Genetic Counseling: What to Expect Before and After Genetic Testing

📚 Quick Study Guide

• 🧬 Purpose of Genetic Counseling: To assess individual or family risk for inherited conditions, understand testing options, and provide support.
• 🗓️ Pre-Test Counseling: Includes family history review, risk assessment, discussion of potential benefits and limitations of testing, and informed consent.
• 🧪 Types of Genetic Tests: Includes single gene tests (e.g., for cystic fibrosis), chromosomal analysis (e.g., for Down syndrome), and genomic testing (e.g., exome sequencing).
• 📊 Post-Test Counseling: Involves explaining test results (positive, negative, or variant of uncertain significance), discussing implications for the individual and family, and providing resources for further support and management.
• 🤝 Ethical Considerations: Addresses privacy, confidentiality, potential discrimination, and reproductive decision-making.
• 💡 Key Professionals: Genetic counselors, medical geneticists, and other healthcare providers trained in genetics.
• 💰 Cost and Insurance: Genetic testing costs vary; understanding insurance coverage and potential out-of-pocket expenses is important.

Practice Quiz

1. Question 1: What is the primary goal of pre-test genetic counseling?
   1. A. To perform the genetic test.
   2. B. To prescribe medication.
   3. C. To assess risk and discuss testing options.
   4. D. To diagnose a condition without testing.
2. Question 2: Which of the following is NOT typically discussed during pre-test counseling?
   1. A. Family history.
   2. B. Potential benefits of testing.
   3. C. Limitations of testing.
   4. D. Specific treatment plans for positive results.
3. Question 3: What does a "variant of uncertain significance" (VUS) result mean?
   1. A. The test is definitely positive.
   2. B. The test is definitely negative.
   3. C. The variant's impact on health is unknown.
   4. D. The test failed and needs to be repeated.
4. Question 4: Which ethical consideration is most relevant in genetic counseling?
   1. A. Ensuring fast results.
   2. B. Maintaining patient confidentiality.
   3. C. Guaranteeing a cure.
   4. D. Avoiding all costs.
5. Question 5: Who typically provides genetic counseling?
   1. A. Only medical doctors.
   2. B. Genetic counselors and medical geneticists.
   3. C. Only nurses.
   4. D. Only laboratory technicians.
6. Question 6: What is the purpose of post-test genetic counseling?
   1. A. To prepare for the genetic test.
   2. B. To explain test results and discuss implications.
   3. C. To prescribe medications.
   4. D. To schedule future appointments.
7. Question 7: Which type of genetic test analyzes an individual's entire genome?
   1. A. Single gene test.
   2. B. Chromosomal analysis.
   3. C. Exome sequencing.
   4. D. Targeted mutation analysis.