Pharmacogenomics

Question 1

Pharmacogenetics

Answer 1

The study of of variations in a single DNA sequences and the effects on drug response in terms of ADME (PK) and Action (PD)

Question 2

Pharmacogenomics

Answer 2

The study of variations in a persons entire genome and the effects on drug response in terms of ADME (PK) and Action (PD)

Question 3

Pharmacogenetics/Pharmacogenomics
- Challenges

Answer 3

Technology is still in early stages

Ethical, Social, Legal concerns

Cost is very expensive

Educating how to interpret responses

Question 4

Pharmacogenetics/Pharmacogenomics
- Considerations

Answer 4

Informed Consent
- Must be obtained

Personal vs Corporate ownership
- Must be clear who owns the data

Accessibility
- Must be clear who can access results

Genetic Privacy

Genetic Discrimination

Question 5

Role of genetic counselor

Answer 5

Pre-test: Explain the effects of test of patient and their family

Post-test: To interpret the results to patient

Question 6

When to refer to genetic counselor

Answer 6

• When results will affect the family
• When results will affect the patient and cause severe anxiety
• When we need more intensive patient education

Question 7

Incidental findings
- What is it

Answer 7

Extra findings found by a test that dont relate to the primary intention of why the doctor ordered the test

Question 8

Incidental findings
- What does it affect

Answer 8

Disease prognosis/dianosis

Therapy management

Question 9

Components of Informaed Consent

Answer 9

• General description
• Purpose of test
• Genetic counselling
• Results/meaning
• Description of disease tested / enzymes
• Disclosure
• Storage / Destruction of data/samples
• Medical risks/benefits

Question 10

Genetic Discrimination

Answer 10

Difference in treatment of an individual by his Employer, Insurance company, community, healthcare system due to known genetic disorders or polymorphisms

Question 11

Genetic Stigmatization

Answer 11

Social process
- Involves labelling features of an individual such as occupation, disease, and skin colour based on genotype

Question 12

Personalized vs Precision Medicine

Answer 12

Personalized Medicine is the old term
- Misleading as it does not mean everyone gets their own specific treatment

Precision Medicine looks into the patients genes and for targeted therapy