MCD BIO CM156 Lecture 18: Human genetics week 8 lect 2
9 Mar 2020
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Any change is damaging: testing of other family members, population studies, databases, molecular or functional analysis. Need to use interpretation guidelines to determine what is pathogenic (ask about slide 6) Increased segregation data leads to a more pathogenic disease. There will be 20,000 vus" that don"t match the human genome. Clinvar finds a variant linked to a disease. Mother sued lab because the scientists didn"t consider the disease a pathogenic disease. They didn"t know the phenotype fit and didn"t choose any other drugs. Classes of novel/unexpected sequence variants identified by whole genome/exome sequencing: missense variants of uncertain significance in known gene (vus, variants and deleterious mutations in unknown gene(s) (gus, deleterious mutations in unintended target (e. g. , brca mutations in a child) Genomic sequencing represents a sea-change in clinical laboratory testing: for the first time, patients may need to choose beforehand what portions of the test results they wish to receive or not receive.
