Benefits and risks of genetic testing

Type	Purpose	When used	Examples/benefits and harms
Diagnostic testing	To provide definite diagnosis	In a patient with an existing condition	Turner syndrome 45,X
			Accurate diagnosis can lead to proper treatment
Predictive testing	To provide risk assessment for presymptomatic states	Prenatal for reproductive choice decision	Presymptomatic intervention may delay onset
		For adult risk assessment
Presymptomatic testing	To look for the presence of a gene mutation with complete penetrance, that is, having the mutation always leads to having the disease	In families with disease, for adults who choose to have testing after counseling	Huntington disease
			Finding of mutation may lead to prognostic information for individual affecting life planning; negative test may provide relief. Harms include worry, stigmatization, labeling; possible "survivor guilt" or ostracism if negative in family with others positive.

Risks_benefits_genetic_test.htm

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