Prioritizing genomic applications for action by level of evidence: A horizon-scanning method

Clinical Pharmacology and Therapeutics

Volumn 95, Issue 4, 2014, Pages 394-402

  Dotson, W D ^a   Douglas, M P ^a,b   Kolor, K ^a   Stewart, A C ^a,b   Bowen, M S ^a   Gwinn, M ^a,b   Wulf, A ^a,c   Anders, H M ^a,b   Chang, C Q ^d   Clyne, M ^d,e   Lam, T K ^d   Schully, S D ^d   Marrone, M ^f   Feero, W G ^g   Khoury, M J ^a,d  

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

^b McKing Consulting Corporation   (United States)

^c Cadence Group   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e Kelly Services   (United States)

^f JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^g Maine Dartmouth Family Practice Residency   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CETUXIMAB; CYTOCHROME P450 2C19; CYTOCHROME P450 2D6; MERCAPTOPURINE; PAROXETINE; SEROTONIN UPTAKE INHIBITOR; TIOGUANINE; WARFARIN;

BONE MARROW SUPPRESSION; CLASSIFICATION; CLINICAL DECISION MAKING; CLINICAL PRACTICE; CONSENSUS; DIAGNOSTIC TEST; ENZYME INHIBITION; EVIDENCE BASED MEDICINE; FOOD AND DRUG ADMINISTRATION; GENE MUTATION; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPE; HEALTH CARE POLICY; HUMAN; MEDICAL GENETICS; PHARMACOGENETICS; PHARMACOGENOMICS; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW;

DECISION MAKING; GENETIC TESTING; GENOMICS; HUMAN GENOME PROJECT; HUMANS; PHARMACOGENETICS;

EID: 84896628886     PISSN: 00099236     EISSN: 15326535     Source Type: Journal    
DOI: 10.1038/clpt.2013.226     Document Type: Review

References (75)

