Intro to Genetic Testing

Question 1

What is meant by newborn population screening?

Answer 1

Each newborn is screened for rare diseases despite no family history also optimizes sensitivity of a test

Question 2

What are the general principles when designing a newborn population screening for a genetic disease?

Answer 2

High SENSITIVITY and specificity
Low cost
Disease that is easily treatable and would otherwise cause morbidity
Diseases that affect a large population

Question 3

What is the difference between a screening test and a diagnostic test?

Answer 3

Screening tests are to find rare individuals with the disease despite no family history.
Diagnostic tests are when the disease is already suspected in an individual and the test is used to know if the individual has it one way or the other.

Question 4

What is the difference between specificity and sensitivity?

Answer 4

Specificity is the probability a disease free person will get a negative test True negative/ (True negative + false positive). Sensitivity is the probability that a disease person will get a true positive (True positive/ True positive + false negative)