We have written extensively about health system regulation in this blog, with a keen interest in how LDT regulation will shake out. In our other blog we've even argued strongly for caution in LDT regulation, primarily to avoid stifling innovation. However, our tune is changing as more and more evidence has been provided that the current LDT oversight program, CLIA, might not be enough. In the last year there has been virtually no progress made on the discussion of LDT regulation.
Now a law suit against a major lab, Quest and subsidiary Athena, brought by a mother of a child who died at 2 years old of a rare seizure-causing disease, has gone mainstream, even reported in Buzzfeed. We believe that this lawsuit will be the catalyst for renewed discussion of LDT regulation at the FDA.
In a nutshell, the child had seizures starting at 4 months old. An extensive diagnostic workup was done that identified a genetic variant in SCN1A. Mutations in SCN1A are known in the liturature to cause Dravet syndrome, a severe form of epilepsy. Over 150 research papers have linked SCN1A mutations to Dravet syndrom since 2003*, including one written by the Athena lab director. Unfortunately, the mutation in the child was classified as a variant of unknown significance (VUS) and the child was prescribed a treatment that may have made Dravet syndrome worse. The child died at 2 after a seizure.
Stories like this one will put pressure on regulators and politicians to better regulate labs. Regulation will have wide sweeping impacts on labs. We still believe that LDTs are the best source of innovation in the market, but there needs to be a balance of innovation and safety. Without a framework for safety, innovation is not centered around patient needs as tightly as it needs to be. Without proper regulation market pressures from pharma, IVD developers, and even health systems provide incentives to labs that are misaligned with patient safety.
* Source BiomarkerBase, 2016