1. Manolio, T.A & Green, E.D. Genomics reaches the clinic: From basic discoveries to clinical impact. Cell 147, 14-16 (2011.
2. Wei, Y., Xu, F. & Li, P. Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation. J. Genet. Genomics 40, 1-14 (2013.
3. Evans, J.P., Meslin, E.M., Marteau, T.M & Caulfield, T. Genomics. Deflating the genomic bubble. Science 331, 861-862 (2011.
4. Khoury, M.J., Berg, A., Coates, R., Evans, J., Teutsch, S.M. & Bradley, L.A. The evidence dilemma in genomic medicine. Health Aff. (Millwood). 27, 1600-1611 (2008.
5. Petitti, D.B., Teutsch, S.M., Barton, M.B., Sawaya, G.F., Ockene, J.K. & 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. 150, 199-205 (2009.
6. Khoury, M.J., Coates, R.J. & Evans, J.P. Evidence-based classification of recommendations on use of genomic tests in clinical practice: Dealing with insufficient evidence. Genet. Med. 12, 680-683 (2010.
7. Centers for Disease Control and Prevention Office of Public Health Genomics. Genomic tests and family history by levels of evidence. http://www.cdc.gov/ genomics/gtesting/tier.htm. Accessed 14 June 2013.
8. Teutsch, S.M. et al.; EGAPP Working Group. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group. Genet. Med. 11, 3-14 (2009.
9. Haddow, J.E., Palomaki, G.E An introduction to assessing genomic screening and diagnostic tests. Nutrition Today 46, 162-168 (2011.
10. Gwinn, M. et al. Horizon scanning for new genomic tests. Genet. Med. 13, 161-165 (2011.
11. US Preventive Services Task Force http://www. uspreventiveservicestaskforce.org/. Accessed 14 July 2013.
12. American College of Medical Genetics and Genomics http://www.acmg. net/AM/Template.cfm?Section=Home3. Accessed 14 July 2013.
13. Kost, G.J. National guideline clearinghouse. URL: Www.guideline.gov/ index. asp. Clin. Chem. 46, 141-142 (2000.
14. Rubinstein, W.S. et al. The NIH genetic testing registry: A new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Nucleic Acids Res. 41, D925-D935 (2013.
15. Whirl-Carillo, M. et al. Pharmacogenomics knowledge for personalized medicine Clin. Pharmacol. Ther. 92, 414-417 (2012.
16. Glover, J. Searching for the evidence using PubMed. Med. Ref. Serv. Q. 21, 57-65 (2002.
17. US Food and Drug Administration. Table of pharmacogenomic biomarkers in drug labels. http://www.fda.gov/drugs/scienceresearch/researchareas/ pharmacogenetics/ucm083378.htm. Accessed 14 June 2013.
18. US Food and Drug Administration. 510(k) Premarket Notification Database. http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfpmn/pmn.cfm. Accessed 24 July 2013.
19. Centers for Medicare & Medicaid Services. Medicare Coverage Database. http://www.cms.gov/medicare-coverage-database/. Accessed 24 July 2013.
20. Agarwal, ADo companion diagnostics make economic sense for drug developers? N. Biotechnol. 29, 695-708 (2012.
21. US Food and Drug Administration. Companion diagnostic devices: In vitro and imaging tools. http://www.fda.gov/MedicalDevices/ ProductsandMedicalProcedures/InVitroDiagnostics/ucm301431.htm. Accessed 14 June 2013.
22. IOM Roundtable on Evidence-Based Medicine. In The Learning Healthcare System: Workshop Summary (eds. Olsen, L.A., Aisner, D. & McGinnis, J.M.) (Institute of Medicine of the National Academies, Washington, DC, 2007.
23. Relling, M.V. & Klein, T.E. CPIC: Clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin. Pharmacol. Ther. 89, 464-467 (2011.
24. Swen, J.J. et al. Pharmacogenetics: From bench to byte-An update of guidelines. Clin. Pharmacol. Ther. 89, 662-673 (2011.
25. Swen, J.J. et al. Pharmacogenetics: From bench to byte. Clin. Pharmacol. Ther. 83, 781-787 (2008.
26. Scott, S.A. Personalizing medicine with clinical pharmacogenetics. Genet. Med. 13, 987-995 (2011.
27. Green, R.C. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565-574 (2013.
28. Goddard, K.A. et al. Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies. Genet. Med. 15, 721-728 (2013.
29. Blue Cross Blue Shield Association TEC KRAS mutations and epidermal growth factor receptor inhibitor therapy in metastatic colorectal cancer (2008.
30. Allegra, C.J. et al. American Society of Clinical Oncology provisional clinical opinion: Testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J. Clin. Oncol. 27, 2091-2096 (2009.
31. Febbo, P.G. et al. NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. J. Natl. Compr. Canc. Netw. 9(suppl. 5), S1-32; quiz S33 (2011.
32. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? Genet. Med. 15, 517-527 (2013.
33. US Food and Drug Administration Mercaptopurine Labeling Revision (05/27/2011). http://www.accessdata.fda.gov/drugsatfda-docs/ label/2011/009053s032lbl.pdf. Accessed 25 July 2013.
34. Relling, M.V. et al.; Clinical Pharmacogenetics Implementation Consortium Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin. Pharmacol. Ther. 89, 387-391 (2011.
35. Relling, M.V. et al. Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update. Clin. Pharmacol. Ther. 93, 324-325 (2013.
36. Flockhart, D.A. et al.; ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet. Med. 10, 139-150 (2008.
37. McClain, M.R., Palomaki, G.E., Piper, M. & Haddow, J.E. A rapid-ACCE review of CYP2C9 and VKORC1 alleles testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding. Genet. Med. 10, 89-98 (2008.
38. Centers for Medicare & Medicaid Services. National Coverage Determination (NCD) for Pharmacogenomic Testing for Warfarin Response (90.1) 2009. http://www.cms.gov/medicare-coverage-database/details/ncd-details. aspx?NCDId=333. Accessed 26 July 2013.
39. Johnson, J.A. et al.; Clinical Pharmacogenetics Implementation Consortium Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin. Pharmacol. Ther. 90, 625-629 (2011.
40. US Food and Drug Administration. Warfarin Labeling Revision (10/04/2011) 2011. http://www.accessdata.fda.gov/drugsatfda-docs/ label/2011/009218s107lbl. pdf.
41. US Food and Drug Administration. 510(k) Substantial Equivalence Determination, Decision Summary, 510(k) number: K042259.http://www.accessdata. fda.gov/cdrh-docs/reviews/K042259.pdf. Accessed 30 September 2013.
