At the 2018 meeting of the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM), President Eric Sorensen, MD opened the first plenary session with a look at advances in precision medicine and the hurdles neurologists face in helping patients get the latest and most promising therapies.
In his talk, titled “The Arrival of Precision Medicine in Neuromuscular Disease,” Dr. Sorensen reminded the audience of the shift in “central dogma” of medicine. We now know that the concept of DNA to mRNA to protein is far more complicated than a simple pathway. Combine that with the fact that gene therapy—once the domain of science fiction writers—is now very much a reality, and you’ve got a novel approach to patient care in just a couple of decades.
These advances in medical treatment have moved startlingly fast. The offending genetic defect in spinal muscular atrophy (SMA), for example, was only identified in 1995. But the FDA approved a therapy for it in 2016. And SMA is not an outlier. Multiple neuromuscular diseases, such as Duchenne muscular dystrophy and ALS, are having new therapies developed at an increasing rate.
These developments offer hope where there was none before. But that hope has often been dashed by unreachable pricing. Nusinersen for SMA runs over $700,000 in the first year and approaches $400,000 in subsequent years. Indeed, it is more the norm than the exception for these treatments to run in the hundreds of thousands each year. This translates to billions of dollars each year across the population.
With strangling healthcare expenditures in the U.S., our system can’t sustain these costs. The Middle Class Security Project by AARP published a report in 2011 indicating one-third of U.S. residents find medical care to be a financial burden, and one in five have medical bills they are struggling to pay. Employers are feeling the strain of increasing insurance premiums for their employees. They continue to shift the responsibility for the cost to their employees, resulting in a doubling of premiums paid by individuals and reduced health coverage.
So, as a society, we have decisions to make. It’s true that the free market rewards innovation, but if those innovations are too expensive for those patients who need them, the system has failed us. Solutions are needed. One such solution was presented by Steven Pearson, MD, founder of the Institute for Clinical and Economic Review (ICER) at another plenary session, which we covered in another article, Calculating a Fair Price for Novel Drugs.
It is indeed an exciting time of innovation and advancement in treatment for neuromuscular diseases. But Sorensen explains that the excitement is tempered by the reality that we cannot afford to offer these treatments to everyone. As those on the frontlines, neurologists have an important role to play in solving this imbalance.