Last month, journalists from the New England Center for Investigative Reporting raised serious questions about prenatal genetic screening tests, saying physicians and patients may not fully understand the results of these tests for fetal abnormalities.
In their reporting, the journalists exposed a symptom of what may be a bigger problem: the proliferation of genetic tests without a full understanding about what such testing can and cannot do. Even health insurers have struggled to understand how to pay for new genetic tests.
The stories also pointed out that federal regulators are wrestling with how to classify genetic tests. Many of these tests fall into the category of what pathologists call lab-developed tests or LDTs. These tests are not regulated by the FDA, as the NECIR journalists reported. In October, the FDA proposed regulating these tests as medical devices and clinical laboratories are pushing back, saying such regulations could interfere with the practice of medicine.
We’ll address these issues one at time.
First, the work of Beth Daley, an investigative reporter and director of partnerships for NECIR, is significant because she wrote that clinical laboratory companies are overselling the accuracy of their prenatal screening tests. After a three-month examination of the issue for NECIR, Daley reported that labs selling these tests had done little to educate expecting parents or their doctors about the risks of false alarms. Some women terminated pregnancies and sometimes aborted healthy fetuses based on the results of screening tests alone, meaning they did not get more conventional tests to confirm the genetic screening results, she wrote. While these screening tests can detect potential problems, they are not reliable enough to diagnose life-threatening conditions, she added.
Daley’s article, “Oversold prenatal tests spur some to choose abortions,” was published on page one of the Sunday edition of The Boston Globe and on the NECIR site as “Have new prenatal tests been dangerously oversold?”
In another NECIR article, “Unusual experiment raises concerns about prenatal testing labs,” reporter Shan Wang wrote about a study by obstetricians who specialize in high-risk pregnancies. For the study, the obstetricians submitted blood samples from two women who were not pregnant to five commercial labs. When submitting the blood samples, the obstetricians from Boston Maternal Fetal Medicine said the samples were from women who were 12 weeks pregnant.
“Three of the labs returned results that indicated the presence of a normal female fetus, even though the samples they received were from non-pregnant women,” Wang wrote. These results demonstrate the need for better oversight of such screening tests, she added.
Within days, the Society for Maternal-Fetal Medicine issued a statement confirming the importance of Daley and Wang’s reporting.
As Daley and Wang pointed out, there is a growing need for better oversight of these tests. In fact, the screens and thousands of other tests are not subject to FDA approval. “Because of a regulatory loophole, the companies operate free of agency oversight and the kind of independent analysis that would validate their accuracy claims. Doctors often get that information from salespeople, according to doctors themselves,” Daley wrote.
Last summer, the FDA announced that it would regulate lab-developed tests, which include genetic, molecular, and other tests that labs develop in house. In October, the FDA issued a proposed rule to regulate these tests. The clinical laboratory industry is fighting the proposal. Modern Healthcare and The New York Times showed why the proposed regulations are worth covering.
Clinical labs take the threat of lab-developed test regulation seriously. The American Clinical Laboratory Association hired former Solicitor General Paul D. Clement and Laurence H. Tribe, a professor of constitutional law at Harvard, to outline the legal case against the FDA’s proposed regulations to reclassify lab-developed tests as medical devices. Released this week, their report, “Laboratory Testing Services, as the Practice of Medicine, Cannot Be Regulated as Medical Devices” (pdf), says lab-developed tests are not medical devices and regulating them would interfere with the practice of medicine.
But as Modern Healthcare editor Merrill Goozner explained in an editorial last week, “Why the FDA should regulate lab tests,” the proliferation of new genetic tests that have not been validated by clinical trials or other scientific methods can lead to unnecessary spending and poor outcomes. “Medical practitioners and the public deserve protection from test purveyors making unproven claims,” he wrote.
Health insurers are also concerned about unproven claims. In 2013, the health insurer Cigna hired InformedDNA, a company that provides genetic counseling to consumers, to implement a program requiring Cigna members to get counseling from an independent board-certified genetics specialist when seeking coverage for certain genetic tests. Cigna was the first national health insurer to require independent board-certified genetic counseling before approving coverage for testing.
In a report in July, InformedDNA said many patients and some physicians have unrealistic expectations about the type of information genetic testing can yield. “A genetic test provides only a partial view of a patient’s health risks. To be reliable, test results must be viewed in the context of personal and family health history and health behaviors. Without that context, using a genetic test is like reading one chapter of a novel and presuming to know the ending,” the report said.
“There’s a lot of misunderstanding and misinformation about genetic testing, particularly regarding who should be tested and what the test results mean,” said David Finley, M.D., Cigna’s national medical officer for enterprise affordability and policy.
Not only are insurers concerned about the lack of understanding about genetic testing, they also are worried about rising costs of these tests. In 2012, UnitedHealthcare estimated in a report, “Personalized Medicine: Trends and prospects for hte new science of genetic testing and molecular diagnostics,” that spending on genetic testing totaled about $5 billion in 2010 and could reach $15 billion to $25 billion annually by 2021.
Health reporters interested in gaining deeper understanding of these issues may want to attend Health Journalism 2015 in Santa Clara, Calif., April 23 to 26, where one of the topics will be a “Genetics primer for journalists.”
Presentations from “Getting personal: The medical and ethical challenges of using genetic information” a panel at Health Journalism 2014:
- Bryan R. Haugen, M.D., professor of medicine and pathology, University of Colorado School of Medicine
- Carl Morrison, M.D., D.V.M., executive director, Center for Personalized Medicine, Roswell Park Cancer Institute
- Rebecca D. Pentz, Ph.D., professor of research ethics, Emory School of Medicine
- Moderator:Eric T. Rosenthal, special correspondent, Oncology Times