Recently, the FDA revealed a draft plan to regulate thousands of medical diagnostic tests being done in clinical laboratories throughout the U.S., focusing especially on the field of genomic medicine. While the FDA is doubtless well-intentioned, the envisioned regulation is unnecessary and could undermine innovation, force the closure of many laboratories and threaten patient choice and well-being. If implemented, the requirements would also derail the emergence of precision medicine, a field highlighted by President Obama in his last State of the Union address.
The last several years have seen a dramatic rise in genetic testing, due to advances in technology that allow rapid and practical sequencing of a patient’s DNA. Such analyses have begun to benefit patients in fields ranging from the diagnosis of birth defects to individualized treatment of cancer. These developments have occurred due, in large part, to the nimbleness of small clinical and academic laboratories that can quickly respond to medical findings and patient needs by developing Laboratory Developed Tests. The resulting landscape is one of vigorous competition in which labs that offer genetic testing compete on the basis of quality, service, innovation and cost – with patients the clear winners.
The FDA, however, wants to regulate LDTs as “medical devices,” mandating that laboratories meet formal FDA manufacturer requirements for each developed test, a costly and time-consuming process, all with no valid or apparent justification. If serious problems of quality or reliability of genetic testing existed, increased scrutiny by the appropriate government agencies would be reasonable. However, it is difficult to identify quality problems or errors that would justify the drastic action proposed.
Indeed, to maintain accreditation, clinical labs that perform LDTs must meet multiple and rigorous demands by federal and state agencies and professional accrediting organizations such as the College of American Pathologists and the Joint Commission.
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The consequences of the proposed FDA action could be serious. Academic laboratories, whence much of the innovation in laboratory testing derives, simply do not have the resources necessary to meet the proposed demands of the FDA. They would essentially be precluded from developing (or improving) tests in response to patient needs. All that would remain would be a few very large labs and corporations that have sufficiently deep pockets. Such a situation would be particularly devastating for patients with rare genetic diseases, in that LDTs are their only option for testing because of insufficient financial incentive to sustain a commercial testing market.
Many major professional organizations such as the Association of Molecular Pathologists and the American College of Genetics and Genomics are strongly opposed to the FDA proposal due to concerns about patient well-being. Both have drafted (similar) alternative plans to ensure the safety and quality of laboratory testing that do not threaten the survival of our country's thriving test development infrastructure.
Finally, there is the question of whether the FDA even has statutory authority to regulate LDTs. LDTs are not “articles” manufactured in large quantities to meet specific manufacturing standards and subject to regulation under the Medical Device Amendments to the Federal Food and Drug Act. Rather, LDTs are procedures for performing diagnostic tests that will vary with the clinical needs of patients. The individual nature of LDTs requires flexible regulation, not the costly, overly burdensome standards that the FDA applies to commercial device manufacturers.
Too much regulation can be as harmful as too little. A middle ground must be found that protects the public and also allows for innovation. Patients are just beginning to benefit from new genomic technologies. Let’s not allow overly zealous regulation to cripple those who are best able to develop the next generation of genetic tests and realize the promise of precision medicine.
James P. Evans, M.D., Ph.D., is the Bryson Distinguished Professor of Genetics & Medicine at the University of North Carolina at Chapel Hill.