Christine de Die: "The first healthy PGT baby was a true miracle"
She is sometimes asked: How did you do it? Forty years of investing in a centre for clinical genetics at the Maastricht hospital. The only centre in the Netherlands where embryos may be examined for genetic disorders, in order to have a healthy child. "Persevere," is the simple answer. "It wasn't always fun, or easy. Nowadays, work has to be 'your passion,' but sometimes it takes some effort to persevere and later it becomes your passion again. You shouldn't give up too soon, because then it becomes nothing." Prof. Christine de Die on her own development, that of clinical genetics and the first healthy-born babies 25 years ago, who recently returned to her doorstep.
The occasion for the interview is the fact that Christine de Die, anticipating her retirement later this year, has had her last patient contacts. Starting in January, she has a three-month leave of absence: an apartment in Paris has been rented where she will stay with her husband to switch off from her job.
After that, she will still work one day a week until she reaches retirement age on 1 July. "Then you get laid off. I myself have always said that pensionados should not linger in the workplace, so then I have to lead by example," she smiles. "Besides, my knowledge of this field won't last for years. Things change so quickly." She witnessed that herself in the last forty years.
Not giving up too soon
The choice to study Medicine was perhaps obvious with two doctors as parents. Her father was a neurologist and later a psychiatrist; her mother actually had to sit at home after marriage but did not accept that. "She managed, with great difficulty, to hold down a job as a doctor in the consulting office, which in those days was not a given for a married woman with six children. That's kind of how we were raised: don't give up too quickly."
Christine was the oldest of the six and, like her youngest brother, chose medicine. "I wanted to be a 'doctor,' no idea what kind exactly. Unemployment was huge when I graduated, so I was long happy to be able to train as a family doctor in a village near Utrecht. Within a year I found out it wasn't for me. Too volatile and I was looking for more depth."
Sometimes a patient would come in with a special condition, which she remembers to this day. "You then had to refer that one on to the hospital, get a diagnosis later, I found that frustrating. However, I did really enjoy being in the middle of the family dynamics in such a village. I always found family research fascinating, even at the age of eight, as I found out the other day when I found an old diary. I had drawn out family trees of royalty and the like in it."
A call from Maastricht
In the early 1980s, clinical genetics was a field that was still in its infancy. That adventure was attractive, as was moving to a completely different region. "I applied to Nijmegen, where a centre for clinical genetics was being established. I was just too late, but they pointed me to Maastricht, which they were working with."
She put a letter in the mail, after which there was silence from Maastricht. Until the head of the department, Prof. Dr. Joep Geraedts, called on the phone one day. "He was expecting me for a job interview that day, had I not received the letter? I was living in a dorm, so the letter probably got lost there. 'But I'd really like to come,' I said. Very nice that he called; that defined my career."
She was hired, as an elementary doctor. Her boyfriend at the time and now husband stayed in Utrecht for a while. "That was an adventure; I had never been here before and there wasn't a whole lot to do. While I came from a busy general practice, here everything still had to be set up. I was studying a lot in the library.
After about a year I got a colleague; we started talking with other specialists about our role, brought our offer, which was not very big yet, to the attention of GPs and housewives during lectures, visited the centers for mentally disabled people in the region. If you had a sister with Down syndrome and you wanted to know if it was hereditary, we could answer that question. That was pretty much what we had to offer."
When clinical genetics was recognised as a specialty in the second half of the 1980s, she was also able to start training people AND the technical development of the field accelerated. "DNA research emerged: superbly exciting. We studied ourselves to death." Prenatal diagnostics began: amniocentesis for pregnant women older than 38. And then PGD, Preimplantation Genetic Diagnostics (now PGT, see inset), emerged in the early 1990s. "That was revolutionary and so far from your mind. We went to look in England and started it, the first in the Netherlands."
Prof. Christine de Die-Smulders is professor of PGT at Maastricht University and is one of the founders of the Department of Clinical Genetics at the Maastricht hospital. She worked here for 40 years at the only PGT centre in the Netherlands, and as a trainer for new generations of clinical geneticists.
For the last 15 years, she also held a number of additional positions, such as chairing the Medical Ethical Review Committee (METC) for all clinical scientific research in Maastricht, and as a member and (vice) chair of the Staff Committee (the umbrella body of all physicians). Nationally, she served on a number of ZonMW committees, set up to promote the quality and innovation of health research.
