Consult with an expert familiar with a genetic test

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Consult with an expert familiar with a genetic test to determine which of the following technical issues are pertinent: Preanalytic Factors Obtaining, preserving, and storing samples before analysis Analytic Factors Type of assay, sample, methods being used, et cetera Postanalytic Factors Complexity of interpreting the genetic test result, lab- to-lab variability, and quality control Principle 4: Consult With Experts To Determine Which Technical Issues Are Important in Assessing Genetic Tests Jonas DE, Wilt TJ, Taylor BC, et al. Challenges in and principles for conducting systematic reviews of genetic tests used as predictive indicators. In: Methods guide for medical test reviews. Available at .
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Questions for Assessing Preanalytic, Analytic, and Postanalytic Factors for Evaluating Predictive Genetic Tests Element Questions* Preanalytic What patient characteristics are relevant to the analytic validity of the test (e.g., age, sex, ethnicity, race, ancestry, parental history of consanguinity, family health history)? What types of samples were used? How were samples obtained? How were samples handled and stored prior to analysis? Analytic What type of assay was used? What is the reliability of the assay? What specific analyte was investigated (e.g., specification of which alleles, genes, or biochemical analytes were evaluated)? For DNA-based tests, what is the definition of the genotype investigated? Did the study test for all potentially relevant alleles? For DNA-based tests, what genotyping methods were used? When were samples analyzed (compared to when they were collected)? Was the timing of analysis equal for both study groups (if applicable)? How often does the test give a usable result (what is the “call rate”)? Postanalytic How are the test results interpreted and applied? How complex is interpretation and application? What quality control measures were used? Were repeated measurements made on specimens? How reproducible is the test over time? How reproducible is the test when repeated in the same patient multiple times? How reproducible is the test from laboratory to laboratory? *Portions of this table were adapted from Burke et al. (2002) and Little et al. (2002). Jonas DE, Wilt TJ, Taylor BC, et al. Challenges in and principles for conducting systematic reviews of genetic tests used as predictive indicators. In: Methods guide for medical test reviews. Available at . Burke W, Atkins D, Gwinn M, et al. Am J Epidemiol 2002 Aug 15;156(4):300-10. PMID: 12181100. Little J, Bradley L, Bray MS, et al. Am J Epidemiol 2002 Aug 15;156(4):300-10. PMID: 12181099.
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Functional Assays Are used to measure the substrate/metabolic product affected by a genetic polymorphism Have the advantage of showing functional significance of an underlying genetic polymorphism Can be affected by factors unrelated to a polymorphism: Unmeasured environmental factors Other genetic polymorphisms Various disease states Assays that measure enzyme activity:
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