A controversial procedure that lets would-be parents test embryos for certain genetic defects will soon be allowed in special cases in Germany. What does this mean for society?
Do people have the right to a healthy child? "No," says Tina Stark, "they don't."
Her daughter Maya, an eight-month-old with strawberry blonde hair, is lying on the changing table in front of her. It's Tuesday, and Stark has to replace the dressing on her daughter's central venous catheter. She puts on a surgical mask, disinfects her hands and removes the adhesive bandage on Maya's chest. "What we want is not a healthy child," says Stark. "We want a child that doesn't have this disease."
Maya has congenital nephrotic syndrome. Her kidneys allow proteins to pass through her body unused. Nutrients flow through the child like water, which is why she receives infusions at night. Maya needs almost a dozen medications and nutrient solutions to survive. The placement and removal of the tubes takes four hours a day. The Starks have yet to find a nursing service that does this well.
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Maya needs to gain weight. She needs to add about nine kilograms (20 lbs.) of body weight to receive a donor kidney, but only weighs seven-and-a-half kilos now. Maya won't live much longer without a new kidney.
Stark, 35, is a teacher, and her husband Andreas, 36, is an anesthesiologist. When she became pregnant with Maya, they chose not to have prenatal screening procedures, such as a nuchal scan and amniotic fluid test. "We would have kept the child in any case, so we didn't need to know anything," say the Starks.
Today they are certain that the congenital disorder would not have been detected in a screening. Only one in 100,000 children in Germany is born with the rare syndrome. The outlook for the Starks, however, is completely different. If they have another baby, there is a one-in-three chance that it will have the disease, which is why they recently visited the Medical Genetics Center (MGZ) in Munich.
A Legal Gray Zone Elke Holinski-Feder, 51, founded the MGZ 12 years ago. A doctor specializing in human genetics, she has degrees in medicine and chemistry and is a professor at the Ludwig Maximilian University of Munich. "Do you know what advice these families are usually given?" she asks. "Try it, and if it goes wrong, terminate the pregnancy!" It isn't the sort of advice Holinski-Feder wants to give her patients. She offers families a different solution instead.
The procedure on which Tina and Andreas Stark are pinning their hopes is called pre-implantation genetic diagnosis, or PID, where an embryo is tested for possible life-threatening genetic defects before it is implanted into a woman's uterus. The procedure could be used to rule out congenital nephrotic syndrome.
The MGZ has been performing PID since the summer of 2010. Holinski-Feder has already provided the genetic test to 82 couples, but until now she has been operating in a legal gray zone.
The legal situation was long unclear. Fearing criminal prosecution, many German doctors did not offer the procedure, shamefacedly sending couples to the UK, Belgium or the Czech Republic.
In 2006, a Berlin doctor reported himself to the authorities. He wanted the country's highest judges to issue a ruling on PID. In 2010, the Federal Court of Justice declared the genetic test permissible in exceptional cases, and a year later the German parliament, the Bundestag, amended the country's Embryo Protection Act.
Last Friday the Bundesrat, the legislative body that represents the German states, approved a rule regulating how the procedure is to be used in practice. If it goes into effect, PID will be permitted in Germany. The German states will then have one year to implement the rule.
What is Normal?
It's been a long road to reach this point. In their conception of what life means and how much control humans should be allowed to exert over it, many critics think this kind of genetic screening is a step too far.
Medical ethicist Axel Bauer writes about his concerns in an article for an initiative called "Stop PID." He fears "that the possibilities PID offers will significantly reduce the range of 'normality' that will still be tolerated in our society in the future." Hubert Hüppe, the federal government's commissioner for the disabled, says critically: "In the future, human life will only exist after quality control."
Elke Holinski-Feder exhales deeply. Then she says: "I have a feeling that many of those who pass judgment on PID don't know what we are doing here."
When doctors, philosophers and politicians talk about PID, they are usually talking about the future. What happens when man begins to qualitatively assess the life he creates in a Petri dish? Is he toying with fate? Playing God? Is he helping? And where do his limits lie?
Holinski-Feder prefers to talk about the present. She is blonde and petite, and there are photos of her children in her office. When her students ask her: "When does human life begin?" she responds with a series of questions: "Imagine you were asked to place a picture of yourself as a child on the shelf. Which picture would you use? The zygote? The embryo? The baby?"
