Translational Genomics: From Discovery to Clinical Practice

Genomic and Personalized Medicine, Two-Vol Set

Volumn , Issue , 2009, Pages 242-251

  Ginsburg, Geoffrey S ^a  

^a DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84884738117     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-369420-1.00022-6     Document Type: Chapter

References (91)

1. Apse K., Biesecker B., Giardiello F., Fuller B., Bernhardt B. Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients. Gene Med 2004, 6:510-516.
2. Bare L., Morrison A., Rowland C., Shiffman D., Luke M., Iakoubova O., Kane J., Malloy M., Ellis S., Pankow J., et al. Five common gene variants identify elevated genetic risk for coronary heart disease. Genet Med 2007, (10):682-689.
3. Bethke L., Sullivan K., Webb E., Murray A., Schoemaker M., Auvinen A., Kiuru A., Salminen T., Johansen C., Christensen H.C., et al. The common D302H variant of CASP8 is associated with risk of glioma. Cancer Epidemiol Biomarkers Prev 2008, 17(4):987-989.
4. Bullinger L., Valk P. Gene expression profiling in acute myeloid leukemia. J Clin Oncol 2005, 23(26):6296-6305.
5. Caprioli R. Deciphering protein molecular signatures in cancer tissues to aid in diagnosis, prognosis, and therapy. Cancer Res 2005, 65(23):10642-10645.
6. Carlson J., Henrikson N., Veenstra D., Ramsey S. Economic analyses of human genetics services: A systematic review. Genet Med 2005, 7(8):519-523.
7. Cox A., Dunning A., Garcia-Closas M., Balasubramanian S., Reed M., Pooley K., Scollen S., Baynes C., Ponder B., Chanock S., et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet 2007, 39(3).
8. Dave S., Fu K., Wright G., Lam L., Kluin P., Boerma E., Greiner T., Weisenburger D., Rosenwald A., Ott G., et al. Lymphoma/leukemia molecular profiling project. Molecular diagnosis of Burkitt's lymphoma. N Engl J Med 2006, 354(23):2431-2442.
9. Douglas, P., Ginsburg, G. (2008). Clinical genomic testing: Getting it right. J Cardiovasc Translational Res 1(1), 17-20.
10. Downing G.J. Biomarkers and Surrogate Endpoints: Clinical Research and Applications 2000, Elsevier, New York.
11. Easton D.F., Pooley K.A., Dunning A.M., Pharoah P.D., Thompson D., Ballinger D.G., Struewing J.P., Morrison J., Field H., Luben R., et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447(7148):1087-1093.
12. EGAPP (2004) http://www.egappreviews.org/about.htm.
13. Eichelbaum M., Ingelman-Sundberg M., Evans W. Pharmacogenomics and individualized drug therapy. Annu Rev Med 2006, 57:119-137.
14. Feero W., Guttmacher A., Collins F. The genome gets personal-almost. J Am Med Assoc 2008, 299(11):1351-1352.
15. Fellay J., Shianna K.V., Ge D., Colombo S., Ledergerber B., Weale M., Zhang K., Gumbs C., Castagna A., Cossarizza A., et al. A whole-genome association study of major determinants for host control of HIV-1. Science 2007, 317(5840):944-947.
16. Flowers R., Veenstra D. The role of cost-effectiveness analysis in the era of pharmacogenomics. Pharmacoeconomics 2004, 22(8):481-493.
17. Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W., et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007, 316(5826):889-894.
18. Frueh F., Goodsaid F., Rudman A., Huang S., Lesko L. The need for education in pharmacogenomics: A regulatory perspective. Pharmacogenomics Journal 2005, 5(4):218-220.
19. Frueh F.W., Gurwitz D. From pharmacogenetics to personalized medicine: A vital need for educating health professionals and the community. Pharmacogenomics 2004, 5:571-579.
20. Gelmann E.P. Complexities of prostate cancer risk. N Engl J Med 2008, 258(9):961-963.
21. Ginsburg G., Burke T., Febbo P. Centralized biorepositories for genetic and genomic research. J Am Med Assoc 2008, 299(11):1359-1361.
22. Ginsburg G.S., McCarthy J.J. Personalized medicine: Revolutionizing drug discovery and patient care. Trends Biotechnol 2001, 19(12):491-496.
