What does the concept of “cascade testing” refer to in genetic testing and counseling?
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Correct answer: Testing at-risk relatives after a mutation is found in a proband
Cascade testing involves offering genetic testing to biological relatives of an affected individual (proband) when a pathogenic mutation is identified — to detect asymptomatic carriers or at-risk individuals.
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More Genetic Testing and Counseling questions
- Which component is NOT typically part of a genetic counseling session?
- In the context of genetic testing and counseling, what is a variant of uncertain significance (VUS)?
- Which of the following is a reason a healthcare provider might recommend genetic counseling for adult-onset conditions?
- After receiving a positive result for a pathogenic variant, what role does a genetic counselor play next?
- Why might someone choose to decline genetic testing even when offered after counseling?
- What distinguishes predictive (pre-symptomatic) genetic testing from diagnostic testing?