MGY250H1 Study Guide - Final Guide: Pharmacogenomics, Differential Diagnosis, Surrogate Decision-Maker
17 Dec 2016
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The different types of results that can be received from genetic testing. Clear answer give diagnosis and the reason for the phenotype. Give potential implications for family members: secondary finding. Medically actionable only not related to patient"s phenotype. Childhood vs. adult onset diseases: vus (variant of unknown clinical significance) Not an obvious pathogenic or benign result: negative result. Due to limitations on genetic testing can be a false negative. Some intronic sequences or promoter sequences cannot be well sequenced. The definition of medically actionable: ability to take preventative measures or get treated to decrease/eliminate the risk or severity of the disease, thus, the mutation is medically actionable. The criteria for judging whether a variant of unknown clinical significance is benign or pathogenic. Vus (variant of unknown clinical significance: potential implication for family members, not an obvious pathogenic or benign result.
