Personalized Medicine

Question 1

what drives personalized medicine?

Answer 1

genomics, proteomics, metabolomics

Question 2

Precision medicine

Answer 2

dividing people into subpopulations based on things like susceptibility to disease, response to a certain therapy, etc.
efficiently treat specified GROUPS of people
*not the same thing as personalized medicine

Question 3

Osteogenesis Imperfecta and Dentinogenesis imporfecta

Answer 3

auto d

single gene mutation in COL1A1 or COL1A2

Question 4

gorlin syndrome

Answer 4

jaw cysts, auto d and mutation in PTCH1 gene

Question 5

oral anti-coagulant warafarin and details

Answer 5

DEPENDS ON CYTOCHROME P450 2C9 OR CYP2C9 AND VKORC1 –> decides either high, low, or intermediate metabolism
used for long-term treatment and prevention of thromboembolic events

NEED TO GIVE LOWER DOSES OF DRUGS TO THE INDIVIDUALS THAT HAVE MUTATIONS IN THESE GENES –> if slow metabolism, drug can accumulate in the body and cause internal bleeding

Question 6

Herceptin

Answer 6

aka Trastuzumad -
monoclonal antibody drug that targets breast cancer OVEREXPRESSING HER2/neu - INHIBIT the proliferation of human tumor cells that overexpress the HER2

• example of molecular diagnostics being combined with cancer therapeutics - COMPANION DIAGNOSTICS - to determine whether or not HER2/neu is expressed (if not dont prescribe the drug)
• can also use for some gastric cancers - so first screen if person has overexpression of the HER2/neu

Question 7

pharmacogenomics

Answer 7

how genes effect a person’s response to a drugs

Question 8

T/F 70% of cancer drugs in development have a biomarker

Answer 8

TRUE - this shows the ability to use certain biomarkers like ER and PR receptors or HER2/ neu in cancer therapies

Question 9

gleevec and kalydeco are examples of? associated with what disease?

Answer 9

PERSONALIZED APPROACH of medicine examples

gleevec - with leukemia with those with philidelphia chromosome positive

kalydeco - with cystic fibrosis treatment to those with a mutation in G551D - showing an altered CTFR protein

Question 10

gleevec treatment mechanism

Answer 10

can treat a type of leukemia that are positive for the philadeplphia chromosome + (Ph+)
this is TYROSINE KINASE INHIBITOR - as it inhibits the Bcr-Abl tyrosine kinase

so test for bcr/abr translocation which determines if a patient will benefit from this drug or not

Question 11

cystic fibrosis treatment

Answer 11

use kalydeco (ivacaftor) IF THEY HAVE  A MUTATION IN THE CTFR PROTEIN AND THUS THE G551D 
aka door jamming mutation --> chloride ions can reach the channel at the cell surface, but CANNOT pass through

Question 12

CTFR protein

Answer 12

normally it develops and is associated with opening of the chloride channels - chloride ions can then pass freely

Question 13

applications of genomic technologies

Answer 13

identification of the virus responsible for SARS

lung cancer with GENETIC DIAGNOSTIC

Question 14

dor yeshorim

Answer 14

this approach was credited to near total elimination of Tay-Sach’s in the population

Question 15

genetic diagnostic

Answer 15

find what genetic differences are present and prediction of who will respond to treatment/who will not
using companion diagnostics

Question 16

T/F analysis of age-standardized death rates show significant success in treatment of heart disease and stroke, but practically no progress in cancer, whereas death rates for COPD and diabetes increase despite astronomical health care spending

Answer 16

TRUE

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Question 17

MammaPrint

Answer 17

Gene-expression diagnostic product on the market

• 70-gene signature, FDA approved, GIVES A CLEAR RISK ASSESSMENT FOR THE RECURRENCE OF DISTANT METASTASIS IN BREAST CANCER PATIENTS WITHIN CLINICALLY INTERMEDIATE RISK GROUP
• independent of Estrogen Receptor Status and can determine whether or not need more invasive therapy or not

defer from chemotherapy and not be at risk for recurrence of metastasis?

Question 18

Oncotype DX

Answer 18

16 gene signature

estimates the liklihood of recurrence and whether or not chemotherapy will be beneficial

Question 19

Oncotype DX - colon cancer

Answer 19

12- gene

estimates the liklihood of recurrence and whether chemotherapy is beneficial

Question 20

MLH1 and MSH2

Answer 20

genetic testing that would show potential increased liklihood of colon cancer