23. Ginsburg G.S., Konstance R.P., Allsbrook J.S., Schulman K.A. Implications of pharmacogenomics for drug development and clinical practice. Arch Intern Med 2005, 165(20):2331-2336.
24. Glazier A., Nadeau J., Aitman T. Finding genes that underlie complex traits. Science 2002, 298(5602):2345-2349.
25. Goodsaid F., Frueh F., Mattes W. Strategic paths for biomarker qualification. Toxicology 2008, 245(3):219-223.
26. Graham I.D., Logan J., Harrison M.B., Straus S.E., Tetroe J., Caswell W., Robinson N. Lost in knowledge translation: Time for a map?. Journal of Continuing Education in the Health Professions 2006, 26:13-24.
27. Gregory S.G., Schmidt S., Seth P., Oksenberg J.R., Hart J., Prokop A., Caillier S.J., Ban M., Goris A., Barcellos L.F., et al. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 2007, 39(9):1083-1091.
28. Gudbjartsson D.F., Arnar D.O., Helgadottir A., Gretarsdottir S., Holm H., Sigurdsson A., Jonasdottir A., Baker A., Thorleifsson G., Kristjansson K., et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007, 448(7151):353-357.
29. Gudmundsson J., Sulem P., Manolescu A., et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007, 39:631-637.
30. Gudmundsson J., Sulem P., Steinthorsdottir V., Bergthorsson J.T., Thorleifsson G., Manolescu A., Rafnar T., Gudbjartsson D., Agnarsson B.A., Baker A., et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007, 39(8):977-983.
31. Gurwitz D., Weizman A., Rehavi M. Education: Teaching pharmacogenomics to prepare future physicians and researchers for personalized medicine. Trends Pharmacol Sci 2003, 24:122-125.
32. Hall M., McEwen J., Barton J., Walker A., Howe E., Reis J., Power T., Ellis S., Tucker D., Harrison B., et al. Concerns in a primary care population about genetic discrimination by insurers. Genet Med 2005, 7:311-316.
33. Haga S., Willard H. Defining the spectrum of genome policy. Nature 2006, 7:966-972.
34. Hanauer D., Rhodes D., Sinha-Kumar C., Chinnaiyan A. Bioinformatics approaches in the study of cancer. Curr Mol Med 2007, 7(1):133-141.
35. Helgadotti A., Thorleifsson G., Manolescu A., Gretarsdottir S., Blondal T., Jonasdottir A., Sigurdsson A., Baker A., Palsson A., Masson G., et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science 2007, 316(5830):1491-1493.
36. st IQPC translational research conference. Journal of Translational Medicine 2004, 2:44-51.
37. Horig H., Marincola E., Marincola F. Obstacles and opportunities in translational research. Nat Med 2005, 11(7):705-708.
38. Humes H. Translational medicine and the National Institutes of Health road map: Steep grades and tortuous curves. J Lab Clin Med 2005, 146:51-54.
39. Hunter D., Khoury M., Drazen J. Letting the genome out of the bottle - will we get our wish?. N Engl J Med 2008, 358(2):105-107.
40. Hunter D.J., Kraft P., Jacobs K.B., Cox D.G., Yeager M., Hankinson S.E., Wacholder S., Wang Z., Welch R., Hutchinson A., et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007, 39(7):870-874.
41. IOM (2007). http://www.iom.edu/CMS/3740/44443.aspx.
42. Janssens A., Gwinn M., Bradley L., Oostra B., van Duijn C., Khoury M. 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(3):593-599.
43. Khoury M., Gwinn M., Yoon P., Dowling N., Moore C., Bradley L. 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, (10):665-674.
44. Klein G. Standardization of health informatics - results and challenges. Meth Inform Med 2002, 41(4):261-270.
45. Klein R., Zeiss C., Chew E., Tsai J., Sackler R., Haynes C., Henning A., SanGiovanni J., Mane S., Mayne S., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
46. Lowe C.E., Cooper J.D., Brusko T., Walker N.M., Smyth D.J., Bailey R., Bourget K., Plagnol V., Field S., Atkinson M., et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007, 39(9):1074-1082.
47. Lynch T., Bell D., Sordella R., Gurubhagavatula S., Okimoto R., Brannigan B., Harris P., Haserlat S., Supko J., Haluska F., et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004, 350(21):2129-2139.
