What would you do if you found out that there is a hereditary disease in your family? Will you get tested or not? It turns out that more than half of the people refrain from testing. This leads to tensions within families, and concerns among hereditary doctors.
“We see that only thirty to forty percent of the eligible family members have blood tests. What about the sixty percent who don’t show up? That worries us,” says clinical geneticist Jan Oosterwijk of the UMC Groningen.
He says that people diagnosed with a hereditary disease are given a ‘family letter‘ to inform others who may be at risk. “It clearly states what it’s all about. We ask that person to distribute that letter in the family.”
But it often happens that family members don’t receive the letter or don’t understand the information from the letter properly, Oosterwijk says. “That someone thinks: I am already 60 and have no heart problems so why should I get tested. But that’s a decision on incorrect grounds.”
Also in Gerda’s family such a letter is sent. In her mother Jenny, who has been a heart patient for years, the PLN gene is found. Everyone in the family is in fact at risk, but only Jenny’s daughters eventually get tested.
Gerda and her sisters appear to carry the gene, but their brother does not want to be examined. “I feel good and vital now. Then I’d rather leave it in the dark than let myself be tested. Because then I’ll know,” he says in a telephone conversation with his sister.
“But what if you have children? That was an incentive for me to test,” says Gerda. Her brother: “Maybe I’ll do it in the future, I’ll keep the letter, of course, but I won’t do it now. You want a little more certainty, I can live well with uncertainty.”
The hereditary PLN-gene is also discovered in Ron’s family and his sister Karin. They receive a letter through an aunt in Friesland, but neither of them has been tested so far. They say they feel good and have no need for it.
“There’s no solution, no medicine,” says Ron. “Then you’ll be examined preventively and maybe they’ll tell you what you can and can’t do.” His sister Karin does say: “Maybe it’s a bit of ostrich politics, that you think you have nothing and just keep going.”
Cardiac arrest on the soccer field
Because even if you feel good, something can happen. Michel had a cardiac arrest at a young age, in the middle of the football field. “Luckily there was someone present who was able to resuscitate me in time. That’s why I’m still here, but it took some time.”
In the hospital it is discovered that Michel has the hereditary heart disease. Until then, nothing was known about it in his family. When Michel’s parents are subsequently tested, it turns out that his father Henk is a gene carrier. He also sends a family letter, but not everyone gets tested.
Henk calls cousin Anna, who doesn’t think a test is necessary:
Heredity doctors now also want to approach family members directly, if necessary. They have drawn up a new guideline in which they play a more active role in providing information about a hereditary disease. A lot of discussion preceded this. Ethicists, lawyers and also the public were involved.
“This new approach was complicated because previously doctors would never just approach family members with a medical story,” says Oosterwijk. “There has been a survey among a thousand Dutch people and they have indicated: we want the hospital to play a more active role in this. That was an important message for us