Genetic testing

Question 1

What is the difference between a genetic screen and a genetic test?

Answer 1

Screens are based around probability (who is likely to develop the disease and who isn’t) and are applied to communities and populations. Tests are looking for a specific variant or set of variants in a fewer individuals than a whole community

Question 2

Who are screens applied to?

Answer 2

Communities and populations instead of probands and their relatives

Question 3

Do screens result in definitive diagnoses?

Answer 3

No

Question 4

Are screens reactive or proactive?

Answer 4

Proactive - identifying who might have the disease and sending them for further testing

Question 5

What is a genetic test?

Answer 5

Specific assay designed to detect a particular genetic variant or a handful of them

Question 6

Who are tests applied to?

Answer 6

Probands and their relatives in a particular population for a particular purpose

Question 7

Why aren’t tests used on whole populations?

Answer 7

Unfeasible. Would run out of resources real quick

Question 8

Are tests used as a diagnostic tool?

Answer 8

Yes

Question 9

Are tests proactive or reactive?

Answer 9

Reactive