Module 13/14 Flashcards

1
Q

precision medicine

A

customized prevention based on genetic info

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2
Q

personal genome

A

sequencing reveals predisposition

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3
Q

cystic fibrosis

A

auto recessive gene encodes protein channel to help chloride export salt from cells

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4
Q

cancer moonshot

A

intensify efforts to apply precision medicine to cancer by Biden

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5
Q

all of us program

A

gather data from 1M+ to accelerate research

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6
Q

craig venter

A

called for more genomes to be sequenced

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7
Q

CYP genes

A

involved in metabolizing medication

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8
Q

james watson

A

sequenced self genome except ApoE allele

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9
Q

pharmacogenetics

A

how genetic variations affect body’s response to drugs

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10
Q

warfarin

A

blood thinner, precise dosage, first drug to have FDA warning indicating genetic testing

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11
Q

cytochrome P450 genes

A

produce enzymes active in liver to metabolize drugs

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12
Q

poor metabolizer

A

two variants, LOF enzymes

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13
Q

intermediate metabolizer

A

one variant, LOF enzymes, one normal allele

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14
Q

normal metabolizer

A

no variants, normal enzyme activity

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15
Q

ultra-rapid metabolizer

A

increased enzyme activity

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16
Q

codeine

A

analgesic converted to morphine by CYP

17
Q

HTR2A

A

serotonin receptor variant predicts response to antidepressants

18
Q

TPMT

A

enzyme in detoxifying chemotherapy drugs

19
Q

pipeline variant calling

A

how we identify variants from sequence data

20
Q

DTC

A

direct to consumer testing for carrier status

21
Q

ELSI

A

ethical, legal, societal implications

22
Q

genome scan

A

scans limited number of SNPs for phenotype

23
Q

exome sequencing

A

provides 3% of sequence

24
Q

validity

A

analytic accuracy vs clinical

25
CLIA
sets federal standards for validity
26
FDA
determines clinical validity
27
incidental findings
findings not part of initial test
28
nutrigenetics
how genes are involved in nutrition and health
29
metagenomics
analysis of collective group of organisms from environment
30
16s sequence
16srRNA analysis of just rRNA in environmental sample. how we study microbes
31
universal primers
primers can anneal to many templates
32
human microbiome project
surveying microbiota found in 7 human tissues