EXAM QUESTIONS AND CORRECT ANSWERS
(VERIFIED ANSWERS) Q&A 2026 |INSTANT
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1. Which of the following best describes the role of a genetic
counselor?
A. Diagnose genetic conditions independently
B. Provide information and support to patients regarding
genetic risks
C. Prescribe medications for genetic disorders
D. Conduct surgical interventions
Rationale: Genetic counselors are trained to interpret genetic
testing results, assess risk, and provide guidance, not diagnose
or prescribe.
Answer: B. Provide information and support to patients
regarding genetic risks
2. When taking a family history, which is the most critical
information to collect?
A. Age at diagnosis of family members with medical conditions
B. Favorite hobbies of family members
C. Family members’ educational background
D. Family income levels
,Rationale: The age at diagnosis can influence genetic risk
calculations and recurrence risk assessments.
Answer: A. Age at diagnosis of family members with medical
conditions
3. A patient tests positive for a BRCA1 pathogenic variant.
What is the most appropriate initial counseling
recommendation?
A. Lifestyle modifications only
B. Discuss cancer risk, management, and surveillance options
C. Immediate chemotherapy
D. Ignore the result if asymptomatic
Rationale: BRCA1 variants significantly increase cancer risk;
counseling should include surveillance, prevention, and
management options.
Answer: B. Discuss cancer risk, management, and surveillance
options
4. What is the primary ethical principle guiding genetic
counselors when discussing testing options?
A. Beneficence only
B. Autonomy of the patient
C. Non-maleficence only
D. Mandatory testing
,Rationale: Genetic counseling emphasizes patient autonomy,
allowing informed decisions without coercion.
Answer: B. Autonomy of the patient
5. Which inheritance pattern is described by a gene variant
that appears in every generation and affects males and
females equally?
A. Autosomal recessive
B. Autosomal dominant
C. X-linked recessive
D. Mitochondrial inheritance
Rationale: Autosomal dominant conditions typically appear in
each generation with equal sex distribution.
Answer: B. Autosomal dominant
6. Which type of genetic test analyzes the entire exome of a
patient?
A. Karyotype
B. Whole-exome sequencing
C. PCR for a single gene
D. FISH
Rationale: Whole-exome sequencing targets all coding regions
(exons) of the genome.
, Answer: B. Whole-exome sequencing
7. In genetic counseling, a pedigree chart is primarily used to:
A. Predict patient height
B. Identify inheritance patterns and risk assessment
C. Record immunization history
D. Track dietary habits
Rationale: Pedigrees visually summarize family history and help
determine inheritance patterns.
Answer: B. Identify inheritance patterns and risk assessment
8. Which genetic disorder is most commonly associated with
trinucleotide repeat expansion?
A. Sickle cell anemia
B. Huntington disease
C. Down syndrome
D. Phenylketonuria
Rationale: Huntington disease is caused by CAG repeat
expansions in the HTT gene.
Answer: B. Huntington disease
9. What is the most common method for detecting
chromosomal aneuploidies prenatally?