The staff at the MGZ includes five human geneticists and 14 biologists and chemists. The center's main activity lies in the diagnosis of neurogenetic diseases and hereditary forms of cancer. It receives about 30 blood samples a day, mostly from cancer and epilepsy patients. But parents who are carriers of a serious congenital disorder also contact the MGZ for help. Holinski-Feder often has to give them bad news. That is something she wants to see changed -- she wants to give good news, as well.
A Last Chance
One of the couples she would like to be giving good news to are Jürgen Schäfer, 41, and his wife Carola(*), 42, who are currently sitting in the consultation room.
They have traveled to Munich from a small town near Darmstadt in southwestern Germany. A file on the table in front of the Schäfers tells the couple's story, page by page.
They tried to conceive a child for three years. They went to a fertility clinic in the fourth year, and Carola Schäfer underwent an artificial insemination procedure twice. Then she became pregnant.
When her doctor performed an ultrasound in the 14th week of pregnancy, she discovered a kink in the child's spine. A sample of amniotic fluid was taken in the 18th week. By the 20th week, it was clear that the child had an unbalanced translocation on the second and 16th chromosomes. It had severe organic damage. The cerebellum wasn't growing, the heart was too large and the large intestine was missing.
The doctors told the parents: "It's very likely that it won't survive." Birth was induced prematurely in the 21st week, and the child died shortly after delivery.
After they overcame the shock, the Schäfers went to university hospitals and genetic specialists to try to find out what could be done so that they wouldn't have to experience the same thing again. "We were in Munich, Bonn, Lübeck and Wiesbaden," says Jürgen Schäfer. "They all referred us to someone else." If they hadn't found the MGZ, the Schäfers would have gone to Belgium.
Holinski-Feder explains to the Schäfers how PID is done. A fertility center removes oocytes, or immature egg cells, from the woman and artificially inseminates them. On the fifth day of development, a few of the cells that are emerging from the shell are extracted. These cells have the same genetic material as the embryo, but they develop into placenta. The procedure is called trophectoderm biopsy. By examining these cells, the MGZ can determine whether an embryo has inherited certain genetic defects.
"If we don't try this now," says Jürgen Schäfer, "we'll regret it for the rest of our lives."
They walk out of the doctor's office and go to the coat closet. Jürgen Schäfer gets their jackets so that he can help his wife put hers on. Carola Schäfer is sitting in a chair, and her husband sits down next to her. Then she leans her face against his shoulder and begins to cry.
'All We Have Is a Few Cells' Back in her office, Holinski-Feder points to her computer. "All of our PID patients have experience with miscarriages and stillbirths. Either that, or they are living with a severely disabled child at home." If they didn't, she adds, they wouldn't know that they are carriers of genetic defects.
Holinski-Feder will offer the Schäfer family the option of performing an analysis for chromosomal deformity. A procedure called array-CGH diagnostics is used to determine whether the quantity and arrangement of chromosome pairs is normal. This method does not detect other genetic changes, including muscular dystrophy, cystic fibrosis and congenital nephrotic syndrome, the disease Maya Stark has.
"There are more than 16,000 congenital disorders," says Holinski-Feder, "and all we have is a few cells. We're pleased when we can find what we are looking for."
Precisely because PID is only used to search for specific defects, fears that it could be used on a large scale are unfounded, says Holinski-Feder. She notes that only a small percentage of all disabilities can be prevented with the help of the procedure.
About 80 percent of all disabilities occur during or after birth. Of the remaining 20 percent, many are caused by influences during pregnancy, such as alcohol consumption. "Congenital disorders presumably make up less than 10 percent," says Holinski-Feder. And even within that group, she adds, most disorders are attributable to spontaneous gene mutations. "Despite PID, fate still plays an important role." An estimated 200 to 300 affected couples a year will take advantage of PID.
Artificial insemination will cost the Schäfer family roughly €5,000 ($6,770), and the genetic analysis at the MGZ will cost about the same. They'll have to pay out of pocket, because the German health insurance system doesn't cover these costs at the moment.
PID makes up about 0.2 percent of revenues at the Genetics Center. Holinski-Feder says that the price of PID covers her costs but doesn't bring in a profit. "I do this because I want others to be able to do it," she says.
