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Heredity research

Heredity research

Genetic testing, also known as genetic testing or DNA testing, can be used in ADOA. For one there is no doubt about it, clarity is paramount, genetic research must be done. Not everyone thinks that way, because why are you actually doing genetic research? Are there also disadvantages? This page describes the advantages and disadvantages of genetic testing. At the very bottom are personal stories and reflections.

ADOA usually runs in families. When one person has proven ADOA, it is often obvious that family members with the same complaints also have ADOA. You may then wonder what the added value is of genetic testing. If you like clarity, testing might help. The costs of this fall under the health insurance after referral.

In some cases a new mutation arises, or the parents do not have it, but the child does. In that case, the doctor may not immediately come up with ADOA and genetic testing may be important for making the diagnosis. There is no treatment for ADOA yet, but having the diagnosis does provide more clarity about the course of the disease.

The chance that a child will get ADOA from his or her parent with ADOA is 50%. Today there is the possibility to preimplantation genetic test (=embryo selection). To qualify for this, the diagnosis must be confirmed by genetic testing.

It has been found that no complaints occur in 5% of people who carry the wrong OPA1 gene. However, this gene can be passed on to future children. When ADOA occurs in the family, this may be a reason to do a genetic test, even if you do not have any complaints yourself.

It is important to know that having a predisposition to a hereditary condition may have consequences for applying for life insurance and/or disability insurance. Within our patient group, this has also proven to be the case with disability insurance. An appointment with the clinical geneticist has no influence on this. Here contains more information on this topic.

Kim Warink
“I knew at the age of 19 that I had ADOA. This was determined without genetic testing. I am glad that my parents did not do genetic testing on me in the past, because if I had known about the diagnosis at a young age, I might not have gone into medicine. However, if I wish to have children, I would like to do this via PGT, in which case genetic testing will be necessary. Even if clinical trials start, I will test myself to have a chance to participate in them.”
Fredy Marneef
“I have been tested. The choice was for my children to know for them as to the degree of heredity. I also gave them the choice whether they wanted to test themselves or not. Since the 2 eldest are already adults and now have a child's wish. In fact, they are now both pregnant.”
Hey Smith
“So far I have not felt the need to have it investigated. Diagnosis was made in a different way years ago and I didn't even know it was possible until last year. Then a family member had genetic testing done and that indeed revealed the mutation on the OPA1 gene. The reason for me to do it in the future: Contributing to research, research opportunities, etc.”
Diana Islander
“We had our children tested because our youngest daughter saw less and the doctor didn't know what it was, because her optic nerve looked good and our eldest son was already familiar with ADOA and so was I, all 3 children have been tested. Are now in the family figuring out who else has it. My mother and aunt have it too, but no complaints. My cousin is also getting tested, because she has a son who also has less vision.”