Genetic risk estimation in the Coriell Personalized Medicine Collaborative

Genetics in Medicine

Volumn 13, Issue 2, 2011, Pages 131-139

  Stack, Catharine B ^a   Gharani, Neda ^a   Gordon, Erynn S ^a   Schmidlen, Tara ^a   Christman, Michael F ^a   Keller, Margaret A ^a  

^a Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

Author keywords

absolute risk; family history risk; genetic education; genetic risk assessment; lifestyle risk; personalized medicine; relative risk

Indexed keywords

ARTICLE; CAUCASIAN; CORIELL PERSONALIZED MEDICINE COLLABORATIVE; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE; HEREDITY; HUMAN; LIFESTYLE; MEDICAL HISTORY; METHODOLOGY; OBSERVATIONAL STUDY; POPULATION; QUESTIONNAIRE;

DISEASE; ENVIRONMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC PRIVACY; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INDIVIDUALIZED MEDICINE; LIFE STYLE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 79951581464     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318201164c     Document Type: Article

References (66)

1. Hindorff LA, Ha J, Mehta JP, Manolio TA. A catalog of published genome-wide association studies. Available at: www.genome.gov/gwastudies. Accessed August 30, 2010.
2. Murphy J, Scott J, Kaufman D, Geller G, LeRoy L, Hudson K. Public expectations for return of results from large-cohort genetic research. Am J Bioeth 2008;8:36-43.
3. Wellcome Trust and Medical Research Council. Public perceptions of the collection of human biological samples. Summary report. London, UK: Wellcome Trust and Medical Research Council, 2000.
4. Rothstein MA. Tiered disclosure options promote the autonomy and well-being of research subjects. Am J Bioeth 2006;6:20-21.
5. Shalowitz DI, Miller FG. Disclosing individual results of clinical research: implications of respect for participants. JAMA 2005;294:737-740. (Pubitemid 41159294)
6. Partridge AH, Winer EP. Informing clinical trial participants about study results. JAMA 2002;288:363-365. (Pubitemid 34761616)
7. Fuller BP, Kahn MJ, Barr PA, et al. Privacy in genetics research. Science 1999;285:1359-1361. (Pubitemid 29411656)
8. Beskow LM, Burke W, Merz JF, et al. Informed consent for population-based research involving genetics. JAMA 2001;286:2315-2321. (Pubitemid 33063154)
9. Clayton EW, Ross LF. Implications of disclosing individual results of clinical research. JAMA 2006;295:37. (Pubitemid 43042684)
10. Beskow LM, Burke W. Offering individual genetic research results: context matters. Sci Transl Med 2010;2:38cm20.
11. Ravitsky V, Wilfond BS. Disclosing individual genetic results to research participants. Am J Bioeth 2006;6:8-17. (Pubitemid 44691474)
12. Manolio TA, Bailey-Wilson JE, Collins FS. Genes, environment and the value of prospective cohort studies. Nat Rev Genet 2006;7:812-820. (Pubitemid 44413225)
13. Manolio TA. Cohort studies and the genetics of complex disease. Nat Genet 2009;41:5-6.
14. McBride CM, Brody LC. Point: genetic risk feedback for common disease time to test the waters. Cancer Epidemiol Biomarkers Prev 2007;16:1724-1726.
15. Lachance CR, Erby LA, Ford BM, Allen VC Jr, Kaphingst KA. Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers. Genet Med 2010;12:304-312.
16. Keller M, Gordon ES, Stack CB, et al. The Coriell Personalized Medicine Collaborative: a prospective study of the utility of personalized medicine. Personalized Med 2010;7:301-317.
17. CPMC. Available at: http://cpmc.coriell.org. Accessed June 15, 2010.
18. Schmidlen T, Gordon ES. Genomic literacy: Emerging themes among genetic counseling inquires from participants of the Coriell Personalized Medicine Collaborative. Presented at the 8th Annual Education Conference of the National Society of Genetic Counselors, Atlanta, Georgia. November 2009.
