Worried that too few doctors and pregnant women understand that new prenatal genetic tests can be wrong a significant amount of time, two U.S. Congresswomen from opposite ends of the abortion debate have introduced legislation that would provide warnings about limitations of the screens.
The screening tests, known as cell-free DNA, can tell a woman the risk her fetus has of Down syndrome and a growing list of other chromosomal abnormalities as early as nine weeks into a pregnancy. But a New England Center for Investigative Reporting examination last fall found that several companies were misrepresenting the accuracy of their tests, and some women had aborted healthy fetuses.
U.S. Rep. Jaime Herrera Beutler, a pro-life Washington Republican, along with Rep. Lucille Roybal-Allard, a pro-choice California Democrat, filed the “Accurate Education for Prenatal Screenings Act” late last month. It would require the Centers for Disease Control and Prevention to develop two separate education programs for health care providers and parents.
“Parents deserve the most accurate information available about their pregnancy,” said Herrera Beutler, who cited the New England Center’s work in her announcement.
Herrera Beutler, whose daughter was born without kidneys in 2013, said her situation, while different, sensitized her to the need for accurate prenatal information. Her daughter is now waiting for a kidney transplant. A routine ultrasound first alerted her and her husband to their daughter’s condition.
“Misinformation is dangerous,” said Herrera Beutler, adding that the tests offered valuable information, but women needed to properly understand them. Women can get “derailed by false information,” she said.
The tests first came on the market in 2011 and are projected to be a $3.6 billion global industry within the next five years. Originally aimed at older women and others at higher risk for having a child with a chromosomal condition, the tests are increasingly being marketed to younger, lower-risk pregnant women. But the tests are not diagnostic and only tell a woman the possibility her fetus has a chromosomal condition.
Positive test results indicating a problem can be wrong more than 50 percent of the time, but several companies advertise that their tests are 99 percent accurate. One company – Illumina – even has claimed its Verifi screening test was “near diagnostic,” even though it is not.
Other questions have arisen about the growing field of prenatal tests, especially after two Boston doctors sent in blood samples from two women who were not pregnant to five testing companies. Three of the companies sent back results last year indicating they came from women who were carrying a healthy female fetus.
In the last year, several efforts have been made to better educate women, including warnings by the Society For Maternal-Fetal Medicine and an education campaign, by the Perinatal Quality Foundation (sponsored by industry). But critics say it is not enough.
“The predominant sources providing information about these tests to healthcare providers and patients are the companies that sell these tests,” said Katie Stoll, a genetic counselor with the Genetic Support Foundation, an independent non-profit geared to provide accurate information about genetic testing.
“I am hopeful that this legislation will provide some much-needed funding to develop better, more objective resources and programs to educate providers,” she said.
The National Institutes of Health is also weighing in, announcing a $1.1 million grant this month to the New York-based Hasting Center, an independent non-profit bioethics research institute. The three-year grant will analyze implications of all prenatal genetic tests in part to chart out how the tests should be used in the future.