- Do you have to inform your relatives yourself when the genetic test is positive?
- Why do you need to inform relatives?
- What is the best way to inform your relatives?
- Knowing that there is a mutation in the family allows for presymptomatic testing
- Knowing that there is a mutation can affect treatment options
Do you have to inform your relatives yourself when the genetic test is positive?
The answer to that question is yes. This is because it is not permitted by law for healthcare, or Eiira Genetics for that matter, to inform your relatives that they too may be carriers.
Why do you need to inform relatives?
All the genes included in the Eiiras genetic test are linked to an increased risk of cancer. Another thing that most of the genes have in common is that mutations in these genes are inherited in an autosomal dominant manner.
This means that if you have tested positive, you have in most cases inherited the mutation from one of your parents. Your parent with the mutation, has in turn inherited it from one of their parents (and so on).
Each individual child of a carrier of a mutation has a 50 percent chance of inheriting the mutation. This means that there will be others in your family who carry the same genetic mutation and who therefore also have an increased risk of cancer.
If no one else in your family has previously tested positive for a mutation, the information that there is a mutation in the family will be unknown in your family.
Most people probably haven't even thought along the lines that there could be a hereditary explanation for the cases of cancer in the family. So in order for your relatives to find out if they are a carrier, they must first be informed that they are at risk of being a carrier.
They can only get this information through you. It is also not enough that only your immediate relatives receive the information - your more distant relatives also need to know.
What is the best way to inform your relatives?
Many people find it difficult to tell their relatives that they too may be carriers of a mutation. Perhaps you have already discussed heredity earlier in the family/family and know that there are people who do not want to hear about the fact that there may be a genetic explanation for the cancer cases in the family.
Getting in touch with more distant relatives is especially difficult if you don't have much contact.
One thing you can do is tell your family members/relatives that you are thinking of doing a genetic test before you have taken the test. Then you can ask beforehand how they feel about being told that there is a hereditary mutation in the family without being aware of the results yourself.
It's good to be well-educated when you talk and explain the benefits of knowing you carry a mutation so that those you talk to understand the consequences of not being told.
Regardless of whether you tuned in beforehand or not, it will likely feel awkward to tell relatives.
If you are tested in healthcare, you can usually get help with getting a letter that you can send to your relatives. This can help, especially when informing more distant relatives.
Knowing that there is a mutation in the family allows for presymptomatic testing
Presymptomatic testing means that healthy relatives have the opportunity to test whether they carry the same mutation identified in you.
If they test positive, they can in many cases get access to preventive measures or control programs for early detection.
Knowing that there is a mutation can affect treatment options
It may also be the case that someone in your family is being treated for a cancer where the mutation status can affect the choice of treatment.
For some people, this may mean choosing a more extensive surgery and for other people it may mean getting access to drugs that target the specific mutation.