The business value and cost-effectiveness of genomic medicine

Personalized Medicine

Volumn 9, Issue 3, 2012, Pages 265-286

  Crawford, James M ^a   Aspinall, Mara G ^b  

^a DONALD AND BARBARA ZUCKER SCHOOL OF MEDICINE AT HOFSTRA NORTHWELL   (United States)

^b F HOFFMANN LA ROCHE LTD   (Switzerland)

Author keywords

CPT codes; diagnostics; ICD 9 codes; laboratory developed tests; payment; personalized medicine; pharmacogenomics; relative value units; stacked codes; whole genome sequencing

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CYTOCHROME P450 2C9; CYTOKERATIN; DESMIN; DNA; GLIAL FIBRILLARY ACIDIC PROTEIN; VIMENTIN;

ALGORITHM; CODING; COMPARATIVE GENOMIC HYBRIDIZATION; CONSUMER ATTITUDE; COST EFFECTIVENESS ANALYSIS; CYTOGENETICS; DNA SEQUENCE; DRUG EFFICACY; DRUG TOXICITY; FOOD AND DRUG ADMINISTRATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOMIC MEDICINE; GENOMICS; HEALTH CARE COST; HEALTH CARE POLICY; HEALTH ECONOMICS; HEALTH INSURANCE; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; KARYOTYPING; LABORATORY TEST; MEDICAL SOCIETY; MEDICARE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; OUTCOME ASSESSMENT; PHARMACOGENOMICS; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

EID: 84860724939     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.12.23     Document Type: Review

References (76)

