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Genome-Based Diagnostics Demonstrating Clinical Utility in Oncology: Workshop Summary (2013) / Chapter Skim
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2 Setting the Context
Pages 5-10

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From page 5...
... Bringing diagnostic tests to market previously required developing evidence of technical feasibility, analytic validity, and clinical validity, said Robert McCormack, co-chair of the workshop. Decision makers now need 5
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From page 6...
... 6 GENOME-BASED DIAGNOSTICS TABLE 2-1  Genomic Predictive Markers of Cancer Treatment Efficacy and Safety Test/Markers Drugs Cancer Outcomes In Clinical Use HER2/neu Trastuzumab, Pertuzumab Breast Cancer -- Recurrence/ Survival Oncotype Dx Use of Adjuvant Breast Cancer -- Recurrence/ Chemotherapy Survival EGFR mutation Erlotinib Lung Cancer -- Progression/ Survival K-ras Cetuximab, Panitumumab Colorectal Cancer -- Progression/ Survival EML4-ALK mutation Crizotinib Lung Cancer -- Progression/ Survival BRAF V600E Vemurafenib Melanoma Cancer -- Progression/Survival BCR-ABL Imatinib, Dasatinib, CML -- Response Nilotinib C-Kit Imatinib GIST -- Response/Recurrence/ Progression TPMT 6-MP, 6-TG ALL, AML -- Toxicity DPD 5-FU Toxicity UGT1A1 Irinotecan Toxicity Emerging Evidence MSI Status 5-FU Colorectal Cancer -- Prognosis/ Recurrence/Survival Mammaprint Treatment Regimen Breast Cancer -- Recurrence/ Survival K-ras Mutation Anti-EGFR Therapy Lung Cancer -- Recurrence/ Survival ERCC1 Cisplatin-Based Therapy Lung Cancer -- Recurrence/ Survival NOTE: ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; BCR-ABL, breakpoint cluster region-abelson; BRAF, v-raf murine sarcoma viral oncogene homolog B1; CML, chronic myeloid leukemia; DPD, dihydropyrimidine dehydrogenase; EGFR, epidermal growth factor receptor; EML4-ALK, echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase; ERCC1, excision repair cross-complementing rodent repair deficiency, complementation group 1; FU, fluorouracil; GIST, gastrointestinal stromal tumor; HER2, human epidermal growth factor receptor 2; MP, mercaptopurine; MSI, microsatellite instability; TG, thioguanine; TPMT, thiopurine methyltransferase; UGT1A1, UDP glucuronosyltransferase 1 family, polypeptide A1. SOURCE: Adapted from Andrew Freedman, workshop presentation, May 24, 2012.
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From page 7...
... "We are hopeful that we can come to a point where we can understand the level of evidence that is required to get us to the next level of a seamless pathway for introducing these [diagnostic tests] into patient use." The Potential and the Problems According to Sean Tunis, director of the Center for Medical Technology Policy, which was a cohost of the workshop, molecular diagnostics 1  Andrew Freedman, chief of the Epidemiology and Genomics Research Program's Clinical and Translational Epidemiology Branch at the National Cancer Institute, cited these four questions during his workshop presentation, which is summarized in Chapter 4.
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From page 8...
... First, is the evidence adequate to determine whether the test provides accurate diagnostic information? Second, if the test changes accuracy, is the evidence adequate to determine how the changed accuracy affects health outcomes?
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From page 9...
... test in 1993, high-throughput hepatitis testing in 1997, testing for tumor cells in the blood in 2004, and a two-gene pathology lab test to detect cancer cells in women undergoing resection for primary breast cancer in 2007 -- only in the last case did regulatory approval require a demonstration of clinical utility, which was done in a postmarket context. In launching these tests, McCormack was repeatedly asked three questions by providers.
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From page 10...
... Thus, said Tunis, "there is a critical need for stakeholders to come together and develop some common, shared understanding of what constitutes adequate evidence of clinical utility and a process for doing that." Clear, consistent, and predictable evidentiary expectations are essential, said Tunis. "Until we translate that dialogue into specific methodological recommendations for designing studies of clinical utility, we can't really move the field forward in a meaningful and predictable way." These methodological recommendations are as much a product of a social consensus as a scientific consensus, Tunis remarked.
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Key Terms

  • molecular diagnostics
  • genomic application
  • improved patient
  • classifying cancers
  • tumor markers

  • diagnostic tests
  • genomic predictive
  • application provide
  • tumor cells
  • patient outcomes

  • predictable evidentiary
  • potentially beneficial
  • discover potentially
  • cancers based
  • methodological recommendations

  • designing studies
  • predictive markers
  • move forward
  • shared understanding
  • evidentiary expectations

  • beneficial markers
  • clinical trials
  • strate clinical
  • clinical validity
  • women undergoing

  • application lead
  • scientific consensus
  • pathophysiologic reasoning
  • question drove
  • balancing public


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