A recent FDA study questioned the accuracy of numerous laboratory tests, including some manufactured by the above companies.
Laboratory tests have incorrectly diagnosed a variety of medical conditions, including ovarian cancer in women and the cause of a child’s autism, according to a U.S. Food and Drug Administration report released this week that signaled the agency’s resolve to finalize controversial regulation of a growing number of largely unregulated tests.
The report, which analyzed 20 tests, also criticized popular prenatal screening tests for Down syndrome and other conditions as being less accurate than claims; as well as Lyme disease tests that are misdiagnosing patients. For the first time, the agency also estimated financial costs for the misdiagnoses: For example, $12,578 per ovary removal for a false positive ovarian cancer test.
The tests, known as laboratory-developed tests, were excluded from FDA oversight in the mid-1970s because they represented a tiny fraction of all diagnostic tests and were often developed in hospital labs for a select group of patients. The exemption allows any test developed and performed in a single lab to avoid FDA oversight to determine if the test is accurate or safe.
Yet since the mid-2000s, labs - many armed with genomic technology - have begun using the exemption to market thousands of tests to doctors and the public. Deeply concerned, the FDA announced plans last year to regulate the tests but there has been fierce industry as well as academic opposition.
“Getting the right treatment to the right patient at the right time…depends upon having accurate, reliable and clinically valid tests,’’ said Dr. Jeffrey Shuren, director of the Center for Devices and Radiological Health at the FDA. “If not, we give the wrong treatment, or no treatment and patients get hurt.”
Dr. Jeffrey Shuren, director of the FDA's Center for Devices and Radiological Health, testifies before the Energy and Commerce Committee in the House of Representatives on Tues., Nov. 17.
Opponents this week said FDA regulation would stifle innovation and harm patients. The report, a trade group noted, highlighted outdated anecdotes that in many cases were “recycled and speculative.”
“…when a small number of case studies are used to characterize an entire dedicated and compassionate industry, it detracts from the true task at hand – and that is to effectively strengthen the current regulatory framework for LDTs in a way that continues to advance diagnostic innovation,’’ said Alan Mertz, president of the American Clinical Laboratory Association, a trade group that opposes FDA oversight.
Indeed, the case studies were amalgams of studies, news reports and financial analyses. But the FDA report said there was no other way to do the study, because companies offering largely unregulated tests do not have to report problems to any governmental entity.
The study cited three ovarian cancer screening and diagnostic tests - none that are on the market today - saying they inflated accuracy claims, had too many false-positives and faulty data analysis. The agency also found fault with some giants in the genomic testing world, such as Genomic Health for what the agency said was telling some women they were not high risk for breast cancer reoccurrence, when they were. The cost of every false negative case for that test, the FDA estimated, was $775,278 because the patient was probably given the wrong treatment.
Other tests included in the FDA review included one for whooping cough that in 2006 wrongly diagnosed a group of workers at the Dartmouth University hospital in New Hampshire; a fibromyalgia test as well as other cancer related tests.
The New England Center for Investigative Reporting has examined LDTs, focusing on faulty Lyme tests that were misdiagnosing patients, leading to expensive and unnecessary treatment. The center also examined prenatal tests, documenting cases where doctors' and patients' misunderstanding of the tests led to abortions of healthy fetuses.
The report was released the day before a U.S. House Energy and Commerce Committee hearing on test and lab regulation where FDA officials were absolute in their pledge to regulate thousands of tests after more than a decade of promises to do so.