Module 6: Applications of Clinical Genetic Testing

Question 1

Presymptomatic Testing

Answer 1

• Testing a person for a condition that runs in the family
• If positive, they will develop the condition
• Ex: Huntington’s Disease

Question 2

Diagnostic Genetic Testing

Answer 2

• Confirm a diagnosis in a person w/ signs or symptoms

- Considers gene panels, whole exome sequencing, & whole genome sequencing

Question 3

Predictive Testing

Answer 3

• Genetic finding means an increased risk of developing the condition
• Positive - may never develop condition
• Negative - still might develop condition
• Ex: Hereditary breast & ovary cancer syndrom

Question 4

Susceptibility Testing

Answer 4

• Tests gene variants associated w/ genetic susceptibility

- Variants don’t equal mutation

Question 5

Pharmacogenetics

Answer 5

• Genetic modifiers of drug metabolism

- Appropriate dosing based on genotype to decrease adverse events

Question 6

How should a negative test result be interpreted?

Answer 6

• Negative result w/out a known mutation in the family is limited
• It’s possible that you tested the wrong genes or the test can’t find all mutations

Question 7

How should a true negative result be interpreted?

Answer 7

• When the family mutation is known

- Someone has tested positive & we know what specific genes to test

Question 8

How should a variant test result be interpreted?

Answer 8

• This means the test is inconclusive
• Results may o may not be medically actionable
• May need to test the rest of family