MCP 11

Question 1

What percentage of genes to human share?

Answer 1

-99.5%

Question 2

What are the four basis of evidenced of personalized medicine?

Answer 2

1. drug therapy
2. idiopathic disease
3. cancer diagnosis, prognosis and treatment
4. prenatal testing and newborn screening

Question 3

pharmacogenetics

Answer 3

this relates heritable variation to inter-individual variation in drug response

Question 4

pharmacogenomics

Answer 4

the field of new drug development based on our rapidly increasing knowledge of all genes in the human genome

Question 5

pharmacokinetics

Answer 5

the study of the mechanisms of absorption and distribution of an administer drug, the rate at which a drug begins and the duration of the effect, the chemical changes of the substances in the body and the effects and routes of excretion of the metabolites of the drug

Question 6

ADRs

Answer 6

• 4/5th leading cause of death in adults
• overall incidence in US hospitals is 6.7%
• fatal ADR is 0.3%
• per year more than 2 million serious adverse drug reactions to FDA approved drugs
• about 100,000 americans die each year from ADR

Question 7

What is the main issue withe the current way drugs are developed?

Answer 7

-They are targeted to averages–> developed for the majority of people

Question 8

The benefits to patients are obvious what is the benefit to drug companies of practicing pharmacogenomics?

Answer 8

If a drug fails in the majority of people the R&D may not go to waste if it is found that the drug works in a minority or small subset of people with different variable genotype

Question 9

Define poor metabolizer

Answer 9

-no functional allele for this gene and thus has difficulty converting the drugs to their useable forms. There may be very low level of enzyme activity in which case the conversion process would be very slow. This results in accumulation of chemicals in body which may be toxic and these individuals generally require lower dosages

Question 10

Define ultra metabolizer

Answer 10

• this person has a duplicate of the copies of functional alleles and generally degrades the drug so rapidly that it is eliminated before therapeutic effects can be reached. Higher doses or other drugs may be effective in these situations

Question 11

Define intermediate metabolizer

Answer 11

-heterozygotes with one functional allele and one mutant these individuals can utilize drugs at a slower than normal rate and thus generally require smaller dosages to avoid toxic build up

Question 12

Define extensive metabolizer

Answer 12

considered normal genotype homozygous- 2 functional alleles that work in the expected fashion. most drugs are targeted to this population

Question 13

What is a critical element that must be taken into account when prescribing drugs?

Answer 13

-ethnic differences in frequencies of the classes of drug response

Question 14

What is the enzyme inhibited by warafarin?

Answer 14

vitamin K epoxidase reductase

Question 15

What foods/things can intefere with warafarin?

Answer 15

-garlic (increase risk of bleeding), diet high in leafy greens (vitamin K), other drugs (asprin, acetopminophen and antibiotics), alcohol etc.

Question 16

What is the gene associated with warfarin variability in doses?

Answer 16

• VKORC1 is one of the genes accounting for approximately 30% of the variation
• low dose (usually among Asians)
• high dose (usually among African Americans)

Question 17

What is the technical term for regions of UPD?

Answer 17

-“region of homozygosity” or “long continuous stretches of homozygosity”

Question 18

What is GINA ?

Answer 18

The genetic information non discrimination act

• > federal law that prohibits discrimination in health coverage and employment based on genetic information
• provides a baseline level of protection against genetic discrimination

Question 19

Define screening

Answer 19

testing on a population basis to identify individuals at risk of having or of transmitting a specific disorder
examples prenatal screening, newborn screening and carrier screening

Question 20

Give some specifics about newborn screening on the disease, test and follow up level

Answer 20

disease: clearly defined and treatable, reasonably high population incidence
test: large scale, rapid, inexpensive, low false positive and no false negatives
Follow up: definitive diagnosis, prompt treatment and genetic counseling

Question 21

Carrier screening

Answer 21

plan is to detect carriers and provide genetic counseling in the hopes that couple will opt for prenatal testing

1. mutation must be in reasonably high frequency
2. test is suitable for mass screening
3. genetic counseling available to explain to families
4. prenatal testing available so that when carrier couples are identified it is possible to determine if pregnancy will result in affected child