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FDA Holding Off on Finalizing Regulatory Guidance for Lab-Developed Tests

This article has been updated with additional comment from the FDA regarding a Senate committee hearing in September, and a statement from the Personalized Medicine Coalition. 

NEW YORK (GenomeWeb) – Amid post-election uncertainty, the US Food and Drug Administration has decided to delay finalizing its draft guidance on regulating lab-developed tests, GenomeWeb has learned.

According to multiple sources in Washington, DC, the FDA has been informing stakeholders in policy circles of the decision. GenomeWeb reached out to the FDA for confirmation and received the following statement from a spokesperson:

"The FDA believes that patients and health care providers need accurate, reliable, and clinically valid tests to make good health care decisions — inaccurate or false test results can harm individual patients. We have been working to develop a new oversight policy for laboratory developed tests, one that balances patient protection with continued access and innovation, and realize just how important it is that we continue to work with stakeholders, our new Administration, and Congress to get our approach right. We plan to outline our view of an appropriate risk-based approach in the near future. It is our hope that such an approach will help guide continued discussions."

Two years ago, the agency released draft guidelines outlining a risk-based framework for regulating LDTs that would be phased in over nine years. LDTs have historically been regulated by the Centers for Medicare & Medicaid Services under the Clinical Laboratory Improvement Amendments. 

The laboratory and pathologists communities have been against FDA oversight of LDTs, which they contend are services and not devices under the purview of the agency under the law. Groups representing labs and pathologists believe that while regulations can be updated for LDTs, they should be done through changes to CLIA. Toward that end, they have been working with the House Energy & Commerce Committee to advance a legislative solution.

The decision to delay its oversight plan is yet another setback for the agency, which has been trying to advance guidance on the topic since 1992. The agency has tried to implement a plan with industry and stakeholder input through multiple public meetings, workshops, and has even defended its plan before Congress. (For a deep dive on the history of this controversy and on alternative LDT regulatory proposals see GenomeWeb white papers, here and here.) 

At the 12th Annual Personalized Medicine Conference in Boston this week, Alberto Gutierrez, head of the Office of In Vitro Diagnostics and Radiological Health within FDA's device division, said that it was still too early to tell how the election of President-elect Donald Trump and the change in administration would impact the work of the FDA. However, he continued to emphasize the importance of the agency's role in regulating LDTs, which increasingly rely on complex algorithms and are broadly marketed, unlike traditional LDTs developed and performed at a single lab with limited marketing.

In this changing environment, the FDA believes that gaps in the present regulatory system under CLIA present a public health risk. Much to the objections of its detractors, the FDA has even presented examples where LDTs have harmed or could have harmed patients.

Even if the agency doesn't get its laboratory guidance out, Gutierrez said at the conference that the FDA might take the approach that it has taken with helping shape regulatory policies for next-generation sequencing-based tests, by setting best practices.

The FDA recently released two draft guidances outlining a framework for its oversight of such NGS tests. One guidance outlines principles for demonstrating the analytical validity of NGS tests for hereditary diseases, and the other lays out how administrators of publicly accessible genetic variant databases might garner the agency's recognition, so data in these repositories could provide clinical validity support for genetic tests. The agency has maintained that these are voluntary guidelines, and not requirements. 

While some stakeholders and providers of NGS tests have acknowledged that the agency's proposals are innovative and flexible, these guidances didn't win over much support from the those staunchly against any FDA regulation of LDTs. There is suspicion among detractors of FDA oversight that the draft NGS guidances are a way to impose regulation on the lab community, since most NGS tests are LDTs.

Importantly, Gutierrez's comments at the Personalized Medicine Conference is the first time since releasing the draft LDT guidance that the agency has acknowledged the possibility that it may not finalize the guidance. Despite unrelenting pushback from the lab community, the agency to date has consistently said it planned to finalize the guidance.

However, even before the election, there were signs that the FDA might have difficulty sticking to its plan. In September, senators on the Committee on Health, Education, Labor, & Pensions held a hearing to gather more input from lab and diagnostics stakeholders on FDA's bid to regulate LDTs. During the hearing a number of Republican senators characterized the agency as too plodding to keep up with innovation in the molecular diagnostics space. 

At that hearing, the FDA notably did not present any testimony before the HELP committee. An FDA spokesperson told GenomeWeb that the committee neither called the agency as a witness, nor asked the agency to provide written testimony. 

Now, after the election, with Republicans controlling both the House of Representatives and the Senate, the agency's resolve to finalize the LDT guidance may not be as steady. Furthermore, without knowing Trump's pick for US Department of Health and Human Services secretary, it's unclear how much support from the administration the FDA will have for its LDT regulation plan.

For the time being, the delay pleases groups that didn't favor FDA regulation in the first place. "The FDA's decision to delay guidance is in the best interest of patients, providers, and advancement in molecular pathology testing," Roger Klein, chair of the Association for Molecular Pathology's professional relations committee, told GenomeWeb. "We look forward to working with the FDA as we find ways to continue to improve the already high-quality testing we to provide to patients."

"Today's announcement by the FDA has paved the way for a transparent discussion on meaningful reform that would protect diagnostic innovation and patient access," American Clinical Laboratory Association President Alan Mertz said. "The clinical laboratory community looks forward to working with all stakeholders as diagnostic innovation continues to be front and center in the advancement of medical science."

The Personalized Medicine Coalition — a nonprofit that has worked with different stakeholders in the diagnostics community to come up with principles that should underlie any LDT regulatory framework — supported FDA's decision to give the topic further consideration before finalizing guidance. "The FDA has given serious attention to the regulatory environment for laboratory-developed tests for well over a decade, and while the LDT guidance was issued two years ago, it was in development for years before that," Amy Miller, executive VP of PMC, said in a statement. "Given the importance of the regulatory environment for diagnostics to the advancement of personalized medicine, PMC appreciates FDA’s willingness to continue its thoughtful consideration of this topic."