A wonder
She remembers the first days very well. The people who dared to take on this new technology had often been through a lot. "Six miscarriages and two stillborn children, to name one example. They no longer dared to have a spontaneous pregnancy. The preparation process could take up to two years and when these people had a healthy child, it was a celebration! For them as well as for us."
A couple of couples recently contacted her department to ask if she was still working here. They wanted to show her their children, who are now about 20 years old. "Coincidentally, they were all girls. It was a special reunion. 'This doctor made you,' it was said, which of course was not quite true. We were their salvation back then to have a healthy child, though. You see that great gratitude a little less these days. People now take it for granted that all those medical facilities are there, but it was very different back then. It really was a miracle."
Intense discussions
Between 1995 and 2008, the Maastricht hospital helped a number of couples have healthy babies every year. At their own expense, because the government did not want it, yet. Only when embryo selection for certain hereditary conditions was included in the basic insurance package, in 2008, did other hospitals become interested. "Out of customer friendliness, we then started collaborating with Utrecht, Groningen and the AMC, where women could then also go through the IVF process.
Until that time, they had to go to Maastricht for every appointment, which of course is extra burdensome in an already tough process." Which conditions qualify for PGT has always been closely monitored by the national government. There have been intense discussions, especially with political parties that consider human intervention in a pregnancy process undesirable on principle. In 2008, the Balkenende cabinet even nearly fell over it. De Die also always got involved in these discussions in the media. "At the time, there was a lot of demand for PGT to prevent hereditary breast cancer in subsequent generations, but politicians were not keen on it. There was eventually a regulation for it, and thanks to all the media coverage of our center around that debate, applications flew up. "Of course, those parties just didn't want that," she says with a laugh.
She realizes that the debate over PGT can erupt anew with every change of government. Every coalition agreement includes a health care paragraph, with the perennial trio of "abortion, euthanasia and PGT. "The question is always how far you go with these options. PGT is often taken to the extreme in the media, as if we were ever going to select for intelligence or eye color, I think that's really a non-discussion. But where in the early years we mainly selected for serious diseases from which children would die early, soon the demand came from couples with a disease that doesn't manifest itself until later, such as Huntington's or hereditary cancer."
While for diseases from which children die young it is an acceptable option for most couples to terminate the pregnancy after prenatal testing, it is different in such cases, De Die knows. "If you yourself have a very burdensome condition that you would like to spare your child, terminating a pregnancy is actually a denial of your own existence. If your parents had done that, you would never have been there. That's much harder." Meanwhile, 75% of the indications selected for with PGT are such conditions.
PGT
Preimplantation Genetic Testing (PGT) - also known as Preimplantation Genetic Diagnostics (PGD) - is the medical term for embryo selection. Couples with a greatly increased risk of having a child with a serious inherited disorder or who have a high risk of miscarriage due to a chromosomal abnormality are eligible for it.
Through IVF treatment (that is, in a test tube) fertilisation takes place. One or more cells are then taken from each embryo. These biopsies are examined in the laboratory of the PGT center Maastricht UMC+ for the hereditary disorder for which the treatment has been requested. Only the embryo without the hereditary predisposition for this disease is placed in the uterus. The chance of a successful pregnancy is currently about 30%.
Looking back and forward
Looking back, she has great satisfaction with all that has been built in Maastricht. Looking ahead, she worries about the costs of current health care ("unsustainable, but how do you turn that around?") and the defensive atmosphere ("everything must be excluded, while the patient does not necessarily benefit from even more diagnostics, they just want a solution").
To young staff, especially women, she tries to pass along the message that they should guard their limits. "Many young women with families are in a split. I myself have three children, had yet to get my doctorate while I was a specialist, but my husband was a sociologist and at home a lot, so that made a difference. I try to encourage employees to stop for a moment now and then, especially when something is complicated. Think for a moment," I often say. By guarding your limits, you keep fun in your work, because we have a wonderful profession, but if you are overloaded, nothing is wonderful anymore."
She herself has never had a plan for her career, and so there is no plan for her retirement. She enjoys working in the garden and cycling with her husband. "I think: we'll see how it goes. You just have to adapt a little bit to the situation. Something new always comes your way."
This news item is previously published by Maastricht UMC+.
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