WASHINGTON – Her first thought after she heard the news was that she would never have children. Amanda Baxley’s doctor had just told her 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.
On the spot, Baxley, 26, declared she would not let the disease take another life in her family line, even if that meant forgoing childbirth. The next day, her boyfriend, Bradley Kalinsky, asked her to marry him.
But the Kalinskys’ wedded life has taken an unexpected turn, one briefly described 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 tested for the disease-causing gene.
Only embryos without the gene were implanted in her womb. The Kalinskys are now parents of twin 3-year-olds and a 9-month-old, children who will be free of the fear of GSS.
The in vitro fertilization and testing are expensive – typically $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 raises 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?
“In the medical community, the lack of knowledge about PGD is a serious concern,” said Dr. P. Murali Doraiswamy, a dementia researcher at Duke University Medical Center and an author of the new paper, referring to pre-implantation genetic diagnosis.
Ethicists are divided about use of the method.
Janet Malek, a bioethicist at the Brody School of Medicine at East Carolina University, said people who carry a gene like GSS have a moral duty to use pre-implantation diagnosis – if they can afford it – to spare the next generation
But David Wasserman, an ethicist at Yeshiva University and consultant to the department of bioethics at the National Institutes of Health, says there is no obligation to use it for diseases that do not start until adulthood. Eliminating embryos with such genes is essentially saying someone like Kalinsky should never have been born, he said.
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 pre-implantation 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 pre-implantation 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.