Gina Kolata, New York Times, February 4, 2014
Her first thought after she heard the news, after she screamed and made her mother and boyfriend leave the room, was that she would never have children. Amanda Baxley’s doctor had just told her, over a speakerphone in her psychiatrist’s office, that she had the gene for Gerstmann-Straussler-Scheinker disease, or GSS, which would inevitably lead to her slow and terrible death.
This rare neurological disease had stalked her family for generations. Her father, 56, was even then in its final throes.
On the spot, Ms. Baxley, 26, declared she would not let the disease take another life in her family line, even if that meant forgoing childbirth. “I want it stopped,” she said. The next day, her boyfriend, Bradley Kalinsky, asked her to marry him.
But the Kalinskys’ wedded life has taken a completely unexpected turn, one briefly described on Monday in The Journal of the American Medical Association Neurology. Like a growing number of couples who know a disease runs in the family, they chose in vitro fertilization, and had cells from the embryos, created in a petri dish with her eggs and his sperm, tested first for the disease-causing gene. Only embryos without the gene were implanted. The Kalinskys are now parents of three children who will be free of the fear of GSS.
Genetic testing of embryos has been around for more than a decade, but its use has soared in recent years as methods have improved and more disease-causing genes have been discovered. The in vitro fertilization and testing are expensive — typically about $20,000 — but they make it possible for couples to ensure that their children will not inherit a faulty gene and to avoid the difficult choice of whether to abort a pregnancy if testing of a fetus detects a genetic problem.
But the procedure also raises unsettling ethical questions that trouble advocates for the disabled and have left some doctors struggling with what they should tell their patients. When are prospective parents justified in discarding embryos? Is it acceptable, for example, for diseases like GSS, that develop in adulthood? What if a gene only increases the risk of a disease? And should people be able to use it to pick whether they have a boy or girl? A recent international survey found that 2 percent of more than 27,000 uses of preimplantation diagnosis were made to choose a child’s sex.
In the United States, there are no regulations that limit the method’s use. The Society for Assisted Reproductive Technology, whose members provide preimplantation diagnosis, says it is “ethically justified” to prevent serious adult diseases for which “no safe, effective interventions are available.” The method is “ethically allowed” for conditions “of lesser severity” or for which the gene increases risk but does not guarantee a disease.
Preimplantation diagnosis often goes unmentioned by doctors. In a recent national survey, Dr. Robert Klitzman, a professor of clinical psychiatry and bioethicist at Columbia University, found that most internists were unsure about whether they would suggest the method to couples with genes for diseases like cystic fibrosis or breast cancer. Only about 6 percent had ever mentioned it to patients and only 7 percent said they felt qualified to answer patients’ questions about it.
Patients can avoid all testing and hope for the best, playing what Dr. Ilan Tur-Kaspa, the founder and director of the Institute for Human Reproduction, calls “reproductive roulette.” Or, he said, they can conceive on their own and have the fetus tested. If the gene is present, they face the difficult choice of whether to abort the pregnancy. Preimplantation genetic diagnosis provides another option.
Dr. Tur-Kaspa said that after having done the procedure a thousand times, he cannot think of a gene he would not test for if a patient requested it.