19. HuGENet. Available at: http://www.cdc.gov/genomics/hugenet/default.htm. Accessed June 15, 2010.
20. NHGRI GWAS catalog. Available at: http://www.genome.gov/gwastudies/. Accessed June 15, 2010.
21. Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science 2007;316: 836-837.
22. Davies HT, Crombie IK, Tavakoli M. When can odds ratios mislead? BMJ 1998;316:989-991. (Pubitemid 28135151)
23. Yang Q, Khoury MJ, Coughlin SS, Sun F, Flanders WD. On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility. Genet Med 2000;2:186-192. (Pubitemid 32010821)
24. Yang Q, Flanders WD, Moonesinghe R, Ioannidis JP, Guessous I, Khoury MJ. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Am J Hum Genet 2009;85:786-800.
25. Schwartz LM, Woloshin S, Welch HG. Misunderstandings about the effects of race and sex on physicians' referrals for cardiac catheterization. N Engl J Med 1999;341:279-283.
26. Jewell NP. Statistics for epidemiology. Boca Raton, Florida: Chapman & Hall; 2004.
27. Furukawa TA, Guyatt GH, Griffith LE. Can we individualize the 'number needed to treat'? An empirical study of summary effect measures in meta-analyses. Int J Epidemiol 2002;31:72-76. (Pubitemid 34284903)
28. Gigerenzer G, Edwards A. Simple tools for understanding risks: from innumeracy to insight. BMJ 2003;327:741-744. (Pubitemid 37176763)
29. Schlesselman JJ. Case-control studies: design, conduct, analysis. New York: Oxford University Press, 1982.
30. Yang Q, Flanders WD, Moonesinghe R, Ioannidis JP, Guessous I, Khoury MJ. Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Am J Hum Genet 2009;85:786-800.
31. Gail MH. Estimation and interpretation of models of absolute risk from epidemiologic data, including family-based studies. Lifetime Data Anal 2008;14:18-36.
32. Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature 2009;461:724-726.
33. Swan M. Multigenic condition risk assessment in direct-to-consumer genomic services. Genet Med 2010;12:279-288.
34. Rockhill B, Newman B, Weinberg C. Use and misuse of population attributable fractions. Am J Public Health 1998;88:15-19.
35. Janssens AC, Gwinn M, Valdez R, Narayan KM, Khoury MJ. Predictive genetic testing for type 2 diabetes. BMJ 2006;333:509-510. (Pubitemid 44408456)
36. Severi G, Byrnes GB, Hopper JL. Five genetic variants associated with prostate cancer. N Engl J Med 2008;358:2739-2740; author reply 2741. (Pubitemid 351860880)
37. CPMC Demo Accounts. Available at: http://cpmc.coriell.org/Demo/Demo- People.aspx. Accessed June 15, 2010.
38. Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JAMA 2009;301:304-308.
39. 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)
40. Zhang J, Yu KF. What's the relative risk? A method of correcting the odds ratio in cohort studies of common outcomes. JAMA 1998;280:1690-1691. (Pubitemid 28532993)
41. Wilson PW, D'Agostino RB, Levy D, Belanger AM, Silbershatz H, Kannel WB. Prediction of coronary heart disease using risk factor categories. Circulation 1998;97:1837-1847. (Pubitemid 28213628)
42. Schunkert H, Gotz A, Braund P, et al. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation 2008;117:1675-1684. (Pubitemid 351482592)
43. Myers RH, Kiely DK, Cupples LA, Kannel WB. Parental history is an independent risk factor for coronary artery disease: the Framingham Study. Am Heart J 1990;120:963-969. (Pubitemid 20346165)
44. D'Agostino RB Sr, Grundy S, Sullivan LM, Wilson P. Validation of the Framingham coronary heart disease prediction scores: results of a multiple ethnic groups investigation. JAMA 2001;286:180-187. (Pubitemid 32640849)
