An overview of recommendations and translational milestones for genomic tests in cancer

Genetics in Medicine

Volumn 17, Issue 6, 2015, Pages 431-440

  Chang, Christine Q ^a   Tingle, Sharna R ^a   Filipski, Kelly K ^a   Khoury, Muin J ^a,b   Lam, Tram Kim ^a   Schully, Sheri D ^a   Ioannidis, John P A ^a,c,d  

^a NATIONAL CANCER INSTITUTE   (United States)

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

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE LYMPHOBLASTIC LEUKEMIA; ACUTE MYELOBLASTIC LEUKEMIA; BREAST CANCER; CHRONIC LYMPHATIC LEUKEMIA; FOOD AND DRUG ADMINISTRATION; GENETIC ASSOCIATION; GENETIC SCREENING; GLIOMA; HUMAN; IN VITRO STUDY; MEDICAL SOCIETY; MELANOMA; NEOPLASM; NON SMALL CELL LUNG CANCER; OVARY CANCER; PRACTICE GUIDELINE; PROSTATE CANCER; REVIEW; THYROID CANCER; TRANSLATIONAL RESEARCH; DIAGNOSTIC TEST APPROVAL; EARLY CANCER DIAGNOSIS; GENETICS; GENOMICS; META ANALYSIS; NEOPLASMS; PROCEDURES; STANDARDS; UNITED STATES;

DIAGNOSTIC TEST APPROVAL; EARLY DETECTION OF CANCER; GENETIC TESTING; GENOMICS; HUMANS; NEOPLASMS; TRANSLATIONAL MEDICAL RESEARCH; UNITED STATES; UNITED STATES FOOD AND DRUG ADMINISTRATION;

EID: 84930371759     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.133     Document Type: Review

References (32)

1. Tremblay J, Hamet P. Role of genomics on the path to personalized medicine. Metabolism 2013;62(suppl 1):S2-S5.
2. Pasic MD, Samaan S, Yousef GM. Genomic medicine: new frontiers and new challenges. Clin Chem 2013;59:158-167.
3. Weiss RL. The long and winding regulatory road for laboratory-developed tests. Am J Clin Pathol 2012;138:20-26.
4. Teutsch SM, Bradley LA, Palomaki GE, et al.; EGAPP Working Group. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med 2009;11:3-14.
5. National Institute for Health and Clinical Excellence. The Guidelines Manual. 2013. http://www.nice.org.uk/guidelinesmanual. Accessed 31 October 2013.
6. American Society of Clinical Oncology. ASCO Guidelines: Methodology Manual. 2013. http://www.asco.org/sites/default/files/methodology-manual-1.25.11-0.pdf. Accessed 5 November 2013.
7. BlueCross BlueShield Association. Technology Evaluation Center (TEC). 2013. http://www.bcbs.com/blueresources/tec/. Accessed 30 October 2013.
8. US Preventive Services Task Force. Methods and Processes. 2013. http://www.uspreventiveservicestaskforce.org/methods.htm. Accessed 5 November 2013.
9. National Comprehensive Cancer Network. NCCN Guidelines and Derivative Information Products: User Guide. 2013. http://www.nccn.org/professionals/default.aspx. Accessed 5 November 2013.
10. Agency for Healthcare Research and Quality. National Guideline Clearinghouse. 2013. http://www.guideline.gov/index.aspx. Accessed 31 October 2013.
11. Febbo PG, Ladanyi M, Aldape KD, et al. NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. J Natl Compr Canc Netw. 2011;9(suppl 5):S1-32; quiz S33.
12. US Department of Health and Human Services. US Food and Drug Administration. 2013. www.fda.gov. Accessed 5 November 2013.
13. Contopoulos-Ioannidis DG, Alexiou GA, Gouvias TC, Ioannidis JP. Medicine. Life cycle of translational research for medical interventions. Science 2008;321:1298-1299.
14. Contopoulos-Ioannidis DG, Ntzani E, Ioannidis JP. Translation of highly promising basic science research into clinical applications. Am J Med 2003;114:477-484.
15. National Cancer Institute. Common Cancer Types. 2013. http://www.cancer.gov/cancertopics/types/commoncancers. Accessed 5 November 2013.
16. Altman DG, Riley RD. Primer: an evidence-based approach to prognostic markers. Nat Clin Pract Oncol 2005;2:466-472.
17. Riley RD, Sauerbrei W, Altman DG. Prognostic markers in cancer: the evolution of evidence from single studies to meta-analysis, and beyond. Br J Cancer 2009;100:1219-1229.
18. Morris ZS, Wooding S, Grant J. The answer is 17 years, what is the question: understanding time lags in translational research. J R Soc Med 2011;104:510-520.
19. Poste G. Bring on the biomarkers. Nature 2011;469:156-157.
20. Bollag G, Tsai J, Zhang J, et al. Vemurafenib: the first drug approved for BRAF-mutant cancer. Nat Rev Drug Discov 2012;11:873-886.
21. Elion GB, Hitchings GH, Vanderwerff H. Antagonists of nucleic acid derivatives. VI. Purines. J Biol Chem 1951;192:505-518.
22. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980;32:651-662.
23. van 't Veer LJ, Dai H, van de Vijver MJ, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature 2002;415:530-536.
24. Guyatt GH, Oxman AD, Vist GE, et al.; GRADE Working Group. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008;336:924-926.
25. National Center for Biotechnology Information. Genetic Testing Registry (GTR). 2013. http://www.ncbi.nlm.nih.gov/gtr/. Accessed 5 November 2013.
26. Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014;311:1035-1045.
27. Abrams J, Conley B, Mooney M, et al. National Cancer Institute's precision medicine initiatives for the new National Clinical Trials Network. Am Soc Clin Oncol Educ Book. 2014; 71-76.
28. Ginsburg GS, Kuderer NM. Comparative effectiveness research, genomicsenabled personalized medicine, and rapid learning health care: a common bond. J Clin Oncol 2012;30:4233-4242.
29. Patel L, Parker B, Yang D, Zhang W. Translational genomics in cancer research: converting profiles into personalized cancer medicine. Cancer Biol Med 2013;10:214-220.
30. Drucker E, Krapfenbauer K. Pitfalls and limitations in translation from biomarker discovery to clinical utility in predictive and personalised medicine. EPMA J 2013;4:7.
31. Food and Drug Administration. Personalized Medicine: FDA's Unique Role and Responsibilities in Personalized Medicine. 2014. http://www.fda.gov/scienceresearch/specialtopics/personalizedmedicine/default.htm. Accessed 10 February 2014.
32. Food and Drug Administration. Framework for Regulatory Oversight of Laboratory Developed Tests (LDTs). 2014. http://www.fda.gov/downloads/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/UCM407409.pdf. Accessed 7 August 2014.