Genetic Counseling and Pharm

Question 1

Identify the goals of genetic counseling.

Answer 1

Educate;Facilitate decision making and adjustment to genetic disease

Question 2

Identify the fundamental ethical principals of genetic counseling.

Answer 2

Respect for patient autonomy Beneficence where in personal well being is promoted Nonmaleficence or the need to do no harm Justice which includes equity with provision of equal care for all Respect for client confidentialityFour tenets of genetic counseling have also been delineated. These being that genetic counseling should be (1) educational, (2) unconditional, (3) supportive, and (4) nondirective.

Question 3

Identify the major components of a genetic counseling session.

Answer 3

1. Information gathering2. Establishment or verification of diagnosis3. Determination of risk assessment4. Education and information sharing5. Facilitation of client decision making6. Psychosocial assesment7. Empathy and support

Question 4

Recognize indications for genetic evaluation and counseling.

Answer 4

Known or suspected hereditary condition in family, fetus or child with birth defect, child with mental retardation , exposure to tetrogen, several other factors.

Question 5

Name reproductive options currently available for couples with increased risk for having a child with a genetic disorder and recognize the need to offer appropriate options to couples dependent upon mode of inheritance.

Answer 5

Take riskNo reproductionAdoptionSperm/egg donorPrenatal diagnosisPreimplantation diagnosis

Question 6

Recognize factors that may impact the client’s perception of risk, their selected course of action, and their utilization of services.

Answer 6

Pre-existing assumption, personal experience with condition, attitudes about illness/disabilities, anticipated burden, temporal factors, gender, culture, and religion

Question 7

Recognize factors that may impact the client’s perception of risk, their selected course of action, and their utilization of services.

Answer 7

1. perception of risk for disease, seriousness of disease2. family goals3. ethical, moral obligaitons4. financial issues

Question 8

Have an appreciation for some of the ethical issues that might arise with genetic counseling

Answer 8

So appreciated.

Question 9

Define pharmacogenetics and pharmacogenomics.

Answer 9

Pharmacogenetics is the study of differences in drug response due to allelic variation in genes affecting drug metabolism, efficacy, and toxicity.Pharmacogenomics, the genomic approach to pharmacogenetics, is concerned with the assessment of common genetic variants in the aggregate for their impact on the outcome of drug therapy.

Question 10

Contrast phase I and phase II drug metabolism steps.

Answer 10

Phase I (simplified): attach a polar group onto the compound to make it more soluble; usually a hydroxylation stepPhase II (simplified): attach a sugar/acetyl group to detoxify the drug and make it easier to excrete

Question 11

Describe the central role of the CYP450 enzyme system in drug metabolism.

Answer 11

The cytochrome P450 (CYP450) genes encode important enzymes that are very active in the liver and to a lesser extent in the epithelium of the small intestine. CYP450 enzymes metabolize a wide number of drugs.

Question 12

What is pharmacokinetics? Pharmacodynamics?

Answer 12

Pharmacokinetics: the rate at which the body absorbs, transports, metabolizes, or excretes drugs or their metabolites.Pharmacodynamics: the response of the drug binding to its targets and downstream targets, such as receptors, enzymes, or metabolic pathways

Question 13

What do drugs need to do to work?

Answer 13

Reach its target and exert its effect, before being metabolized or eliminated by the body

Question 14

Do CYP genes always inactivate drugs?

Answer 14

While most CYP genes are important in the rate of inactivation of a drug, in some cases the CYP gene(s) is required to activate a drug. The classic example of this is CYP2D6 activity being necessary to convert codeine (inactive, almost no analgesic effect) to morphine (active with a potent analgesic effect).

Question 15

Gene CYP3A: What are its substrates? What is its general function? What are its Inhibitors and inducers?

Answer 15

Cyclosporine, basically everything.It is the most important drug metabolizing enzyme because of its high presence in liver and intestines.Inhibitor: ketoconazole, grapefruit juiceInducer: Rifampin

Question 16

Isoniazid Metabolism and NAT gene: What does it treat? What is the mechanism?What does NAT activity modify?

Answer 16

Tuberculosis.Acetylation is determined by genetic polymorphisms. Is an important phase II pathway.Can separate people as fast or slow acetylators. Could have very slow metabolism and toxicity.NAT activity modifies risk of cancers by acetylating carcinogens.

Question 17

CYP2D6: Substrates, Inhibitors?

Answer 17

Tricyclic antidepressants, codeine(Changes codeine to morphine)Quinidine, fluoxetine, paroxetine

Question 18

CYP2C9: substrate, comments?

Answer 18

Warfarin, the alleles have different activity, 20% of whites are poor metabolizers and need a low dose, 3.5% of African Americans are poor metabolizers

Question 19

TPMT gene codes for what?What drugs are used to treat acute lymphoplastic leukemia?What can happen if you give the wrong dose to certain people with low TMPT activity?What is the standard of care?

Answer 19

Thiopurine S methyltransferase6-mercaptopurine and 6-thioguanineThey dieGenotype the patients before deciding their dose.

Question 20

What is G6PD deficiency?Substrates, mechanism, potential issues?

Answer 20

A X-linked disorder.Most common disease-producing enzyme defect in the world. 400 million people worldwide -10% of African American males are G6PD deficientSulfonamide antibiotics, dapsone X-linked enzymeG6PD deficient individuals are succeptible to hemolytic anemia after drug exposures.

Question 21

What drug acts on the gene products of the VKORC1 Gene? What is the prevalence of this drug in the US?

Answer 21

WarfarinWarfarin is a blood thinner prescribed to >20 million patients in the US annually.Different races often need different doses.