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An Evidence Framework for Genetic Testing (2017) / Chapter Skim
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Glossary
Pages 131-136

The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.


From page 131...
... Clinical Laboratory Improvement Amendments (CLIA) -- amendments passed by Congress in 1988 that established quality standards for all nonresearch laboratory testing performed on specimens derived from humans for the purpose of providing information for the diagnosis, prevention, or treatment of disease or impairment of or assessment of health.
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From page 132...
... Clinical trial -- a formal study carried out according to a prospectively defined protocol that is intended to discover or verify the safety and effectiveness of procedures or interventions in humans. Clinical utility -- evidence of improved measurable clinical outcomes, and a test's usefulness and added value to patient management and decision making compared with current management in the absence of testing.
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From page 133...
... The DNA base sequence carries the information that a cell needs to assemble protein and RNA molecules. DNA sequence information is important in investigating the functions of genes.
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From page 134...
... Negative predictive value (NPV) -- the probability that a person who has a negative test result is truly unaffected or does not have the particular disease or characteristic that the test is designed to detect.
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From page 135...
... Positive predictive value -- the probability that a person who has a positive test result has or will develop the particular disease or characteristic that the test is designed to detect; a measure of the ratio of true positives to false and true positives. Precision medicine -- tailoring of medical treatment to the individual characteristics of each patient to classify patients into populations that differ in their susceptibility to a particular disease or in their response to a specific treatment.
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From page 136...
... -- a measure of how often a test correctly identifies patients who have a specific diagnosis. It is calculated as the number of true-positive results divided by the number of true-positive plus false-negative results.
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Key Terms

  • particular disease
  • dna molecule
  • dna sequence
  • clinical laboratory
  • identifies patients

  • genetic disorder
  • single nucleotide
  • true positives
  • quality standards
  • rna molecules

  • correctly identifies
  • nucleotide polymorphism
  • specific treatment
  • test correctly
  • test result

  • specific diagnosis
  • laboratory process
  • predictive value
  • confidence intervals
  • phenotype operate

  • negative test
  • resolve uncertainty
  • separate traits
  • genome project
  • detect closely

  • presymptomatic testing
  • truly unaffected
  • gene mutations
  • controlled trials
  • medical treatment


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