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An Evidence Framework for Genetic Testing (2017) / Chapter Skim
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Appendix B: The GETT Checklist
Pages 95-100

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From page 95...
... Overview of the disease: epidemiology and genetics 1.1 Disease prevalence Provide the prevalence estimated for the target population for age, sex, ethnic group or country. 1.2 Disease outcomes Describe the outcomes for patient, family and society including life expectancy, morbidity, severity (wide clinical spectrum)
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From page 96...
... Specify if there are high quality annotated sequences, mutation databases, and professional bodies overseeing testing. Describe the method of analyses used (tests combined in parallel or cascade)
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From page 97...
... Are internal quality control procedures applied to the laboratory as a whole or specific to the test? Provide the rates of errors reported.
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From page 98...
... 6.3 Test accessibility What are the accessibility limits for this test? Is information concerning this molecular test accessible to health care professionals and the public (community genetics approach)
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From page 99...
... SOURCE: Rousseau et al., 2010. De Gruyter Clinical Chemistry and Laboratory Medicine, Walter De Gruyter GmbH Berlin Boston, 2010.
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Key Terms

  • target population
  • analytical validity
  • molecular test
  • clinical validity
  • gruyter gmbh

  • provide reference
  • complete existing
  • targeted mutations
  • molecular analysis
  • neomutation rate

  • legal aspects
  • internationally accepted
  • summary table
  • accepted body
  • improvement program

  • consensus relating
  • disease prevalence
  • neonatal screening
  • disease outcomes
  • clinical chemistry

  • list missing
  • validity accuracy
  • penetrance change
  • evaluative research
  • potential risks

  • locus specific
  • population considered
  • mutations sought
  • reference gene
  • wide clinical


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