1355.
4. Hunter DJ, Khoury MJ, Drazen JM. Letting the genome out of the bottle: will we get our wish? N Engl J Med 2008;358:105-107.
5. McGuire AL, Burke W. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA 2008;300:2669-2671.
6. Prainsack B, Reardon J, Hindmarsh R, Gottweis H, Naue U, Lunshof JE. Personal genomes: misdirected precautions. Nature 2008;456:34-35.
7. Della LJ, Eroglu D, Bernhardt JM, Edgerton E, Nall J. Looking to the future of new media in health marketing: deriving propositions based on traditional theories. Health Mark Q 2008;25:147-174.
8. McBride CM, Alford SH, Reid RJ, Larson EB, Baxevanis AD, Brody LC. Putting science over supposition in the arena of personalized genomics. Nat Genet 2008;40:939-942.
9. National Cancer Institute: public health genomics website, workshop page. Available at: http://cancercontrol.cancer.gov/od/phg/workshop.html. Accessed February 25, 2009.
10. Secretary's Advisory Committee on Genetics, Health and Society. US system of oversight of genetic testing. Available at: http://www4.od.nih.gov/oba/ SACGHS/reports/SACGHS-oversight-report.pdf. Accessed March 4, 2009.
11. Miller SM, Bowen DJ, Croyle RT, Rowland JH. Overview, current status and future directions. In: Handbook of cancer control and behavioral science. Washington, DC: American Psychological Association, 2009:5-22.
12. Khoury MJ, McCabe L, McCabe ER. Population screening in the age of genomic medicine. N Engl J Med 2003;348:50-58. (Pubitemid 36026347)
13. 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. (Pubitemid 350287151)
14. Haddow JE, Palomaki GE. A model process for the evaluating data on emerging genetic tests. In: Khoury MJ, Little J, Burke W, editors. Human genome epidemiology: scope and strategies. New York: Oxford University Press, 2004:217-233.
15. 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.
16. EGAPP Working group. Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors. Genet Med 2007;9:799-800.
17. EGAPP working group. 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.
18. EGAPP working group. 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.
19. EGAPP working group. Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? Genet Med 2009;11:66-73.
20. Petitti D, Teutsch SM, Barton MB, Sawaya GF, Ockene JK, DeWitt T; U.S. Preventive Services Task Force. Update on the Methods of the U.S. Preventive Services Task Force: insufficient evidence. Ann Intern Med 2009;150:199-205.
21. Evaluation of Genomic Applications in Practice and Prevention website. Available at: http://www.egappreviews.org/. Accessed February 25, 2009.
22. Wideroff L, Phillips KA, Randhawa G, et al. A health services research agenda for cellular, molecular and genetic technologies. Public Health Genomics 2009;12:233-244.
23. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356-369. (Pubitemid 351556063)
24. Altshuler D, Daly MJ, Lander ES. Genetic mapping in human disease. Science 2008;322:881-888.
25. Cohen JC, Pertsemlidis A, Fahmi S, et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A 2006;103:1810-1815. (Pubitemid 43228775)
26. Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008;40:592-599. (Pubitemid 351601207)
27. Romeo S, Yin W, Kozlitina J, et al. Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest 2009;119:70-79.
28. Manolio TA. Cohort studies and the genetics of complex disease. Nature 2009;41:5-6.
29. Khoury MJ. The need for a global human genome epidemiology initiative. Nat Genet 2004;36:1027-1028.
30. Higgins JP, Little J, Ioannidis JP, et al. Turning the pump handle: evolving methods for integrating the evidence on gene-disease association. Am J Epidemiol 2007;166:863-866. (Pubitemid 47511697)
31. Zeggini E, Ioannidis JP. Meta-analysis in genome-wide association studies. Pharmacogenomics 2009;10:191-201.
32. Ioannidis JP, Boffetta P, Little J, et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2008;37:120-132. (Pubitemid 351228620)
33. Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Dujin CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82:593-595. (Pubitemid 351726114)
34. Available at: http://www.timesonline.co.uk/tol/news/uk/science/ article4692891.ece. Accessed June 1, 2009.
35. Available at: http://www.bio-itworld.com/issues/2008/nov-dec/cover-story- keeping-score-of-your-sequence.html?terms= SNPedia%3A+A+Wiki+for+Personal+Genomics. Accessed June 1, 2009.
36. Available at: http://oba.od.nih.gov/oba/SACGHS/meetings/july2008/Duncan. pdf. Accessed June 1, 2009.
37. 23andme. Available at: https://www. 23andme.com/. Accessed February 25, 2009.
38. Navigenics. Available at: http://www.navigenics.com/. Accessed February 25, 2009.
39. DeCODEme. Available at: http://www.decodeme.com/. Accessed February 25, 2009.
40. Personalized Medicine Coalition: Personal genomics and industry standards: scientific validity. Available at: http://cancercontrol.cancer.gov/ od/phg/docs/PMCSciValid.pdf. Accessed February 25, 2009.
41. Yu W, Gwinn M, Clyne M, Yesupria A, Khoury MJ. A navigator for human genome epidemiology. Nat Genet 2008;40:124-125. Available at: http://hugenavigator.net/. Accessed June 1, 2009.
