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Genetics - Personalized Medicine Questions and and answers
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Genetics - Personalized Medicine Questions and and answers
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Genetics - Personalized MedicineGenetics vs Genomics
Genetics: genes code for proteins, changes in DNA affects disease risk
Genomics: broader application, an individuals entire DNA sequence (affects on health and
disease)
how many nucleotides were found with the human genome project?
3 x 10^9
the Hap-Map found that there is greater variability (within/between) an ethnic group than
there is (within/between) ethnic groups.
within ; between
we as humans are >________% identical
99
sequencing the entire human genome
"whole" genome sequencing (research and clinical)
sequencing the exons in human genome
"whole" exome sequencing (clinical)
focus on specific bases in the DNA sequence and determines which of the 4 bases the
individual has in those postitions
genome-wide association (GWA)/ SNP
limitations for sequencing for diagnosis
there can be different gene markers (have to test multiple family members for multiple
genes), expensive, not all labs interpret the same, exome vs genome sequencing,
methodology (diff amounts of bp looked at at a time)
most well sequenced genes in our genetic makeup
BRCA1/BRCA2
, exome sequencing is identifying a cause in up to ______% of cases
40
methodology limitations in sequencing
100-250bp read at a time
-variation in programs used
-cannot distinguish b/w close copies of regions (trinucleotide repeats)
phenotype limitations in sequencing
lab needs to know patient's phenotype as well as possible to rule out irrelevant genes and
only test for relevant ones
-may not get accurate information
T or F: lab interpretation of sequencing is a dynamic process
TRUE - a patients genetic information doesn't change but the interpretation may change
over time (with more information)
exome is about ___% of the genome
1-2
genome sequencing and interpretation you can receive in 4-5 days
rapid genome sequencing (rGS) ; has high potential to dx and change management for
critically ill neonates and children
what kind of testing can pick up much more than testing single or handful of genes?
Exome/Genome sequencing (also cheaper than sequencing handful of genes individually)
T or F: Exome/genome sequencing has to be very redundant to pick up the needle in the
haystack
TRUE - need to limit "holes" in sequence data to not miss a relevant finding
what type of genetic abnormalities may exome/genomic sequencing miss?
pseudogenes, triplet repeat disorders, methylation abnormalities, large genomic
rearrangements
what type of testing is NOT included in the incidental findings of sequencing?
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