Questions to ask at your Genetic Testing appointment

If you are going to speak to a health professional about genetic testing, what do you ned to ask?

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. In addition you might have some questions that are not on this list that you want to ask. Write them down and take them with you to your appointment so that you don’t forget.

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.

  • Why have I or my child been referred to see a genetics specialist?
  • Why do I or my child have this condition?
  • Can you tell me about the condition I or my child is being tested for?
  • How common is this condition?
  • What might it be like to live with this condition?
  • Is there any treatment for this condition?
  • If so, is it expensive and will I have to pay?
  • Is everybody with this condition affected by it in the same way?
  • How is the condition passed from one generation to the next?
  • If I have another child what is the risk that they will have the condition?
  • Where can I find more information about the condition?

What will actually happen when I or my child takes the test?
Do other members of my family need to be tested?
What will the test results tell me?
Are there any risks in taking the test?
Does it hurt?
How accurate is the test result?
Will I definitely get a test result?
How long will it take to get the test results?
How will I receive the test results?
Is the test going to cost me anything?
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?
Who will the test results be given to?  

Will the results of the test affect other members of my family?
If so, should I discuss the test with them first?
How might the results of the test affect me and my family emotionally?
Who should I tell about the test results (e.g. family members, work colleagues, teachers)?
Will the results affect my insurance?
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)
Who will be the one to explain the results to my child and/or relatives?
Is there any written information that you can give me, which will help explain the situation to my child and/or relatives?
Are there any support services or patient organisations I can contact?
What other health professionals should I get in contact with?
If I think of anything else I would like to ask, can I contact you again?
If so, how?

Why have you been referred to see the specialist? Some of the reasons for being referred include:

  • Because there is a genetic condition that happens in your family or your partner’s family.
  • You or your partner have a child with learning difficulties, developmental delay or health problems.
  • Your doctor thinks there may be a genetic link.
  • You or your partner have a genetic condition that might be passed on to your children.
  • You have had another type of test that is done during pregnancy (such as an ultrasound, nuchal translucency scan or blood test). It shows that there is an increased risk that your baby has a genetic condition
  • You and your partner are close relatives and would like to have a baby.

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.

How will you be helped?
There are several ways that the specialist may be able to help you.

Some of these are: 

  • Explaining the types of test available that will help confirm a diagnosis.
  • Making or confirming a diagnosis.
  • Providing information about the condition and how it is passed on.
  • Discussing the risk that you may be affected by the condition in the future.
  • Discussing the risk that future children may be affected with the condition if it already occurs in your family.
  • Talking about ways of living with the condition and the medical, psychological and social support available to you.
  • Answering any questions you may have about the condition diagnosed.

Before your appointment It can be This is of course not always possible to give these details. 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

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