Chicago Tribune - February 27, 2002
Peter Gorner, Tribune science reporter

The 33-year-old mother, a genetic counselor, is doomed to develop early-onset familial Alzheimer's disease, a rare inherited form of the incurable neurological disorder that strikes adults in their 30s and 40s. Despite the inevitable, she and her husband wanted to have a baby, but they also wanted to ensure that it did not inherit the deadly gene.

At a North Side fertility clinic, Yury Verlinsky--a pioneer in a technique called preimplantation genetic diagnosis, or PGD--tested early embryos created with the couple's eggs and sperm and found those that were free of the gene that causes the disease. Of those, four embryos were placed into the woman's uterus, producing the girl.

The latest advance shows the tremendous potential of the young science of PGD to end genetic diseases coursing through some family bloodlines. But it also renews concern over what does--or should--constitute ethically acceptable assisted reproduction.

The mother probably will be incapacitated when the child is young, raising questions in some minds about whether science should be helping the woman have a child at all.

Further, the research raises the specter of selecting embryos by genetic preference, to some only steps away from producing "babies by design."

The report describing the procedure, published Wednesday in the Journal of the American Medical Association, was accompanied by a critical commentary that pointed out that the mother "will likely manifest early symptoms of Alzheimer's disease while this child is in the early, formative years."

When the woman's sister developed Alzheimer's at 38, one of the first problems was that she could no longer care for her two children, wrote Dr. Dena Towner and ethicist Roberta Springer Loewy, both of the University of California-Davis in Sacramento. Five years later, she was placed in an assisted-living facility.

"Much like her sister," the California authors wrote, "the woman in the report by Verlinsky most likely will not be able to care for or even recognize her child in a few years."

Verlinsky politely disagreed about any ethical lapse.

"This is the first known procedure for inherited early-onset Alzheimer's disease resulting in a clinical pregnancy and birth of a child free of inherited predisposition to this terrible disease," he said at a news conference at the Reproductive Genetics Institute, 2825 N. Halsted St., which he founded and directs.

"The mother is fully aware of her situation," Verlinsky said. "Her extended family is warm and closely knit. The child will be loved. The mother hopes that in 10 years when she starts showing symptoms, medical science may be able to do something for her."

Verlinsky and colleagues are best known for pioneering preimplantation genetic diagnosis, a marriage of in-vitro fertilization and DNA testing.

In October 2000 the team created little Adam Nash, who was genetically selected from other healthy embryos to give cells from his umbilical cord to his sister because the two of them have the same tissue type.

Molly Nash's life was saved, but some ethicists cautioned that genetic technology was being pushed so rapidly that moral issues and the implications for society are not being discussed.

The work at the lab is privately funded and virtually unregulated.

Of late, the technique has opened the door to creating babies who are free of genetic predispositions that won't show up until adulthood, such as cancer and Alzheimer's, as the Human Genome Project reveals the genes responsible.

Verlinsky sees this as a chance to help parents, but to the ethicist Loewy the baby's needs are getting lost.

"Who's the real patient here?" Loewy asked rhetorically in a telephone interview.

"This woman's sister had severe difficulty taking care of her children. They were exposed to a very unstable family situation. Frankly, we wouldn't allow this woman to adopt a child for that very reason. Why should her right to procreate trump that?"

On the other hand, many of the family members are health professionals and knew exactly what they were doing, said Kimberly Quaid, an Indiana University psychologist and geneticist who did the tests that determined who in the family carried the gene.

"When individuals test positive for a late-onset disorder like Alzheimer's disease or Huntington's disease, we discuss the issue of having children," Quaid said.

"As a society, we have left those difficult reproductive questions to individuals. This child was born into a loving family. As for what is `best' for the child is harder to determine. I believe there is a clear benefit achieved in that whatever her mother goes through, she will not have to suffer the same fate. That, I believe, is a great gift."

The anonymous mother expressed her own feelings about carrying the deadly gene in a piece for the Journal of Genetic Counseling. When she decided to be tested, she and her husband prepared methodically.

"We increased the value of my life insurance and purchased the best long-term policy possible," she wrote. "We prayed together and promised each other that these results would not change us, only prepare us."

When the bad news was announced, the woman reacted with tearful stoicism, the husband with stunned silence. A year later, she underwent preimplantation genetic diagnosis and two bouts of in-vitro fertilization, which cost $10,000, to complete her family.

Her baby girl is 18 months old and healthy, Verlinsky said. (The announcement was delayed, in part, because of the time required to prepare the research for publication.)

The typical age of onset for Alzheimer's disease is after 65, but in more and more families the nightmare starts decades earlier. Of the estimated 4 million Americans who have Alzheimer's, 200,000 to 400,000 have the early-onset form of the disease, according to the Chicago-based Alzheimer's Association.

In early-onset Alzheimer's, perhaps 20 percent of these individuals appear to have an inherited dominant disorder--meaning each child of a carrier stands a 50-50 chance of inheriting the gene.

The latest development will have a small impact on Alzheimer's disease, said Bill Thies, the Alzheimer's Association vice president of medical and scientific affairs.

"The cases where a single gene mutation results in the disease are very, very rare," he said. "They've only been diagnosed in a few families across the world."

To Arthur Caplan, director of the Center for Bioethics at the University of Pennsylvania, the latest Verlinsky advance came as no surprise.

"He's an interesting guy, far more interesting than the human cloning people," Caplan said. "And in the long term, preimplantation genetic diagnosis is going to bring about an enormous shift--of seismic proportions, ethically.

"Having a baby is always an exercise in hope. People have hope when they have a baby in their late 40s. Or when they are HIV-positive. People have lots of hope.

"But hope alone isn't good enough. Somebody has to look out for the child's interest for when the hope doesn't pan out."

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