In any case, the researchers from Radboudumc and Maastricht UMC + hope that the discussion about genetic testing of partners will get underway. “Every person has two to four hidden genetic defects. These defects do not mean anything at first,” explains researcher Christian Gilissen of Radboud university medical center. “But if your partner has the same genetic defects, there is a 25 percent chance that your child will develop a genetic disorder.”
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There are more than four thousand diseases caused by genetic disorders. One of the most common ailments is cystic fibrosis. Other examples are breast cancer, asthma, obesity and deafness.
Cystic fibrosis
Marja van der Muije’s children both have cystic fibrosis. If she had known earlier that her oldest child had that disease, they would have opted for genetic screening before starting a second child. “We found out with my oldest son at the age of three that he had cystic fibrosis. He was very short of breath and at one point everything he ate came out at the same speed. Then we called the doctor in the middle of the night – eventually we did a sweat test – when it turned out that he had cystic fibrosis. “
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When she found out, she was initially very angry. At that time she was expecting her second son. “If I had known earlier that my oldest son had cystic fibrosis, I would not have started a second one. But I wouldn’t miss him for the world.”
Lung transplant
Her eldest son – who is now twenty-four – is doing well. “But my youngest of twenty-one has a lot of complaints. We went to Erasmus MC with him this weekend for a screening for a lung transplant.”
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Her oldest son is in a relationship and eventually wants children too. For him she is happy that there are now opportunities to do a screening.
Screening
According to the head of Genetics at Radboudumc Han Brunner, the discussion should be conducted as to whether not all couples should be able to do a genetic screening before they start having children.
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“It is rarely done now, but we need to start the discussion whether all couples should be allowed to take such a test as part of our health care program. I want us to have a good conversation about it from all angles.”
“The question is, why do we have to wait for the first child with such a disease to be born before the couples undergo genetic testing?” He continues.
“There are people who say about testing: ‘That would be very bad, because then you would get fewer illnesses and living with a disease can also be very valuable.’ Then I say: ‘The beauty is life, not the disease’. . “
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