Genomic Diagnostic Methods

Question 1

What is the difference between whole exome and whole genome sequencing?

Answer 1

Whole exome sequencing only looks at the exons in a genome.

Whole genome sequencing looks at the whole genome, including introns, promotors, enhancers, etc.

Question 2

What is the clinical utility of exome sequencing?

Answer 2

Exome sequencing is cheaper than whole genome sequencing.
Uses of exome sequences:
1. Can suggest prognosis for a disease
2. Can suggest what treatments may be effective.
3. Can be useful for genetic counseling.

Question 3

Incidental findings: Pros

Answer 3

The patient might benefit if you discover an incidental finding that is well known and treatable.

Question 4

Incidental findings: Cons

Answer 4

• ## The meaning of all incidental findings is not known. You could scare the patient for no reason.