BOX 1-1


Analytic validity The accuracy and reliability of the test in detecting the genetic changes of interest.

Clinical validity The accuracy and reliability of the test in identifying patients with the disorder of interest.

Clinical utility The possibility that the test will lead to improved health.

Diagnostic test A test to confirm a specific condition.

Prognostic test A test which predicts the possibility of developing a specific condition.

On March 22, 2010, the roundtable convened a public workshop to examine the perceived value of genetic and genomic technologies, both present and future, in clinical practice from the perspectives of different stakeholders.1 The workshop was designed to build on the concepts of analytical validity, clinical validity, and clinical utility (Box 1-1) as well as the concepts of personal utility, public utility, and economic value, and to explore these concepts through questions such as:

  • How do different stakeholders define the value of genetic and genomic technologies?

  • How do stakeholders prioritize various aspects of genetic tests when determining value?

  • How do people assess the relative value of genetic tests when making personal health care decisions?

  • How do these types of value relate, or not relate, to the monetary cost of the technologies?

To facilitate discussion of the concepts, three specific case examples of genetic/genomic tests currently in use were presented, representing a range of different applications and spanning a range of opinions regarding their value: genetic testing for Lynch syndrome in colorectal cancer patients;


The planning committee’s role was limited to planning the workshop. This workshop summary has been prepared by a rapporteur as a factual summary of what occurred at the workshop. Statements and opinions are those of individual presenters and participants and should not be construed as reflecting any group consensus.

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