What would you do if you found out that there was a hereditary disease in your family? Do you get tested or not? It turns out that more than half of the people refrain from an investigation. This leads to tensions within families and concerns for heredity doctors.
“We see that only thirty to forty percent of the eligible family members undergo blood tests. What about the sixty percent who do not show up? That worries us”, says clinical geneticist Jan Oosterwijk of the UMC Groningen. .
He says that people who are diagnosed with a hereditary disease receive a ‘family letter’ in order to inform others who may be at risk. “It clearly states what it is about. We ask that person to distribute that letter in the family.”
But it often happens that family members do not receive the letter or do not properly understand the information from the letter, says Oosterwijk. “That someone thinks: I am already 60 years old and have no heart complaints, so why should I have myself examined. But that is a decision on incorrect grounds.”
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Such a letter is also circulated in Gerda’s family. The PLN gene is found in her mother Jenny, who has been a heart patient for years. In fact, everyone in the family is at risk, but only Jenny’s daughters end up getting tested.
Gerda and her sisters appear to carry the gene, but their brother does not want to be tested. “I now feel good and vital. Then I would rather leave it in the dark than being tested. Because then I will know and then?”, He says in a telephone conversation with his sister.
“But what if you have children? That was a motivation for me to test”, says Gerda. Her brother: “I may do it in the future, of course I keep the letter well, but now I will not do it. You want a little more security, I can live well with uncertainty.”
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Gerda (left) and her sister Christa
News hour
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The hereditary PLN gene is also discovered in the family of Ron and his sister Karin. They receive a letter from an aunt in Friesland, but neither of them have been tested so far. They say they feel good and don’t need it.
“There is no cure, no cure,” says Ron. “Then you will be examined preventively and they may tell you what you can and cannot do anymore.” His sister Karin says: “Maybe it is a bit ostrich policy, that you think you have nothing and just keep going.”
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Cardiac arrest on the football field
Because even when you feel good, something can happen. Michel suffered a cardiac arrest at a young age, in the middle of the football field. “Fortunately there was someone present who was able to resuscitate me in time. That’s why I’m still here, but it took some doing.”
In the hospital it is discovered that Michel has hereditary heart disease. Until then, nothing was known about this in his family. When Michel’s parents are subsequently tested, his father turns out to be a gene carrier. He also sends a family letter, but not everyone is tested.
Henk calls cousin Anna, who does not consider a test necessary:
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What if your family doesn’t want to be tested for a hereditary disease?
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Hereditary physicians now also want to approach family members directly if necessary. They have made a new guideline in which they play a more active role in informing about a hereditary disease. A lot of discussion preceded this. Ethicists, lawyers and the public were also involved.
“This new approach was complicated because before, doctors would never just approach family members with a medical story,” says Oosterwijk. “There was a questionnaire among a thousand Dutch people and they indicated: we want the hospital to play a more active role in this. That was an important message for us.”
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