November 2016, Vol. 5, No. 9

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Where We Agree When It Comes to Regulating Laboratory-Developed Diagnostics

Amy M. Miller, PhD

The Last Word

Federal agencies have a long history of finalizing regulatory documents at the end of an administration. If that history repeats itself in 2016, it may mean a new regulatory environment for an industry that includes more than 60,000 genetic testing products and services.

The FDA published a detailed proposal for regulating laboratory-developed tests (LDTs) in July 2014. The proposal was unpopular with most industry stakeholders for a variety of reasons, and Congress has indicated some interest in offering a legislative solution to the issue. Meanwhile, the FDA has maintained that it intends to finalize the document this year, and the end of the Obama administration adds urgency to the endeavor.

Some observers speculate that an acceptable LDT regulation framework is out of reach for the diagnostics community, but that may not be true.

At the beginning of this year, I moderated a series of discussions on potential legislative solutions with representatives from the entire diagnostics community, including those with an interest in personalized medicine. During our discussions, it became clear that the community agrees that a solution to LDT regulation should take a risk-based approach to:

1. Protect public health labs. Public health labs should be protected by any regulatory paradigm, which means that sentinel, infectious disease, and public health labs must be able to design, deploy, and use rapidly developed diagnostics to address critical public health needs.

2. Allow flexibility and efficiency when managing modifications. As diagnostic device developers have long argued, the way test modifications are managed by a regulatory system should be flexible and efficient to allow diagnostic tests to evolve with the clinical science that underpins them.

3. Mitigate regulatory burdens for government and industry. To reduce burdens on government and industry, regulatory agencies should recognize when certain safeguards are already in place. These mitigation strategies can help regulatory bodies keep pace with the rapidly evolving science of personalized medicine diagnostic testing.

4. Design a grandfathering system for tests already on the market. Tech firm NextGxDx estimates that there are more than 60,000 personalized medicine diagnostics offered by about 300 labs, with another 8 to 10 coming to market each business day.1 To manage such an enormous workload, a regulatory agency must design a grandfathering system that will allow most tests to remain on the market unless there is a compelling reason to remove them.

5. Ensure regulatory burdens reflect testing volumes. Regulatory burden must reflect testing volume. For example, diagnostics designed for rare and unmet needs should be given careful and different consideration to ensure that tests are developed for micromarkets.

6. Accept valid scientific evidence for regulatory purposes—even if that evidence does not include data from a randomized controlled trial. Personalized medicine challenges how healthcare products and services are conceived, developed, regulated, covered, paid for, and used by physicians. Evidentiary requirements for regulatory review must also evolve. The community agrees that regarding diagnostics, valid scientific evidence should be acceptable for regulatory review, even when that evidence does not include data from randomized controlled trials.

Personalized medicine depends on diagnostics, and reducing uncertainty about possible regulatory changes for them is essential to the field. Any proposal to alter the current regulatory landscape will be judged according to the characteristics outlined above.


  1. NextGxDx. How Many Genetic Testing Products Are There (#PMWC16)? Accessed October 31, 2016.
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