45. Meigs JB, Shrader P, Sullivan LM, et al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med 2008;359:2208-2219.
46. Wilson PW, Meigs JB, Sullivan L, Fox CS, Nathan DM, D'Agostino RB Sr. Prediction of incident diabetes mellitus in middle-aged adults: the Framing-ham Offspring Study. Arch Intern Med 2007;167:1068-1074. (Pubitemid 46835795)
47. Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221-230.
48. Zheng SL, Sun J, Wiklund F, et al. Cumulative association of five genetic variants with prostate cancer. N Engl J Med 2008;358:910-919. (Pubitemid 351397090)
49. Giovannucci E, Liu Y, Platz EA, Stampfer MJ, Willett WC. Risk factors for prostate cancer incidence and progression in the health professionals follow-up study. Int J Cancer 2007;121:1571-1578. (Pubitemid 47328718)
50. Brown KM, Macgregor S, Montgomery GW, et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 2008;40: 838-840. (Pubitemid 351913651)
51. Cho E, Rosner BA, Feskanich D, Colditz GA. Risk factors and individual probabilities of melanoma for whites. J Clin Oncol 2005;23:2669-2675. (Pubitemid 46179456)
52. Conley YP, Jakobsdottir J, Mah T, et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet 2006;15:3206-3218. (Pubitemid 44605500)
53. Smith W, Mitchell P. Family history and age-related maculopathy: the Blue Mountains Eye Study. Aust N Z J Ophthalmol 1998;26:203-206. (Pubitemid 28372494)
54. Cong R, Zhou B, Sun Q, Gu H, Tang N, Wang B. Smoking and the risk of age-related macular degeneration: a meta-analysis. Ann Epidemiol 2008;18: 647-656. (Pubitemid 352001387)
55. Taylor KE, Remmers EF, Lee AT, et al. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythemato-sus. PLoS Genet 2008;4:e1000084.
56. Costenbader KH, Kim DJ, Peerzada J, et al. Cigarette smoking and the risk of systemic lupus erythematosus: a meta-analysis. Arthritis Rheum 2004;50: 849-857. (Pubitemid 38326185)
57. Paling J. Strategies to help patients understand risks. BMJ 2003;327:745-748. (Pubitemid 37176764)
58. Bernhardt BGS, Griffin G, Pyeritz R, Wawak L, Zayac C, Gordon E. It's not like judgment day: public understanding of and reactions to personalized genomic risk information. Paper presented at American Society for Human Genetics Annual Meeting, Washington, DC, 2010.
59. 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.
60. Wade CH, McBride CM, Kardia SL, Brody LC. Considerations for designing a prototype genetic test for use in translational research. Public Health Genomics 2010;13:155-165.
61. McBride CM, Alford SH, Reid RJ, Larson EB, Baxevanis AD, Brody LC. Characteristics of users of online personalized genomic risk assessments: implications for physician-patient interactions. Genet Med 2009;11:582-587.
62. Cupples LA, Farrer LA, Sadovnick AD, Relkin N, Whitehouse P, Green RC. Estimating risk curves for first-degree relatives of patients with Alzheimer's disease: the REVEAL study. Genet Med 2004;6:192-196. (Pubitemid 39005858)
63. Biesecker LG, Mullikin JC, Facio FM, et al. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 2009;19:1665-1674.
64. Moxey A, O'Connell D, McGettigan P, Henry D. Describing treatment effects to patients. J Gen Intern Med 2003;18:948-959.
65. Malenka DJ, Baron JA, Johansen S, Wahrenberger JW, Ross JM. The framing effect of relative and absolute risk. J Gen Intern Med 1993;8:543-548. (Pubitemid 23312931)
66. Carling CL, Kristoffersen DT, Montori VM, et al. The effect of alternative summary statistics for communicating risk reduction on decisions about taking statins: a randomized trial. PLoS Med 2009;6:e1000134.