Genetic Testing of Embryos Increase - Arise In Ethic Questions

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.

Amanda and Bradley Kalinsky plan to tell their children about the deadly, slow-moving disease their mother might develop. 

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.