42. USC Genome Browser. Available at: http://genome.ucsc.edu/. Accessed February 25, 2009.
43. GeneTests. Available at: http://www.genetests.org/. Accessed February 25, 2009.
44. PharmGKB. Available at: http://www.pharmgkb.org/. Accessed February 25, 2009.
45. Kraft P, Wacholder S, Cornelis MC, et al. Beyond odds ratios: communicating disease risks based on genetic profiles. Nat Rev Genet 2009;10:264-269.
46. Offit K, Garber J. Time to check CHEK2 in families with breast cancer? J Clin Oncol 2008;26:519-520. (Pubitemid 351264342)
47. Gail MH, Pfeiffer RM. On criteria for evaluating models of absolute risk. Biostatistics 2005;6:227-239.
48. van Hoek M, Dehghan A, Witteman JC, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes 2008;57:3122-3128.
49. Lango H; UK Type 2 Diabetes Genetics Consortium, Palmer CN, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes 2008;57:3129-3135.
50. Cook NR. Comments on evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond. Stat Med 2008;27:191-195.
51. Cook NR. Use and misuse of the receiver operating characteristic curve in risk prediction. Circulation 2007;115:928-935. (Pubitemid 46294733)
52. Janes H, Pepe MS, Gu W. Assessing the value of risk prediction by using risk stratification tables. Ann Intern Med 2008;149:751-760.
53. Pepe MS, Janes HE. Gauging the performance of SNPs, biomarkers, and clinical factors in predicting risk of breast cancer. J Natl Cancer Inst 2008;100:978-979.
54. D'Agostino RB Sr, Vasan RS, Pencina MJ, et al. General cardiovascular risk profile for use in primary care: the Framingham Heart Study. Circulation 2008;117:743-753.
55. Gail MH. Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. J Natl Cancer Inst 2008;100:1037-1041.
56. Jannssens AC, VanDujin CM. Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 2008;17:R166-R173.
57. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genetics 2009;5:e1000337.
58. Janssens AC, Moonesinghe R, Yang Q, Steyerberg EW, van Dujin CM, Khoury MJ. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med 2007;9:528-535. (Pubitemid 47282041)
59. Pepe MS, Feng Z, Huang Y, et al. Integrating the predictiveness of a marker with its performance as a classifier. Am J Epidemiol 2008;167:362-368. (Pubitemid 351197592)
60. Pencina MJ, D'Agostino RB Sr, D'Agostino SR Jr, Vasan RS. Evaluating the added predictive ability of a new marker: from area under the ROC curve to reclassification and beyond. Stat Med 2008;30:157-172.
61. Paynter NP, Chasman DI, Buring JE, Shiffman D, Cook NR, Ridker PM. Cardiovascular disease risk prediction with and without knowledge of genetic variation at chromosome 9p21.3. Ann Intern Med 2009;150:65-72.
62. Brautbar A, Ballantyne C, Lawson K, et al. Impact of Adding a Single Allele in the 9p21 Locus to Traditional Risk Factors on Risk Classification for Coronary Heart Disease and Implications for Lipid-Modifying Therapy in the White Population of the Atherosclerosis Risk in Communities (ARIC) Study. American Heart Association Meeting 2008, Abstract 5090.
63. Talmud PJ, Cooper JA, Palmen J, et al. Chromosome 9p21.3 Coronary Heart Disease Locus Genotype and Prospective Risk of CHD in Healthy Middle-Aged Men. Clin Chem 2008;54:453-455. (Pubitemid 351348157)
64. Ioannidis JP. Personalized genetic prediction: too limited, too expensive or too soon. Ann Intern Med 2009;150:139-141.
65. Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8:448-450. (Pubitemid 44289007)
66. Willensky GR. Developing a center for comparative effectiveness information. Health Aff 2006;25:w572-w585.
67. Roberts JS, Barber M, Brown T, et al. Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multi-site, randomized clinical trial. Genet Med 2004;6:197-203. (Pubitemid 39005859)
68. LaRusse SA, Roberts JS, Marteau T, et al. Genetic susceptibility testing versus family history-based risk assessment: impact upon perceived risk of Alzheimer's disease. Genet Med 2005;7:48-53. (Pubitemid 40111131)
69. Zick CD, Matthews C, Roberts JS, Cook-Deegan R, Pokorski RJ, Green RC. Genetic susceptibility testing for Alzheimer's disease and its impact on insurance behavior. Health Aff 2005;24:483-490. (Pubitemid 40528968)
70. Chao S, Roberts JS, Marteau TM, Silliman R, Cupples LA, Green RC. Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL Study. Alzheimer Dis Assoc Disord 2008;22:94-97. (Pubitemid 351651404)
71. Green R, Roberts J, Cupples L; for the REVEAL Study. Disclosure of APOE genotype for risk of Alzheimer's Disease. N Engl J Med In press.
72. Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet Med 2009;11:570-574.
73. Lord SJ, Irwing L, Simes RJ. When is measuring sensitivity and specificity sufficient to evaluate a new diagnostic test, and when do we need randomized trials? Ann Intern Med 2006;144:850-855.
