A study published in the Journal of the American Medical Association shows that couples who were informed following prenatal genetic testing that their fetus had Gaucher's disease were more likely to terminate their pregnancy if they did not then speak to an expert on the condition.
Gaucher's disease is a treatable genetic condition characterised by an enzyme deficiency, which can lead to enlarged livers or spleens, anaemia, bleeding, bone disease, and, rarely, neurological problems. The disease is found primarily in Ashkenazi Jews or those of Eastern European descent. Since 1995, Ashkenazi Jews have been offered screening for the disease in Israel and globally. The disease appears in different forms, with some of those affected having no or very mild symptoms, and rarely the symptoms being much more severe. The genetic test is, however, unable to accurately predict how severely affected a child is likely to be.
The study was led by Ephrat Levy-Lahad, director of the Medical Genetics Unit at Shaare Zedek Medical Centre in Jerusalem, where the records of 28,900 people were studied from the 10 genetic centres in Israel that screen for Gaucher's. The research team interviewed 65 couples, who had a total of 90 pregnancies between 1995 and 2003, and who had decided to undergo the testing for Gaucher's.
Sixteen fetuses tested positive for the mildest form of Gaucher's disease, four of which were aborted. Two of the fetuses aborted were predicted to have mild or no symptoms of the disease, and two to have moderate but treatable Gaucher's. Of the 13 couples that had met with a Gaucher's expert to discuss the disease, only one decided to terminate the pregnancy. Mr Levy-Lahad concluded in the study that 'to avoid termination of pregnancies for mild conditions, even in a highly educated population, screening programmes would require a combination of traditional, nondirective genetic counselling professionals familiar with the specific diseases'.
Lainie Friedman Ross, professor of clinical ethics at Chicago University, countered that the goals of genetic testing were not to identify minor diseases such as Gaucher's. She said 'we want testing to help us diagnose a serious disease, to find the right treatments for those diseases...and some want it for making decisions about serious genetic abnormalities in their potential children'. She argued that Gaucher's did not fit into either of those categories. However, Karen Grinzaid, a genetic counsellor at Emory University and a coordinator for the care of Gaucher patients, argued that it was for the couples concerned to decide what they did with the information they were given.
The study has highlighted hitherto unforeseen outcomes of genetic testing, with some questioning the appropriateness of genetic screening in the case of less serious conditions. In the case of Gaucher's, some have suggested that until clinicians and researchers are better able to understand the factors that determine whether a patient will develop a severe form of the disease or not, the screening could not be considered useful. Dr Ernest Beutler, of the Scripps Research Institute in California, suggested that up to that point screening 'will likely do more harm than good'.
Sources and References
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Researchers question some genetic screening
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Informing Couples That Fetuses Have Treatable Genetic Disorder Gaucher Disease Leads Some To Terminate Pregnancy, Study Finds
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Prenatal testing results lead some to abort pregnancies, study finds
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