1. Patlak M, Levit L. Policy issues in development of personalized medicine in oncology. Workshop summary. Institute of Medicine of the National Academies. The National Academies Press, Washington, DC, USA (2010).
2. Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature 470, 204-213 (2011).
3. Muthappen V, Lee AY, Lamprecht TL et al. Biome representational in silico karyotyping. Genome. Res. 21, 626-633 (2011).
4. Schuler GD, Boguski MS, Steward EA et al. A gene map of the human genome. Science 274, 540-546 (1996). (Pubitemid 26360428)
5. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921 (2001). (Pubitemid 32165345)
6. Venter JC, Adams MD, Myers EW. The sequence of the human genome. Science 291, 1304-1351 (2001). (Pubitemid 32173090)
7. Ginsberg D. Genetics and genomics to the clinic: a long road ahead. Cell 147, 17-19 (2011).
8. Kiyotani K, Uno S, Mushiroda T et al. A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy. Pharmacogenet. Genomics 22(4), 229-235 (2012).
9. Fernandez-Rozadilla C, Cazier JB, Moreno V et al. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J. doi:10.1038/tpj.2012.2 (2012) (Epub ahead of print).
10. Breckenridge RL. Pathology practice under TEFRA and DRGs. Pathologist 37, 560-562 (1983).
11. Hsiao WC, Braun P, Dunn D, Becker ER.Resource-based relative values. An overview. JAMA 260(16), 2347-2353 (1988).
12. Hinman L, Carl KM, Spear BB et al. Development and regulatory strategies for drug and diagnostic co-development. Pharmacogenomics 11, 1669-1675 (2010).
13. Parkinson DR, Johnson BE, Sledge GW. Making personalized cancer medicine a reality: challenges and opportunities in the development of biomarkers and companion diagnostics. Clin. Cancer Res. 18, 619-624 (2012).
14. Cuisset T, Morange PE, Alessi MC. Recent advances in the pharmacogenetics of clopidogrel. Hum. Genet. doi:10.1007/ s00439-011-1130-6 (2011) (Epub ahead of print).
15. Marin-Leblanc M, Perreault S, Bahroun I et al. Validation of warfarin pharmacogenetic algorithms in clinical practice. Pharmacogenomics 13, 21-29 (2012).
16. Schmidt C. Challenges ahead for companion diagnostics. J. Natl Cancer Inst. 104(1), 14-15 (2012).
17. Schena M, Shalon D, Heller R, Chai A, Brown PO, Davis RW. Parallel human genome analysis: microarray-based expression of 1000 genes. Proc. Natl Acad. Sci. USA 93, 10614-10619 (1996). (Pubitemid 26333036)
18. Tang G, Shak S, Paik S et al. Comparison of the prognostic and predictive utilities of the 21-gene recurrence score assay and Adjuvant! for women with node-negative, ER-positive breast cancer: results from NSABP B-14 and NSABP B-20. Breast Cancer Res. Treat. 127, 133-142 (2011).
19. Hall PS, McCabe C, Stein RC, Cameron D. Economic evaluation of genomic test-directed chemotherapy for early-stage lymph node-positive breast cancer. J. Natl Cancer Inst. 104, 1-11 (2012
20. Abel HJ, Duncavage EJ, Becker N, Armstrong JR, Magrini VJ, Pfeifer JD. SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted nextgeneration sequence data. Bioinformatics 26, 2684-2688 (2010
21. Jones SJM, Laskin J, Li YY et al. Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors. Genome Biol. 11(8), R82 (2010
22. Dimmock DP, Trapane P, Feigebaum A et al. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am. J. Med. Genet. 146A (22), 2885-2890 (2008
23. Flemming W. Beitrage zur Kenntniss der Zelle und ihrer Lebenserscheinungen, III. Arch. Mikr. Anat. 20, 1-86 (1882
24. European Cytogeneticists Association. Permanent working group for cytogenetics and society. Cytogenetic guidelines and quality assurance. A common European framework for quality assurance for constitutional and acquired cytogenetic investigations. ECA Newslett. 16, 13-32 (2006
25. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Op. Genet. Dev. 17, 182-192 (2007 (Pubitemid 46843553)
26. Trakadis Y, Shevell M. Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis. Dev. Med. Child Neurol. 53, 994-999 (2011
27. Lynch SA. What price a diagnosis? Dev. Med. Child Neurol. 53, 971 (2011
28. Crawford JM. Original research in pathology: judgement or evidence-based medicine? Lab. Invest. 87, 104-114 (2007
29. Preusser M, Wöhrer A, Stary S, Höftberger R, Streubel B, Hainfellner JA. Value and limitations of immunohistochemistry and gene sequencing for detection of the IDH1-R132H mutation in diffuse glioma biopsy specimens. J. Neuropathol. Exp. Neurol. 70, 715-723 (2011
30. Tan DS, Iravani M, McCluggage WG et al. Genomic analysis reveals the molecular heterogeneity of ovarian clear cell carcinomas. Clin. Cancer Res. 17, 1521-1534 (2011
31. Murphy WM. Ethical issues in anatomic pathology: are we going the way of the financial sector? Am. J. Surg. Pathol. 27, 392-395 (2003 (Pubitemid 36245805)
32. Renshaw A. Ethical issues in anatomic pathology. Am. J. Surg. Pathol. 27, 1173-1174 (2003
33. Worthey EA, Mayer AN, Syverson GD et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13, 255-262 (2011
34. Mayer AN, Dimmock DP, Arca MJ et al. A timely arrival for genomic medicine. Genet. Med. 13, 195-196 (2011
35. Voelkerding KV, Dames S, Durtschi JD. Next generation sequencing for clinical diagnostics - principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J. Mol. Diagn. 12, 539-551 (2010
36. Ross JS, Cronin M. Whole cancer genome sequencing by next-generation methods. Am. J. Clin. Pathol. 136, 527-539 (2011
37. Welch JS, Westervelt P, Ding L et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. J. Am. Med. Assoc. 305, 1577-1584 (2011
38. Pelletier KR, Herman PM, Metz RD, Nelson CF. Health and medical economics applied to integrative medicine. Explore 6, 86-99 (2010
