Informing Couples That Fetuses Have Treatable Genetic Disorder Gaucher Disease Leads Some To Terminate Pregnancy, Study Finds

Main Category: Abortion
Also Included In: Genetics;  Pediatrics / Children's Health;  Women's Health / Gynecology
Article Date: 21 Sep 2007 - 8:00 PDT

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Informing a couple that a fetus has Gaucher disease, a treatable genetic disorder, often results in the termination of the pregnancy, especially if the couple does not meet with an expert about the condition, according to a study published on Wednesday in the Journal of American Medical Association, the Los Angeles Times reports (Kaplan, Los Angeles Times, 9/19). Gaucher disease is a condition caused by an enzyme deficiency that can lead to enlarged livers or spleens, anemia, bleeding and, occasionally, bone disease. In rare cases, it can cause progressive neurological complications, the Chicago Tribune reports (Peres, Chicago Tribune, 9/18). According to the Times, symptoms of the disease can be treated with biweekly enzyme infusions that cost about $100,000 to $400,000 annually.

Gaucher is found primarily in Ashkenazi Jews, or those of Eastern European descent. Experts estimate that 6% to 10% of Ashkenazi Jews are carriers of at least one mutation that can case Gaucher. Ephrat Levy-Lahad, director of the Medical Genetics Unit at Shaare Zedek Medical Center in Jerusalem, said about 60% of eligible couples in Israel receive the screening.

Study
For the study, Levy-Lahad and colleagues examined the records of about 28,900 people from the 10 genetic centers in Israel that screen for Gaucher. Between 1995 and 2003, researchers found 83 couples who were told that both partners had Gaucher disease mutations. Researchers were able to arrange interviews with 65 of the couples, who had a total of 90 pregnancies. Couples decided to test fetuses for Gaucher in 68 of the pregnancies (Los Angeles Times, 9/19).

Sixteen fetuses tested positive for type 1 Gaucher, the mildest form of the disease, and four of those were aborted, the study found (Kahn, Reuters, 9/18). Two of the aborted fetuses were predicted to have mild or no symptoms, and two were predicted to have moderate but treatable Gaucher, according to the study (Chicago Tribune, 9/18). Researchers also found that among the 13 couples who met with a Gaucher expert and learned that the disease was treatable, one chose to end the pregnancy. The three couples who did not discuss the disease with an expert chose to terminate the pregnancy. One couple, who learned their mutations could cause the most severe form of Gaucher, decided not to conceive, according to the study (Los Angeles Times, 9/19).

Comments
"Our results suggest that to avoid termination of pregnancies for mild conditions, even in a highly educated population, screening programs would require a combination of traditional, nondirective genetic counseling with medical counseling professionals familiar with the specific diseases," the researchers wrote. Levy-Lahad said that the study is a "cautionary tale of the future of genetics in general," adding that "this has been going on and we haven't looked back to see the consequences of putting these screening programs into place" (Reuters, 9/18).

Lainie Friedman Ross, a professor of clinical ethics at the University of Chicago, said the goals of genetic testing do not include "looking for minor disease." She added, "We want testing to help us diagnose a serious disease, to find the right treatments for those diseases -- treatments we'll respond to --and some want it for making decisions about serious genetic abnormalities in their potential children. Gaucher doesn't fit into any of those models." (Chicago Tribune, 9/18). However, Karen Grinzaid, a genetic counselor at Emory University who coordinates care for Gaucher patients, said testing fetuses for the condition is an "opportunity to gain information, which some people might want," adding, "It's their decision about what they want to do with that information" (Los Angeles Times, 9/19).

Editorial
Ernest Beutler of the Scripps Research Institute in La Jolla, Calif., in a JAMA editorial accompanying the study, wrote, "Not until clinicians and researchers better understand the factors that determine whether a patient ... will develop severe disease or none at all will screening for Gaucher disease become useful." Beutler added that until then, such screening "will likely do more harm than good." According to the Tribune, Beutler holds patents on the screening test for Gaucher and has a paid position on the scientific advisory board of the company that develops a drug for the disease (Chicago Tribune, 9/18).

The study abstract is available online.

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