Which family member should ideally be the first one tested (proband) when performing genetic testing in a family with suspected inherited disease?
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Correct answer: An affected individual
Testing an affected individual first helps identify the causative variant; once identified, targeted testing (cascade testing) can be offered to at-risk relatives — minimizing uncertain or inconclusive findings.
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More Genetic Testing and Counseling questions
- Which of the following statements about direct-to-consumer (DTC) genetic testing is correct in the context of genetic counseling?
- Which of the following is considered an ethical obligation of providers when offering genetic testing and counseling?
- What is “cascade screening” in the context of hereditary disorders and genetic counseling?
- Which of the following is a limitation of genetic counseling services globally, despite increasing demand?
- During pre-test genetic counseling, why must the possibility of incidental (secondary) findings be discussed?
- What is the primary purpose of genetic counseling before genetic testing?