Questions to Ask

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Review the following 'Questions To Ask' about genetic testing so you're prepared to discuss this important health issue with your health care professional.

General

1. Could my symptoms be caused by a genetic disorder? Is testing available?

2. Are you experienced in diagnosing and treating genetic disorders? If not can you make a referral?

3. How accurate is this test?

4. What are the risks of the test?

5. What information will come out of the test?

6. What will a positive or negative result tell me?

7. Is an uncertain result possible, and what would that mean?

8. What are my options for preventing or treating the disease if a mutation is found?

9. What other family members might be affected?

10. How do I broach the subject with them?

11. Could this disorder affect my children before they're grown? Should they be tested?

12. What measures are in place to protect my privacy?

13. How often have you performed the test?

14. How experienced is the lab in performing this test?

15. How long will it take to get results back?

Cancer Predisposition Testing

1. Does my family history suggest a pattern of inherited cancer?

2. Is there a test available to determine which family members are most at risk?

3. What are my chances of developing cancer if I test positive for a mutation?

4. How does my risk change with age?

5. What are my options if I test positive?

6. How frequently should I have screenings?

7. Are preventive measures such as surgery or pharmaceuticals available?

Carrier Screening And Preconception Counseling

1. Based on family history and ethnicity, which carrier tests should my partner and I consider?

2. What criteria are you using to determine which tests are right for us?

3. Would other centers recommend a different lineup of tests?

4. What are the options if a result suggests the possibility of having a child with a genetic disorder?

Prenatal Testing

1. How early or late in my pregnancy can this test be performed?

2. What are the risks of the test?

3. Is this a risk screening test or a diagnostic test?

4. What are the options if the test finds a problem?