74. Wang L, Weinshilboum RM. Pharmacogenomics: candidate gene identification, functional validation and mechanisms. Hum Mol Genet 2008;17(R2):R174-R179.
75. Weinshilboum RM, Wang L. Pharmacogenetics and pharmacogenomics: development, science, and translation. Annu Rev Genomics Hum Genet 2006;7:223-245. (Pubitemid 44627929)
76. Shurin SB, Nabel EG. Pharmacogenomics-ready for prime time. N Engl J Med 2008;358:1061-1063.
77. Lackner TA. Pharmacogenomic dosing of warfarin: ready or not? Consult Pharm 2008;23:614-619.
78. International warfarin pharmacogenetics consortium. Estimation of the warfarin dose with clinical and genetic data. N Engl J Med 2009;360:753-764.
79. Woodcock J, Lesko L. Pharmacogenetics: tailoring treatments for the outliers. N Engl J Med 2009;360:811-813.
80. Eckman MH, Rosand J, Greenberg SM, Gage BF. Cost-effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation. Ann Intern Med 2009;150:73-83.
81. Marteau TM, Weinman J. Self-regulation and the behavioral response to DNA risk information: a theoretical analysis and framework for future research. Soc Sci Med 2006;62:1360-1368. (Pubitemid 43204245)
82. Marteau TM, Senior V, Humphries SE, et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet Part A 2004;128A:285-293. (Pubitemid 38849898)
83. Phelan JC, Yang LH, Cruz-Rojas R. Effects of attributing serious mental illnesses to genetic causes on orientations to treatment. Psychiatr Serv 2006;57:382-387. (Pubitemid 43364190)
84. Picot J, Bryant J, Cooper K, et al. Psychosocial aspects of DNA testing for hereditary hemochromatosis in at risk individuals: a systematic review. Genet Test 2009;13:7-14.
85. Douma KF, Aaronson NK, Vasen HF, Bleiker EM. Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature. Psychooncology 2008;17:737-745.
86. McBride CM, Brody LC. Point: genetic risk feedback for common disease: time to test the waters. Cancer Epidemiol Biomarkers Prev 2007;16:1724-1726.
87. Thompson PA. Counterpoint: genetic risk feedback for common disease: time to test the waters. Cancer Epidemiol Biomarkers Prev 2007;16:1727-1729.
88. McBride CM. Blazing a trail: a public health research agenda in genomics and chronic disease. Prev Chron Dis 2005;2:A04.
89. Snyder LB, Hamilton MA, Mitchell EW, Kiwanuka-Tondo J, Fleming-Milici F, Proctor D. A meta-analysis of the effect of mediated health communication campaigns on behavior change in the United States. J Health Commun 2004;(9 suppl 1): 71-96. (Pubitemid 38367019)
90. Weitzel JA, Bernhardt JM, Usdan S, Mays D, Glanz K. Using wireless handheld computers and tailored text messaging to reduce negative consequences of drinking alcohol. J Stud Alcohol Drugs 2007;68:534-537. (Pubitemid 47092981)
91. Gigerenzer G, Edwards A. Simple tools for understanding risks: from innumeracy to insight. BMJ 2003;327:741-744. (Pubitemid 37176763)
92. O'Doherty K, Suthers GK. Risky communication: pitfalls in counseling about risk, and how to avoid them. J Genet Couns 2007;16:409-417. (Pubitemid 47305499)
93. O'Neill SC, White DB, Sanderson SC, et al. The feasibility of online genetic testing for lung cancer susceptibility: uptake of a web-based protocol and decision outcomes. Genet Med 2008;10:121-130.
94. Lerman C, Gold K, Audrain J, et al. Incorporating biomarkers of exposure and genetic susceptibility into smoking cessation treatment: effects on smoking-related cognitions, emotions, and behavior change. Health Psychol 1997;16:87-99. (Pubitemid 127465956)
95. Jelalian E, Hart CN, Mehlenbeck RS, et al. Predictors of attrition and weight loss in an adolescent weight control program. Obesity 2008;16:1318-1323. (Pubitemid 351770528)
96. Shiwaku K, Nogi A, Anuurad E, et al. Difficulty in losing weight by behavioral intervention for women with Trp64Arg polymorphism of the beta3-adrenergic receptor gene. Int J Obes Relat Metab Disord 2003;27:1028-1036.
97. Burton PR, Hanssell AL, Fortoer I, et al. Size matters: just how big is BIG?: quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol 2009;38:263-273.
98. 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. Accessed February 25, 2009.
99. 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 February 25, 2009.
100. 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 June 1, 2009.
101. 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 February 25, 2009.
102. 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 February 25, 2009.
103. 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 February 25, 2009.
104. Khoury MJ, Feero WG, Reyes M, et al. The Genomic Applications in Practice and Prevention Network (GAPPNet). Genet Med. 2009;11:488-494.
105. Khoury MJ, Berg A, Coates R, Evans J, Teutsch SM, Bradley L. The evidence dilemma in genomic medicine. Health Aff 2008;27:1600-1611.