Personal Genomics

Question 1

Diagnostic Testing

Answer 1

Identifies whether an individual has a certain genetic disease.
Detects specific gene alteration, not able to detect severity or age of onset.
Diagnosis for Huntington’s and Cystic Fibrosis

Question 2

Predictive Testing

Answer 2

Determines whether an individual has increased risk for a particular disease. Tests probability and therefore less definitive since disease susceptibility can be influenced by other factors. Good for identification of breast and colorectal cancer.

Question 3

Screening genetic tests

Answer 3

Performed on large segments of the asymptomatic population to determine whether they are in need of more definitive testing to diagnose a genetic disease.
Ex: Newborn screening and noninvasive prenatal screening.

Question 4

Pharmacognetics

Answer 4

Identifies variations in individual’s genetic make-up to determine whether a drug is suitable for that patient. If yes, understanding the best and safest dose.

Question 5

Predictive

Answer 5

Whole genome and whole exome sequencing of germline DNA

Question 6

Diagnostic Tumor Analysis

Answer 6

Guardiant 360 Ex
Examines genetic marker testing to determine which genetic markers are driving tumor growth. Good for assessing best therapies.