Gene, genetics and genetic medicines in gastroenterology: Current status and its future

Table 5 Various types of clinical genetic testing

Classification	Type	Purpose
Mutation origin	Germline testing	Detects inherited mutations; used for familial risk, carrier status, and predisposition
	Somatic testing	Identifies acquired mutations in specific tissues (e.g., tumors); guides cancer therapy
	Mosaicism testing	Identify mosaicism in FAP, IBD
Clinical purpose	Diagnostic testing	Confirms or rules out a specific genetic disorder in symptomatic individuals
	Prognostic testing	Predicts disease course, severity, or likelihood of complications
	Predictive/screening	Identifies asymptomatic individuals at risk of developing a genetic disorder
	Carrier testing	Identifies individuals who carry one copy of a gene mutation (relevant for recessive conditions)
	Pharmacogenetic testing	Assesses genetic variants affecting drug metabolism and response
	Somatic/tumor profiling	Detects actionable mutations in cancer cells to guide targeted therapy and prognosis
	Newborn screening	Early identification of treatable genetic disorders in neonates

FAP: Familial adenomatous polyposis; IBD: Inflammatory bowel disease.