Employees at the MGZ gather in Holinski-Feder's office for their morning meeting. There aren't enough chairs to go around, so some have to sit on the windowsill. They discuss the previous day's cases. Holinski-Feder leans back in her chair.
The discussion revolves around cancer, tumor markers and gene translocations. At the end, one employee pulls a printout of an email from his pocket and reads it out loud: "This is my request: Can you determine whether there is any relation to Wilhelm II?" Everyone laughs.
The genetics centers that will be allowed to perform pre-implantation genetic diagnosis in the future must satisfy strict criteria. They need a lot of experience in gene analysis and must have the necessary technical equipment. Holinski-Feder estimates that 10 to 20 centers in Germany will meet the requirements.
Under the law, couples are allowed to use the method if, due to the genetic makeup of the parents, there is a strong likelihood that the child will have a serious genetic defect or that the pregnancy will end in stillbirth or miscarriage. There will be no fixed list of disorders. Ethics commissions will be formed to issue approval on a case-by-case basis.
But what are the limits? How serious does a disease have to be for a couple to qualify for a PID?
"No one has a free ticket for 70 years of healthy life," says Holinski-Feder. She feels that the possibilities that exist in the United States go too far. "Making a little sibling be a donor for a child with leukemia, that's not okay," she says, adding that there are many other ways to help these children.
The Right to Decide
"But what if there are no treatment options?" she asks. "If there's nothing we can do?" Holinski-Feder is convinced that if parents know about the risk of a genetic disorder, they should have the right to decide whether or not to accept that risk.
The decisions these couples make often depends on their experiences, and on how much support they get.
Anna, the daughter of Sandra and Markus Kranz, lived only 84 days. The seizures began immediately after she was born last March. The doctors discovered that the child had cysts on her kidneys and a hole in her heart, and that her brain wasn't properly developed.
After 11 days, they knew why: Anna had Zellweger syndrome, a rare metabolic disease in which many enzymes don't work properly, and the organs gradually fail. According to the medical dictionary, "patients rarely survive infancy."
After 19 days in the hospital, doctors sent the Kranz family home. There was nothing else they could do for Anna. She had been born blind and deaf. "All she could do was feel us," says her mother. The parents made a bed for the child on the narrow red sofa in their living room. They positioned the oxygen machine and the monitoring device at the head of the sofa, placing the black box containing tubes and syringes under the coffee table.
Anna couldn't drink, so her parents fed her through a feeding tube. They were constantly lying on the sofa with their child, making sure that Anna remained on her side so that she wouldn't choke on her own tongue.
When their daughter was still in the hospital, the family signed an advance directive, stating they wanted no emergency intensive care treatment for Anna. They wanted her to die in peace. With this wish, they were abandoned.
It began when the health insurance refused to approve special nursing care for the family. When the caseworker was told the details of the case, she decided that there was "no relevant additional expenditure of time."
The days passed, and the child became weaker and weaker. Her mother never left her alone for a second. "We weren't doing very well for a while," says Sandra Kranz, 28. She turned to a hospice for children. "Zellweger?" an employee asked. "Yes, Zellweger." The hospice agreed to accept the family immediately. But then, once again, the health insurance refused to pay the costs.
Sandra Kranz asked the caseworker on the phone: "Why? My daughter is dying."
The caseworker replied: "The child is too young for a hospice. What do you want to do with the baby there?"
Sandra Kranz was speechless. The hospice filed a complaint and the insurance relented, saying that it would cover the child's stay, but that the parents would have to pay for their own accommodations.
The cost was more than €1,000 a week, more than they could afford. Sandra Kranz works in a bakery, and her husband works in a home-improvement shop. The hospice began collecting donations for the couple.
But by that point Anna was already doing very poorly. One morning the monitoring device wouldn't stop beeping. The oxygen saturation in Anna's blood was declining. Markus Kranz turned off the alarm and woke up his wife.
When the pediatrician arrived, he said: "It won't be much longer." The parents sat down on the sofa, held their daughter and waited until the end.
One out of 100,000 children is born with this syndrome. Sandra Kranz and her husband carry a 25-percent risk of having another child with the same disease. They went to the MGZ last fall. "Anna wouldn't be upset with us for going," says Sandra Kranz.
(*) Names changed by the editors
Translated from the German by Christopher Sultan