November 17, 2010, to explore issues related to this lack of evidence.1 Various stakeholders, including regulators and policymakers, payers, healthcare providers, researchers, funders, and evidence-based review groups, were invited to share their perspectives on the strengths and limitations of the evidence being generated to assess the clinical validity and utility of genomic diagnostic tests. Specifically, panelists were asked to address the following:

  • What evidence is required by stakeholders (e.g., for decisions regarding clearance, use, and reimbursement)?

  • How is evidence currently being generated?

  • Are there innovative and efficient ways to generate high-quality evidence?

  • How can the barriers to generating this evidence be overcome?

Early genetic tests, Leonard explained, were focused on single genes. The market was limited and reimbursement was poor, and the in vitro diagnostics industry was therefore not very interested in developing genetic tests. Instead, genetic tests for the diagnosis of disease were generally developed as needed by clinical laboratories. These were based on published genotype–phenotype correlations and were developed using standard molecular biology methods and sets of patient and control samples. The Clinical Laboratory Improvement Amendments (CLIA) (42 U.S.C. 263a) allows such practices without the need for receiving device clearance from the U.S. Food and Drug Administration (FDA). However, Leonard said, there were concerns about the quality of these tests, the potential for harm to patients, the clinical validity and utility of the tests, and the relatively expensive cost.

Genetic tests are still in use today, Leonard said, but the focus has shifted to genomic tests, which are complex testing algorithms of multiple genetic variants, multiple genes, or gene expression patterns. Genomic tests are used for diagnosis as well as for therapeutic selection, dosing, prognosis, and residual disease detection. However, the majority of these tests have insufficient clinical validity and utility data, and there is currently little evidence of improved health outcomes from their use (Table 1-1). The increasing role of genomic tests in clinical decision-making has led to


This workshop was organized by an independent planning committee whose role was limited to developing the meeting agenda. This summary has been prepared by the rapporteurs as a factual summary of the discussion that took place at the workshop. All views presented in the report are those of the individual workshop participants and should not be construed as reflecting any group consensus.

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