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Genome-Based Diagnostics Clarifying Pathways to Clinical Use: Workshop Summary (2012) / Chapter Skim
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1 Introduction
Pages 1-4

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From page 1...
... As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests.2 Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value.
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From page 2...
... "There's a very negative approach to rationalization of health care in the United States. We need to think about how to address that." The previous workshop also sought to address the variance in stakeholder evidentiary requirements, specifically probing whether demonstration of safety and efficacy is enough to justify use of a new genomic test in medical practice or whether tests need to demonstrate clinical utility or cost-effectiveness instead.
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From page 3...
... Collectively, the participants at the workshop charted a variety of ways to move forward in developing genomic diagnostic tests that could substantially improve human health. 3 The full statement of task can be found in Appendix C
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From page 4...
... Class III devices are the most complex and present the highest risk; makers of Class III devices must submit a premarket approval application demonstrating safety and effectiveness and obtain FDA approval prior to marketing. Initially, genetic tests focused on single genes.
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Key Terms

  • genomic diagnostic
  • genomic test
  • diagnostic test
  • genomic tests
  • health held

  • clinical utility
  • class iii
  • test development
  • iii devices
  • genetic variants

  • genetic tests
  • reimburse genomic
  • developing genomic
  • develop genomic
  • test predicts

  • crisis demands
  • encompass multiple
  • holder requirements
  • improve practice
  • surrounding regulatory

  • direct clinical
  • fiscal responsibility
  • health funders
  • complex software
  • test confirms

  • sufficient evidence
  • specifically probing
  • fda approval
  • prognostic test
  • ongoing global


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