A genetic counselor is consulted by a young man who is worried about developing Huntington’s disease, an inherited disorder caused by a dominant allele of a single gene. The young man explains that his cousin was recently diagnosed with Huntington’s disease, and the news has caused him to consider his own risk of developing the disorder.

Which of the following questions will best help the genetic counselor to evaluate the risk of the young man developing Huntington’s disease and transmitting it to his children?

Question

A genetic counselor is consulted by a young man who is worried about developing Huntington’s disease, an inherited disorder caused by a dominant allele of a single gene. The young man explains that his cousin was recently diagnosed with Huntington’s disease, and the news has caused him to consider his own risk of developing the disorder.

Which of the following questions will best help the genetic counselor to evaluate the risk of the young man developing Huntington’s disease and transmitting it to his children?

BlackTom AI · Accepted Answer

In this scenario, the genetic counselor is assessing risk for Huntington’s disease, which is caused by a dominant allele in a single gene. The most informative initial question is to establish whether there is a family history of the disease, because this directly supports the pattern of inheritance and the probability that the young man carries the pathogenic allele.

Option: 'Were your parents or grandparents ever diagnosed with Huntington’s disease?' This question targets lineage-specific information that helps determine risk for an autosomal dominant condition. If a close relative has been diagnosed, it increases the likelihood that the pathogenic allele is present in the family and could be transmitted to the man’s offspring. Conversely, if no affected first- or second-degree relatives are known, the risk may be lower, though not zero due to possible de novo mutations or unrecognized history. The counselor can then tailor the discussion about testing options, penetrance, and reproductive implications based on the presence or absence of affected relatives.

Why this is the best starting question: Huntington’s disease has a well-established autosomal dominant pattern with high penetrance, so family history is the most informative single piece of information for risk assessment. It directly informs probability estimates, testing decisions, and counseling about transmission.

Why other potential questions (if present) would be less helpful: While questions about current symptoms, age of onset, or unrelated medical history might be useful later, they do not directly establish inheritance risk or transmission probability as efficiently as confirming affected relatives in the family. Without family history, the counselor cannot accurately calculate risk or discuss testing implications for the man and his children.

Overall, asking about diagnoses in parents or grandparents captures the key information necessary to evaluate heritable risk for this autosomal dominant condition and guides subsequent counseling steps.

APBIO141-031 with labs Unit 5 Test

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