42. US Food and Drug Administrationrfsti Paroxetine Mesylate Labeling Revision (04/28/2011) 2011. http://www.accessdata.fda.gov/drugsatfda-docs/ label/2011/021299s024lbl.pdf.
43. Matchar, D.B. et al. Testing for cytochrome P450 polymorphisms in adults with non-psychotic depression treated with selective serotonin reuptake inhibitors (SSRIs). Evid. Rep. Technol. Assess. (Full. Rep.) 146, 1-77 (2007.
44. Thakur, M. et al. Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors. Genet. Med. 9, 826-835 (2007.
45. Evaluation of Genomic Applications in Practice and Prevention 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. 9, 819-825 (2007.
46. Steinberg, E.P & Luce, B.R. Evidence based? Caveat emptor! Health Aff. (Millwood). 24, 80-92 (2005.
47. Clinical Practice Guidelines We Can Trust (eds. Graham, R., Mancher, M., Wolman, D.M., Greenfield, S. & Steinberg, E.) (Institute of Medicine of the National Academies, Washington, DC, 2011.
48. Centers for Medicare & Medicaid Services. Medicare Evidence Development& Coverage Advisory Committee. http://www.cms.gov/Regulations- And-Guidance/Guidance/FACA/MEDCAC.html Accessed 25 July 2013.
49. Brouwers, M.C. et al.; AGREE Next Steps Consortium. Development of the AGREE II, part 1: Performance, usefulness and areas for improvement. CMAJ 182, 1045-1052 (2010.
50. Brouwers, M.C. et al.; AGREE Next Steps Consortium. Development of the AGREE II, part 2: Assessment of validity of items and tools to support application. CMAJ 182, E472-E478 (2010.
51. Simone, B., De Feo, E., Nicolotti, N., Ricciardi, W. & Boccia, S. Methodological quality of English-language genetic guidelines on hereditary breast-cancer screening and management: An evaluation using the AGREE instrument. BMC Med. 10, 143 (2012.
52. Gopalakrishna, G., Langendam, M.W., Scholten, R.J., Bossuyt, P.M. & Leeflang, M.M. Guidelines for guideline developers: A systematic review of grading systems for medical tests. Implement. Sci. 8, 78 (2013.
53. Altar, C.A., Hornberger, J., Shewade, A., Cruz, V., Garrison, J. & Mrazek, D. Clinical validity of cytochrome P450 metabolism and serotonin gene variants in psychiatric pharmacotherapy. Int. Rev. Psychiatry 25, 509-533 (2013.
54. Veenstra, D.L., Roth, J.A., Garrison, L.P. Jr, Ramsey, S.D. & Burke, W. A formal riskbenefit framework for genomic tests: Facilitating the appropriate translation of genomics into clinical practice. Genet. Med. 12, 686-693 (2010.
55. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 89. Elective and risk-reducing salpingo-oophorectomy. Obstet. Gynecol. 111, 231-241 (2008.
56. American College of Obstetricians and Gynecologists; ACOG Committee on Practice Bulletins-Gynecology; ACOG Committee on Genetics; Society of Gynecologic Oncologists. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. Obstet. Gynecol. 113, 957-966 (2009.
57. American College of Obstetricians and Gynecologists, Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: Screening for fetal chromosomal abnormalities. Obstet. Gynecol. 109, 217-227 (2007.
58. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 78: Hemoglobinopathies in pregnancy. Obstet. Gynecol. 109, 227-237 (2007.
59. Hickey, S.E., Curry, C.J. & Toriello, H.V. ACMG Practice Guideline: Lack of evidence for MTHFR polymorphism testing. Genet. Med. 15, 153-156 (2013.
60. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecañ Genet. Med. 11, 15-20 (2009.
61. Evaluation of Genomic Applications in Practice and Prevention 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. 11, 35-41 (2009.
62. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Can tumor gene expression profiling improve outcomes in patients with breast cancer? Genet. Med. 11, 66-73 (2009.
63. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Genomic profiling to assess cardiovascular risk to improve cardiovascular health. Genet. Med. 12, 839-843 (2010.
64. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Routine testing for Factor V Leiden (R506Q) and prothrombin (20210GA) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. Genet. Med. 13, 67-76 (2011.
65. Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: Does genomic profiling to assess type 2 diabetes risk improve health outcomes? Genet. Med. 15, 612-617 (2013.
66. Wierzbicki, A.S., Humphries, S.E. & Minhas, R.; Guideline Development Group. Familial hypercholesterolaemia: Summary of NICE guidance. BMJ 337, a1095 (2008.
67. US Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Ann. Intern. Med. 143, 355-361 (2005.
68. Hershfield, M.S. et al. Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. Clin. Pharmacol. Ther. 93, 153-158 (2013.
69. Leckband, S.G. et al. Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and carbamazepine dosing. Clin. Pharmacol. Ther. 94, 324-328 (2013.
70. Martin, M.A., Klein, T.E., Dong, B.J., Pirmohamed, M., Haas, D.W. & Kroetz, D.L.; Clinical Pharmacogenetics Implementation Consortium Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing. Clin. Pharmacol. Ther. 91, 734-738 (2012.
71. Scott, S.A. et al.; Clinical Pharmacogenetics Implementation Consortium Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. Clin. Pharmacol. Ther. 90, 328-332 (2011.
72. Scott, S.A. et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin. Pharmacol. Ther. 94, 317-323 (2013.
73. Agency for Healthcare Research and Quality About Evidence-based Practice Centers (EPCs). http://effectivehealthcare.ahrq.gov/index.cfm/who-isinvolved-in- The-effective-health-care-program1/about-evidence-basedpractice-centers-epcs/. Accessed 2 August 2013.
74. The Cochrane Library, Cochrane Database of Systematic Reviews. http://www. thecochranelibrary.com/view/0/index.html. Accessed 29 October 2013.
75. Agency for Healthcare Research and Quality. Technology Assessments. http://www.ahrq.gov/research/findings/ta/index.html. Accessed 2 August 2013.