39. Chandras C, Weaver T, Zouberakis M et al. Models for financial sustainability of biological databases and resources. Database (Oxford) 2009, bap017 (2009
40. Trosman JR, Van Bebber SL, Phillips KA. Health technology assessment and private payers' coverage of personalized medicine. J. Oncol. Pract. 7, S18-S24 (2011
41. Kato K. Algorithm for in vitro diagnostic multivariate index assay. Breast Cancer 16, 248-251 (2009
42. Zhang Z, Chan DW. The road from discovery to clinical diagnostics: lessons learned from the first FDA-cleared in vitro diagnostic multivariate index assay of proteomic markers. Cancer Epidemiol. Biomarkers Prev. 19, 2995-2999 (2010
43. Kahvejian A, Quackenbush J, Thompson JF. What would you do if you could sequence everything? Nat. Biotechnol. 26, 1125-1133 (2008
44. Tonellato PJ, Crawford JM, Boguski MS, Saffritz JE. A national agenda for the future of pathology in personalized medicine: report of the proceedings of a meeting at the Banbury Conference Center on Genome-Era Pathology, Precision Diagnostics, and Preemptive Care: A Stake-holder Summit. Am. J. Clin. Pathol. 135, 668-672 (2011
45. Tweardy DJ, Belmont JW. 'Personalizing' academic medicine: opportunities and challenges in implementing genomic profiling. Transl. Res. 154, 288-294 (2009
46. Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet 375, 1525-1535 (2010
47. Burger IM, Kass ND. Screening in the dark: ethical considerations of providing screening tests to individuals when evidence is insufficient to support screening populations. Am. J. Bioeth. 9, 3-14 (2009
48. Rogers J, Carolin T, Vaught J, Compton C. Biobankonomics: a taxonomy for evaluating the economic benefits of standardized centralized human biobanking for translational research. J. Natl Cancer Inst. Monogr. 42, 32-38 (2011
49. Polyak K. Heterogeneity in breast cancer. J. Natl Cancer Inst. 121, 3786-3788 (2011
50. Beyer RP, Fry RC, Lasarev MR et al. Multicenter study of acetaminophen hepatotoxicity reveals the importance of biological endpoints in genomic analyses. Toxicol. Sci. 99, 326-337 (2007 (Pubitemid 47250389)
51. He SM, Zhou ZW, Li XT, Zhou SF. Clinical drugs undergoing polymorphic metabolism by human cytochrome P45 2C9 and the implication in drug development. Curr. Med. Chem. 18, 667-713 (2011
52. Polifka JE, Friedman JM. Medical genetics: 1. Clinical teratology in the age of genomics. Can. Med. Assoc. J. 167, 265-273 (2002 (Pubitemid 34920565)
53. Prows CA, Saldaña SN. Nurses' genetic/ genomics competencies when medication therapy is guided by pharmacogenomic testing: children with mental health disorders as an examplar. J. Ped. Nurs. 24, 179-188 (2009
54. Witte DL. Measuring outcomes: why now? Clin. Chem. 41, 775-780 (1995
55. Armao D, Semelka RC, Elias J. Radiology's ethical responsibility for healthcare reform: Tempering the overutilization of medical imaging and trimming down a heavyweight. J. Magnet. Res. Imaging 35, 512-517 (2012
56. Bradley WG Jr. MR-guided focused ultrasound: A potentially disruptive technology. J. Am. Coll. Radiol. 6, 510-513 (2009
57. Ussui VM, Wallace MB. Confocal endomicroscopy of colorectal polyps. Gastroenterol. Res. Pract. 2012, 545679 (2012
58. Schuman JS, Hee MR, Arva AV et al. Optical coherence tomography: a new tool for glaucoma diagnosis. Curr. Opin. Ophthalmol. 6, 89-95 (1995
59. Liu JT, Loewke NO, Mandella MJ, Levenson RM, Crawford JM, Contag CH. Point-of-care pathology with miniature microscopes. Anal. Cell Pathol. (Amst.) 34, 81-98 (2011
60. Bennett ST, Barnes C, Cox A, Davies L, Brown C. Toward the 1,000 dollars human genome. Pharmacogenomics 6, 373-382 (2005 (Pubitemid 40916360)
61. Tiechler Zallen D. To Test or Not to Test: a Guide to Genetic Screening and Risk. Rutgers University Press, NJ, USA (2008
62. Eng C, Sharp RR. Bioethical and clinical dilemmas of direct-to-consumer personal genomic testing: the problem of misattributed equivalence. Sci. Transl. Med. 2(17), 17cm5 (2010
63. Drmanac R. The advent of personal genome sequencing. Genet. Med. 13, 188-190 (2011
64. Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. N. Eng. J. Med. 364, 524-545 (2011
65. Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature 461, 724-726 (2009
66. Lunshof JE, Chadwick R, Vorhaus DB, Church GM. From genetic privacy to open consent. Nat. Rev. Genet. 9, 406-411 (2008 (Pubitemid 351556065)
67. Ormond KE, Wheeler MT, Hudgins L et al. Challenges in the clinical application of whole-genome sequencing. Lancet 375, 1749-1751 (2010
68. Knoppers BM. Consent to 'personal' genomics and privacy. EMBO Rep. 11, 416-419 (2010
69. Kohane IS, Taylor PL. Multidimensional results reporting to participants in genomic studies: getting it right. Sci. Transl. Med. 2(37) 37cm19 (2010
70. Marshall JM Jr. Localization of adrenocorticotropic hormone by histochemical and immunochemical methods. J. Exp. Med. 94, 21-30 (1951
71. Pressman D. Certain aspects of tissue-specific antigens. Proc. Can. Cancer Conf. 5, 363-376 (1963
72. Koulischer L, Zanen J. Cytogenetic study of a mother and her son presenting the same ocular malformation. Bull. Soc. Belge. Ophtalmol. 138, 602-611 (1964
73. Boone C, Chen TR, Ruddle FH. Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11, E-17, and F-20 chromosomes). Proc. Natl Acad. Sci. USA 69, 510-514 (1972
74. Salser W, Bowen S, Browne D et al. Investigation of the organization of mammalian chromosomes at the DNA sequence level. Fed. Proc. 35, 23-35 (1976
75. Papadopoulos N, Kinzler KW, Vogelstein B. The role of companion diagnostics in the development and use of mutation-targeted cancer therapies. Nat. Biotechnol. 24, 985-995 (2006 (Pubitemid 44215393)
76. Lupski JR, Reid JH, Gonzaga-Jauregui C et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Eng. J. Med. 362, 1181-1191 (2010)