Latest Down Syndrome Tests Renew Social, Ethical Debates Over Genetic Testing

Main Category: Pediatrics / Children's Health
Also Included In: Genetics
Article Date: 25 Feb 2009 - 5:00 PDT

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The development of new, safer tests for Down syndrome that could provide more definitive results earlier in pregnancy are renewing questions about the regulation of genetic tests and stoking concerns among abortion-rights opponents who "fear that the technology may prompt more couples to terminate pregnancies," the Washington Post reports. The American College of Obstetricians and Gynecologists since 2007 has recommended that all pregnant women be given the option of Down syndrome screening, but the current screening tests -- which consist of blood tests and ultrasounds -- can produce inaccurate or ambiguous results. Women may also undergo either amniocentesis or chorionic villus sampling to confirm the initial tests. Amniocentesis is the most common choice, but the procedure carries a risk of miscarriage and is not typically performed until the second trimester, when abortions are more difficult to obtain, the Post reports. New tests being developed would more accurately analyze genetic information and provide more definitive results. Four companies are working on new tests, including San Diego-based Sequenom, which plans to have its test on the market in June. At a meeting of the Society for Maternal-Fetal Medicine last month, Sequenom reported results of a study of the test in 858 women that showed it detected all Down syndrome cases and produced only one false positive, making the test more accurate than the current first-trimester tests and on par with amniocentesis, according to the Post. The company hopes its test will eventually replace amniocentesis and CVS.

According to the Post, the debate over the newer tests exemplifies "the morass of issues that will arise as scientific and technological advances produce more tests to identify markers for genetic conditions -- before conception, during pregnancy and even after birth." Gregory Feero of the National Human Genome Research Initiative said, "We are at a time where you will be able to test for many things and will be left with many serious questions -- both scientific and moral -- about how to interpret and what to do with the information." Antiabortion-rights groups and some advocates for the disabled are concerned that the earlier tests will lead more women to choose abortion if they receive a Down syndrome diagnosis. Andrew Imparato of the American Association of People With Disabilities said, "We have a history in this country of a eugenics movement where people tried to eliminate certain people from the gene pool. People could start wondering, 'How did you get born?'" Representatives from the National Down Syndrome Society this week are in Washington, D.C., to lobby lawmakers to fund legislation enacted last year aimed at ensuring that women receive accurate information about genetic conditions and support if they decide to give birth and raise the child or pursue adoption.

According to the Post, some experts say the debate over the new tests also "illustrate[s] the void left by [FDA's] long-standing policy not to regulate such tests." An FDA spokesperson said the agency has "exercised its regulatory discretion" not to impose regulations because the tests are developed and used by a single laboratory. Kathy Hudson of the Genetics and Public Policy Center at Johns Hopkins University said, "Genetic testing and other kinds of tests are increasingly going to be used for making vital treatment decisions. We want to be sure the test results are accurate" (Stein, Washington Post, 2/24).

Reprinted with kind permission from http://www.nationalpartnership.org. You can view the entire Daily Women's Health Policy Report, search the archives, or sign up for email delivery here. The Daily Women's Health Policy Report is a free service of the National Partnership for Women & Families, published by The Advisory Board Company.

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