Module 13/14 Flashcards
precision medicine
customized prevention based on genetic info
personal genome
sequencing reveals predisposition
cystic fibrosis
auto recessive gene encodes protein channel to help chloride export salt from cells
cancer moonshot
intensify efforts to apply precision medicine to cancer by Biden
all of us program
gather data from 1M+ to accelerate research
craig venter
called for more genomes to be sequenced
CYP genes
involved in metabolizing medication
james watson
sequenced self genome except ApoE allele
pharmacogenetics
how genetic variations affect body’s response to drugs
warfarin
blood thinner, precise dosage, first drug to have FDA warning indicating genetic testing
cytochrome P450 genes
produce enzymes active in liver to metabolize drugs
poor metabolizer
two variants, LOF enzymes
intermediate metabolizer
one variant, LOF enzymes, one normal allele
normal metabolizer
no variants, normal enzyme activity
ultra-rapid metabolizer
increased enzyme activity
codeine
analgesic converted to morphine by CYP
HTR2A
serotonin receptor variant predicts response to antidepressants
TPMT
enzyme in detoxifying chemotherapy drugs
pipeline variant calling
how we identify variants from sequence data
DTC
direct to consumer testing for carrier status
ELSI
ethical, legal, societal implications
genome scan
scans limited number of SNPs for phenotype
exome sequencing
provides 3% of sequence
validity
analytic accuracy vs clinical
CLIA
sets federal standards for validity
FDA
determines clinical validity
incidental findings
findings not part of initial test
nutrigenetics
how genes are involved in nutrition and health
metagenomics
analysis of collective group of organisms from environment
16s sequence
16srRNA analysis of just rRNA in environmental sample. how we study microbes
universal primers
primers can anneal to many templates
human microbiome project
surveying microbiota found in 7 human tissues