48. Ma X., Zabriskie N.A., Hau V.S., Chen H., Tong Z., Yang X., Gibbs D., Katz B.J., Luo L., Pearson E., et al. Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort. Cell Cycle 2007, 7(4).
49. Marcom P.K., Anders C.K., Ginsburg G.S., Nevins J.R., Potti A. Utilization of genomic signatures for personalized treatment of breast cancer. In: "Pharmacogenetics of Breast Cancer", B. Leyland-Jones, ed., Macmillan Publishing Solutions 2008, 6. (in press).
50. Marincola F. Translational medicine: A two-way road. Journal of Translational Medicine 2003, 1:1-2.
51. McGuire A., Cho M., McGuire S., Caulfield T. Free in PMC medicine. The future of personal genomics. Science 2007, 317(5845):1687.
52. McPherson R., Pertsemlidis A., Kavaslar N., Stewart A., Roberts R., Cox D.R., Hinds D.A., Pennacchio L.A., Tybjaerg-Hansen A., Folsom A.R., et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007, 316(5830):1488-1491.
53. Metcalfe S., Hurworth R., Newstead J., Robins R. Needs assessment study of genetics education for general practitioners in Australia. Genet Med 2002, 4:71-77.
54. Moffatt M.F., Kabesch M., Liang L., Dixon A.L., Strachan D., Heath S., Depner M., von Berg A., Bufe A., Rietschel E., et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007, 448(7152):470-473.
55. NIH (2007). http://www.ncrr.nih.gov/clinical_research_resources/clinical_and_transla tional_science_awards/.
56. Ordovas J., Corella D. Nutritional genomics. Annu Rev Genom Hum Genet 2004, 5:71-118.
57. Parkes M., Barrett J.C., Prescott N.J., Tremelling M., Anderson C.A., Fisher S.A., Roberts R.G., Nimmo E.R., Cummings F.R., Soars D., et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007, 39(7):830-832.
58. Personalized Medicine (2007). tracking/110/senate_bills/session1/s-976.asp http://www.olpa.od.nih.gov/.
59. Plenge R., Seielstad M., Padyukov L., Lee A., Remmers E., Ding B., Liew A., Khalili H., Chandrasekaran A., Davies L., et al. TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med 2007, 357(12):1199-1209.
60. Potti A., Mukherjee S., Petersen R., Dress A.H., Bild A., Koontz J., Kratzke R., Watson M., Kelley M., Ginsburg G., et al. A genomic strategy to refine prognosis in early-stage non-small-cell lung cancer. N Engl J Med 2006, 355(6):570-580.
61. Remmers E.F., Plenge R.M., Lee A.T., Graham R.R., Hom G., Behrens T.W., de Bakker P.I., Le J.M., Lee H.S., Batliwalla F., et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007, 357(10):977-986.
62. Rioux J., Xavier R., Taylor K., Silverberg M., Goyette P., Huett A., Green T., Kubolla P., Barmada M., Datta L., et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007, 39:596.
63. Samani N.J., Erdmann J., Hall A.S., Hengstenberg C., Mangino M., Mayer B., Dixon R.J., Meitinger T., Braund P., Wichmann H.E., et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007, 357(5):443-453.
64. Sandhu M.S., Weedon M.N., Fawcett K.A., Wasson J., Debenham S.L., Daly A., Lango H., Frayling T.M., Neumann R.J., Sherva R., et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007, 39(8):951-953.
65. Saxena R., Voight B., Lyssenko V., Burtt N., Bakker N., Chen H., Roix J., Kathiresan S., Hirschhorn J., Daly M., et al. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University and Novartis Institutes for BioMedical Research, Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007, 316:1331-1336.
66. Scheuner M., Sieverding P., Shekelle P. Delivery of genomic medicine for common chronic adult diseases: A systematic review. J Am Med Assoc 2008, 299(11):1320-1334.
67. Scott L.J., Mohlke K.L., Bonnycastle L.L. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007, 316(11):1341-1345.
68. Secretary's Advisory Committee on Genetics, Health, and Society (2007). Draft Report On US System of Oversight of Genetic Testing.
69. Seo D., Ginsburg G. Genomic medicine: Bringing biomarkers to clinical medicine. Curr Opin Chem Biol 2005, (4):381-386.
