personalized medicine

Question 1

an individuals entire dna sequence

Answer 1

genomics

Question 2

what did we see in the HGP

Answer 2

transcription factors are more important than the differences in our genes
we found similarities in complex regions

Question 3

what did the HGP map

Answer 3

humans genome

Question 4

when was the HGP

Answer 4

1999-2003

Question 5

what did the Hap map do

Answer 5

separated what was actually relevant from the HGP

Question 6

the ____ found that there is greater variability _____ and ethnic group than ______ ethnic groups

Answer 6

hap map, within, btwn

Question 7

the human genome project expected to identify _____ genes, but actually found _____

Answer 7

35,000

22,000

Question 8

as humans, we are ______ % identical

Answer 8

over 99

Question 9

whole genome sequencing sequences _______

Answer 9

entire human genome which is about 6 billion nucleotides

Question 10

whole exome sequencing sequences _______

Answer 10

exons in the human genome which is about 9-12 million nucleotides

Question 11

GWA studies/ SNPs focus on_____

Answer 11

specific bases in the DNA sequence

Question 12

we use this genomic technology in research

Answer 12

whole genome

Question 13

we use this genomic technology in clinical practice

Answer 13

whole exome

Question 14

we use this genomic technology in DTC

Answer 14

GWAS/SNP

Question 15

what do we look for in clinical genetic testing

Answer 15

single gene sequencing and mutations in specific genes

Question 16

is single gene sequencing expensive?

Answer 16

yes! it’s about $600-4000

Question 17

if we cant find a specific gene cause in a family, what do we do

Answer 17

screen ALL family members via EKG and MRA

Question 18

what does VUS stand for

Answer 18

variant of unknown significance

Question 19

what are some limitations of single gene sequencing

Answer 19

we get VUS 3-6% of the time and not all labs interpret the same

Question 20

we have a fast turn around time for single gene sequencing, but sometimes it takes _____ hours to interpret the results

Answer 20

over 300 hours

Question 21

exome sequencing identifies a cause in ____% of cases

Answer 21

40

Question 22

what limits finding an answer in exome sequencing

Answer 22

methodology, phenotypic info given, interpretation of variants (sometimes we dont know what every variant does)

Question 23

what happens in methodology

Answer 23

sequencing reads 100-250 bp at a time then a computer organizes the reads

Question 24

limitations of methodology and it only reading 100-250 bp

Answer 24

we depend on computers to arrange info and it does not distinguish between close copies of regions

Question 25

computers that arrange info in methodology have a ____% error rate which is __________

Answer 25

0.1%, unacceptable

Question 26

what does exome/genome sequencing not detect?

Answer 26

pseudogenes, trinucleotide repeats, large genomic rearrangements, large deletions and duplications of whole genes, methylation abnormalities

Question 27

methodology is confirmed by this

Answer 27

traditional sanger sequence

Question 28

we dont need to test all 22000 genes so we other data to help us know where to look. what other data does the lab need

Answer 28

mri findings, muscle biopsy findings, clinical course, FH

Question 29

most well described genes have a ____% VUS rate

Answer 29

3-16

Question 30

how do labs interpret genetic results

Answer 30

case reports and data bases

Question 31

true or false: some genes have no known function

Answer 31

true

Question 32

a patients _____ dont change over time, but _____ may

Answer 32

genes; interpretation

Question 33

with exome sequencing, we only sequence about ____% of the entire genome

Answer 33

1-2

Question 34

if a gene is labeled as ______ it might be benign or pathogenic

Answer 34

VUS

Question 35

before doing gene sequencing in clinical practice, what do pt have to go through

Answer 35

pre-test counseling

Question 36

what 2 types of incidental findings may we have on a genetic test

Answer 36

carrier status or medically actionable genes

Question 37

can the family pick if they want additional information about a genetic test

Answer 37

yes

Question 38

when doing a genetic test, what kinds of carrier statuses might we find

Answer 38

someone with a common recessive disorder like CF or tay sachs which may impact reproduction for a family

Question 39

what medically actionable genes can be found on a genetic test

Answer 39

treatable childhood or adult disorders, untreatable child disorders, or childhood cancer syndromes

Question 40

what is NOT included on a genetic test

Answer 40

adult onset disorders like alzheimers and parkinsons

Question 41

are epilepsy disorders in kids treatable?

Answer 41

yes

Question 42

how much does it cost to sequence an exome

Answer 42

$8000

Question 43

this genetic test is a last resort

Answer 43

WES

Question 44

could identifying a cause affect trmt?

Answer 44

yes, bc then we can manipulate the basis of the disease via over or underexpression instead of the sx

Question 45

what are GWAS/SNP

Answer 45

when we look at a whole population to see if we can figure out a pattern for who has sx and who does not… COMPLEX

Question 46

GWAS/SNP are done for these types of diseases

Answer 46

more common ones; they quantify risks for individuals/groups

Question 47

slide 59

Answer 47

1