Genetic Testing FAQ’s and What To Ask Your Doctor

This information has been developed through collaboration with ophthalmologists, geneticists, research clinicians and patient representatives to help you find the answers that you need.

Although the questions are quite general, it is important to remember that every situation is unique, and not all the questions may be relevant to your particular situation. Bring any questions or concerns with you to your appointment – write them down. You might also want to bring your partner or another relative or friend with you. If you need an interpreter, let the department know.

After the appointment, it is likely that you will be sent written information that covers the topics that were discussed. This will help you to remember everything. You might also want to show the written information to other members of your family. Ask the specialist whether written information will be given to you and how soon you can expect it to arrive.

Information provided by you will be treated confidentially and will only be shared with other relatives or health professionals involved in your care with your permission. Relatives will never be contacted without your permission.

Remember, you do not have to take a genetic test, it is your choice. You should only go ahead with genetic testing when you feel sure that it is the right decision for you and your family.

  1. Why have I or my child been referred to see a genetics specialist?
  2. Why do I or my child have this condition?
  3. Can you tell me about the condition I or my child is being tested for?
  4. How common is this condition?
  5. What might it be like to live with this condition?
  6. Is there any treatment for this condition?
  7. If so, is it expensive and will I have to pay?
  8. Is everybody with this condition affected by it in the same way?
  9. How is the condition passed from one generation to the next?
  10. If I have another child what is the risk that they will have the condition?
  11. Where can I find more information about the condition?
  1. What will actually happen when I or my child takes the test?
  2. Do other members of my family need to be tested?
  3. What will the test results tell me?
  4. Are there any risks in taking the test?
  5. How accurate is the test result?
  6. Will I definitely get a test result?
  7. How long will it take to get the test results?
  8. How will I receive the test results?
  9. Is the test going to cost me anything?
  10. Do I or my child have to take a genetic test or are there other ways of finding out the information I want to know?
  11. Who will the test results be given to?
  1. Will the results of the test affect other members of my family and if so, should I discuss the test with them first?
  2. How might the results of the test affect me and my family emotionally?
  3. Who should I tell about the test results (e.g. family members, work colleagues, teachers)?
  4. Will the results affect my insurance?
  5. Will you be giving me written information that goes over what we have been discussing? (You might want to ask for this if this is not standard procedure).
  6. Who will be the one to explain the results to my child and/or relatives?
  7. Is there any written information that you can give me, which will help explain the situation to my child and/or relatives?
  8. Are there any support services or patient organisations I can contact?
  9. What other health professionals should I get in contact with?
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