What is genetic counselling, how does it differ from genetic testing, and when is it considered? What is discussed before IVF and what to ask your doctor.
Genetic counselling is an information process that assesses, through your family and medical history, the likelihood of an inherited disease or chromosome change, explains to you the purpose and limits of the possible tests, and leaves the decision to you. It is not itself a test. A test may or may not be recommended; not having a test is also one of the options discussed. The results do not mean an assurance for pregnancy or birth. In reproductive medicine it is generally offered before IVF, while embryo testing (PGT) is being planned and while its results are being interpreted. At the consultation you can ask which test is considered for you and what the results can and cannot show.
Are genetic counselling and a genetic test the same thing?
A genetic test is the search for a particular change in a sample. Genetic counselling, on the other hand, covers the consultations that help you decide whether a test will be done: your family and medical history is reviewed, what the possible test looks for and does not look for is explained, and the result that comes out is interpreted. For this reason, at the end of a counselling consultation, a test may or may not be done.
Does counselling decide for you?
It is recommended that counselling be non-directive and cover all the reproductive options before you. Counselling does not decide for you; it aims to provide the person who will decide with the information needed.
Is the scope of genetic counselling the same for everyone?
Genetic counselling is not needed with the same scope for every couple; the need is individual and your doctor determines it. The following are among the situations in which counselling can be considered.
What is assessed if there is an inherited disease or chromosome change in your family?
If a known inherited disease or chromosome change exists in your close relatives, the likelihood of its being passed to later generations is assessed through your family tree and medical records. This assessment does not make a diagnosis; it sheds light on which investigations could be considered.
Do only couples who are relatives receive counselling?
Marriage between relatives is only one of the situations in which counselling can be considered. Couples who are not related may also ask for a consultation because of their family history, the results of previous pregnancies or a test recommended to them. You can also ask in this consultation whether carrier screening before pregnancy is on the agenda for you.
What does counselling provide in a history of pregnancy loss or failed IVF?
Having had such a history can be a tiring process. Whether a genetic cause will be investigated, and which investigations will be considered, varies from person to person. Counselling makes it easier to understand what these investigations can and cannot show.
How are your family history and medical records used at the consultation?
The family history, the course of earlier pregnancies and the current medical records form the basis of the consultation. The likelihood of a change appearing or recurring is assessed with this information.
What limits of the test options are explained?
What the recommended test looks for and does not look for, and how reliable its result is, are explained. No test screens for everything; the result may be wrong or uncertain.
How are the option of not having a test and consent handled?
Informed consent is the approval you give after understanding the purpose, the possible results and the limits of the test. It is recommended that this consent be taken in writing. According to current views, the consent consultation is expected to cover the option of not having the test as well as the risks, benefits and limits.
How are the next steps discussed when the result is out?
When the result is out, what it means, what options there are and the next steps are discussed together. Whether the result will be shared with family members can also be addressed at this stage.
What is discussed in counselling when embryo tests are being planned?
The purposes of the genetic tests done on the embryo in the IVF process differ: there are tests that look at chromosome number, tests that look for a single-gene change and tests aimed at a structural chromosome change in a parent. The state of evidence and limits of each are assessed separately. In counselling, what the purpose is in your situation, what the test cannot show, and how results that are hard to interpret, for example a mosaic result, will be handled are discussed.
What do the results mean, and what do they not mean?
The statement "no genetic problem was detected" covers only the changes that were looked at; unexpected or uncertain findings may also come out. The result should be read with its limits and with the doctor's interpretation.
Can you get support if you feel anxious during the process?
Genetic information has meaning not only for the person but also for family members. Feelings of anxiety, guilt or uncertainty may be experienced in the process. If you feel intense anxiety, you can contact your doctor or a mental health professional.
What questions can you ask your doctor?
- What is the purpose of the recommended test, and what does it not look for?
- How is the possibility of a wrong or uncertain result handled?
- If an unexpected finding comes out, will this information be given to me?
- With whom are the results shared, and how are the records stored?
- Is not having the test an option, and how does my plan change in that case?
- Is carrier screening on the agenda for me?
- Does the test have an additional cost?
Frequently Asked Questions
What information and documents should I bring to the consultation?
Information about diseases or chromosome changes known in close relatives, the results of earlier pregnancies and, if available, earlier genetic or medical test reports are useful. The family and medical history is the basic source of information for counselling; gathering them beforehand makes the consultation easier.
What limits are explained in counselling before an embryo test?
At the consultation, subjects such as the likelihood of pregnancy and the risk of multiple pregnancy, the limits and margin of error of the test, mosaicism, what will happen to an embryo that cannot be diagnosed, the possibility of having no embryo that can be transferred, and the option of confirmation before birth in pregnancy are expected to be addressed. All of these are subjects you can ask about before deciding on the test.
Does counselling continue after the embryo test?
Yes. It is recommended that counselling be offered after PGT as well as before it, and that the options for prenatal diagnosis be explained to everyone who conceives after PGT. If a transfer is being planned with a mosaic result, it is recommended that genetic counselling and prenatal testing options be offered before and after the transfer. That is, counselling does not have to be a one-off consultation.
Must I definitely have a test at the end of counselling?
No. At the end of the consultation a test may or may not be done. The option of not having the test is part of the consent consultation.
Does counselling decide for me?
No. The aim is to present to you all the reproductive options and the information needed. It is recommended that counselling be non-directive.
If we are not relatives, can we ask for genetic counselling?
Yes. Counselling can be considered because of your family history, the results of your earlier pregnancies or a test that has been recommended.
Does assessing the family history make a diagnosis on its own?
No. The assessment made through your family tree and medical records helps with which investigations could be considered; it does not make a diagnosis on its own.
Does a genetic test screen for everything?
No. Every test has its scope and limits. The result may be wrong or uncertain; it gives no assurance about changes that were not looked at.
Is finding no problem a guarantee of a healthy pregnancy and birth?
No. The result covers only the changes looked at. It does not mean an assurance for pregnancy or birth; it should be read with the doctor's interpretation and with its limits.
Can I ask about carrier screening at this consultation?
Yes. You can ask at the consultation whether carrier screening before pregnancy is on the agenda for you.
If I feel intense anxiety because of genetic information, can I get support?
Yes. Feelings of anxiety, guilt and uncertainty may be experienced. If you have intense anxiety, you can contact your doctor or a mental health professional.
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