The Case Against FDA Regulation of Laboratory-Developed Diagnostic Tests

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Scholar argues against proposal to regulate lab-developed tests as medical devices.

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Over the past decade, the field of genomic medicine has experienced lightning-speed innovation. With the help of DNA extracted from Neanderthals, for example, scientists have gained important new insights into human evolution. Researchers can now use a mother’s blood and a father’s saliva to detect whether an unborn fetus will have Down syndrome. And when the women in her family succumbed to cancer, Angelina Jolie relied on a genetic test to find out whether she carried a dangerous gene mutation.

Last July, the U.S. Food and Drug Administration (FDA) announced that it would consider placing genetic tests and thousands of other Laboratory-Developed Tests (LDTs) under oversight for the first time in history.

In a recent article, James Evans of the University of North Carolina at Chapel Hill and Michael Watson of the American College of Medical Genetics argue that this move—while well-intentioned—will lead to detrimental consequences for LDTs, especially for genetic testing. The FDA’s proposed framework would not only slow down the engine of innovation but also potentially limit patient choice, say the authors. If implemented, the new requirements would threaten the future of genomic medicine, according to Evans and Watson.

The authors say that the swift development of genetic testing in the last several years is largely due to the efforts of small clinical and academic laboratories, which have quickly responded to new discoveries and patient needs by developing high-quality and safe LDTs. The FDA’s decision to consider regulating LDTs as medical devices raises the possibility of an onerous, lengthy and expensive process placed on these labs. Moreover, the agency lacks the empirical evidence to justify its new mandate, according to Evans and Watson. They point out that the director of the FDA’s Center for Devices and Radiological Health cited little more than anecdotal evidence of patient harm during a congressional hearing on the FDA’s announcement.

Moreover, the absence of FDA oversight over LDTs does not mean that these tests are entirely unregulated, say Evans and Watson. When Congressed passed the Clinical Laboratory Improvement Amendments (CLIA) in 1988, it created an overarching framework regulating all clinical laboratory testing. By imposing rigorous quality standards on all LDTs, CLIA ensured the accuracy and effectiveness of patient test results regardless of where the test was performed. Although the authors believe that further accreditation requirements for genetic laboratories are sensible, they say that the FDA’s regulatory framework conflicts with CLIA and is not what Congress intended when it enacted the amendments.

Evans and Watson fear that implementation of unnecessary and unwarranted regulation based on mere conjecture will do more harm than good. Apart from derailing medical progress, the extra layer of regulatory requirements will likely cause patients to lose access to timely, life-saving testing, they argue.

In addition, Evans and Watson fear that FDA’s regulation might cause many academic laboratories—the source of much of the innovation—to close altogether. The field would become populated by the few, very large labs that are able to meet burdensome FDA manufacturer requirements and pay the costly user fees associated with regulatory oversight, say Evans and Watson. Patients with rare genetic diseases—for which commercialization is seen as economically unattractive—have a great deal to lose, they say.

Large commercial entities support the FDA’s requirements while small labs and academics oppose them, Evans and Watson point out. These commercial labs foresee a financially profitable landscape where they hold a monopoly on laboratory testing. An environment of limited choice, however, will only hurt patients, say Evans and Watson.

As an example, they emphasize that prior to the Supreme Court’s invalidation of Myriad Genetics’ patents on the BRCA1 and BRCA2 genes in 2013, just one lab could legally sequence those genes. As a result, innovation crawled to a halt and patients had no way to seek independent second opinions. In the aftermath of the Court’s unanimous decision, numerous labs began offering testing for the genes, resulting in cheaper and more high-quality testing for breast cancer risk. An FDA regulatory framework would bring back the pre-2013 environment, Evans and Watson say.

They argue as well that the FDA’s authority to regulate LDTs is itself in question. Unlike medical articles manufactured in large quantities, LDTs are procedures that vary based on the personal needs of the patient. This degree of personalization requires a flexible regulatory framework, not the costly and stringent standards the FDA applies to medical devices. Ultimately, Evans and Watson conclude that a nuanced middle ground between too much and too little regulation is necessary to protect the public and enable innovation. Indeed, the future of genomic medicine depends on it, they argue.