Genetic Risk Assessment & Counseling Flashcards

What is the first step in genetic risk assessment?

Answer: Collect detailed family history.

Collecting a comprehensive family history helps identify patterns of inherited conditions.

Which pedigree symbol represents a female in genetic counseling?

Answer: Circle

In pedigrees, circles are used to represent females.

What is the term for a person who carries a gene for a genetic disorder but shows no symptoms?

Answer: Carrier

A carrier has one copy of a mutated gene but does not exhibit the disorder themselves.

Which of the following increases the accuracy of a genetic risk assessment?

Answer: Three-generation pedigree with diagnosis details

Accurate risk assessments depend on three-generation family histories with health details.

What does autosomal dominant inheritance imply?

Answer: One copy of a mutated gene can cause the condition.

A single copy of the mutated gene from either parent can cause the disorder.

Which condition is typically associated with autosomal recessive inheritance?

Answer: Cystic fibrosis

Cystic fibrosis is a classic example of an autosomal recessive condition.

What is consanguinity in genetic counseling?

Answer: Biological relationship between partners

Consanguinity refers to parents who are biologically related, increasing genetic risks.

Why is the proband important in risk assessment?

Answer: They initiate the family health analysis.

The proband is the starting point for analyzing the family's genetic history.

What is the purpose of using a risk calculator in genetic counseling?

Answer: To calculate genetic risk probabilities

Risk calculators help quantify the likelihood of passing on or developing a genetic condition.