Specific circumstances in which single gene testing might be useful
What are some specific circumstances in which single gene testing might be useful?
- Pharmacogenetics—to determine drug efficacy (e.g., CYP2C19 in clopidigrel oxidation), drug toxicity (e.g., HLA-B∗1502 in Stevens–Johnson syndrome susceptibility with carbamazepine, TMPT in bone marrow suppression with azathioprine)
- Diagnosis and presymptomatic genetic testing (e.g., PS1/PS2/APP in familial and APOE4 in sporadic AD, HD in Huntington’s disease)
- Prognosis (e.g., dystrophin in Duchenne’s muscular dystrophy, SCN1A in Dravet’s syndrome)