70. Sklar P., Smoller J.W., Fan J., Ferreira M.A., Perlis R.H., Chambert K., Nimgaonkar V.L., McQueen M.B., Faraone S.V., Kirby A., et al. Whole-genome association study of bipolar disorder. Mol Psychiatr 2008, 6. March 4 [Epub ahead of print].
71. Sladek R., Rocheleau G., Rung J., Dina C., Shen L., Serre D., Boutin P., Vincent D., Belisle A., Hadjadj S., et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007, 445:881.
72. Snyderman R., Williams R.S. Prospective medicine: The next health care transformation. Acad Med 2003, 78(11):1079-1084.
73. Snyderman R., Yoediono Z. Prospective care: A personalized, preventative approach to medicine. Pharmacogenomics 2006, 7(1):5-9.
74. Sonntag K. Implementations of translational medicine. Journal of Translational Medicine 2005, 3:33-35.
75. Stallings S., Witt W., Finkelstein S., Hiller A., Sinskey A., Ginsburg G. A framework to evaluate the economic impact of pharmacogenomics. Pharmacogenomics 2006, 7:853-862.
76. Staudt L. Molecular diagnosis of the hematologic cancers. N Engl J Med 2003, 348(18):1777-1785.
77. Steinthorsdottir V., Thorleifsson G., Reynisdottir I., Benediktsson R., Jonsdottir T., Walters G., Styrkarsdottir U., Gretarsdottir S., Emilsson V., Ghosh S., et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 2007, 39:770-775.
78. Stoughton R.B., Friend S.H. How molecular profiling could revolutionize drug discovery. Nat Rev Drug Discov 2005, 4(4):345-350.
79. Sung N., Crowley W., Genel M., Salber P., Sandy L., Sherwood L., Johnson S., Catanese V., Tilson H., Getz K., et al. Central challenges facing the national clinical research enterprise. J Am Med Assoc 2003, 289(10):1278-1287.
80. Tenesa A., Farrington S.M., Prendergast J.G., Porteous M.E., Walker M., Haq N., Barnetson R.A., Theodoratou E., Cetnarskyj R., Cartwright N., et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008, 40(5). 2008 March 30; [Epub ahead of print].
81. Topol E., Murray S., Frazer K. The genomics gold rush. J Am Med Assoc 2007, 298(2):218-221.
82. van Heel D.A., Franke L., Hunt K.A., Gwilliam R., Zhernakova A., Inouye M., Wapenaar M.C., Barnardo M.C., Bethel G., Holmes G.K., et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 2007, 39(7):827-829.
83. West M., Ginsburg G., Huang A., Nevins J. Embracing the complexity of genomic data for personalized medicine. Genome Res 2006, (5):559-566.
84. Westfall J., Mold J., Fagnan L. Practice-based research - "Blue Highways" on the NIH roadmap. J Am Med Assoc 2007, 297(4):403-406.
85. Wilkins-Haug L., Hill L., Power M., Holzman G., Schulkin J. Gynecologists' training, knowledge, and experiences in genetics: A survey. Obstet Gynecol 2000, 95:421-424.
86. Willard H., Angrist M., Ginsburg G. Genomic medicine: Genetic variation and its impact on the future of health care. Phil Trans Roy Soc Lond B Biol Sci 2005, 360(1460):1543-1550.
87. Wohlsen, M. (2008). s/ap/20080331/ap_on_hi_te/trolling_for_genes_startups http://www.news.yahoo.com/.
88. Yates J.R., Sepp T., Matharu B.K., Khan J.C., Thurlby D.A., Shahid H., Clayton D.G., Hayward C., Morgan J., Wright A.F., et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 2007, 357(6):553-561.
89. Zeggini E., Weedon M., Lindgren C., Frayling T., Elliot K., Lango H., Timpson N., Perry J., Raynor N., Freathy R., et al. Replication of genome-wide association signals in UK. Samples reveals risk loci for type 2 diabetes. Science 2007, 316:1336-1341.
90. Zeggini E., Scott L., Saxena R., Voight B., Marchini J., Hu T., de Bakker P.I., Abecasis G., Almgren P., Andersen G., et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008, 6.
91. Zheng S., Sun J., Wiklund F., Smith S., Stattin P., Li G., Adami H., Hsu F., Zhu Y., Bälter K., et al. Cumulative association of five genetic variants with prostate cancer. New Engl J Med 2008, 358(9):910-919.