Next-generation sequencing will be a disruptive technology, and intended uses and proper interpretation will be critical, Gutman said. Armstrong suggested that next-generation sequencing will initially be used in clinical areas where it already makes sense, such as in the evaluation of infants in the newborn intensive care unit. She also pointed out that Aetna has a very small number of people who understand the detailed potential and problems of next-generation sequencing. “It would be good to get help,” she said. “But we still have a fiduciary responsibility to administer a plan of benefits that a plan sponsor wants us to administer on their behalf. So we have to stick with technology assessments and evidence.” Payers are not research organizations. They are claims payment organizations. They may study a few issues, but the full range of what needs to be evaluated is immense. “Health plans are not the solution to fill all these evidence gaps that exist,” she said.
Finally, Swatkowski offered the perspective that companion diagnostics may be an interim step to understanding disease and mutations that are unique to particular patients. An all-encompassing diagnostic test would define “diagnosis, prognosis, and adverse reactions,” and that is the NGS platform, she said.
Standards will be needed as next-generation sequencing gathers momentum, said Koch. Roche has begun doing next-generation sequencing, and it is finding a great deal of variation across platforms and analytical tools. “To ensure that we do the right things for patients and have accurate results, standards will be required, whether [tests] are LDTs or [FDA-approved] IVDs,” Koch said, and he cautioned that next-generation sequencing is incredibly complex. “We have a challenge that is beyond technology here,” he said. “It’s really about how to understand the biology and appropriately translate it into something meaningful for patients.”