The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
In the age of precision medicine, as scientists uncover more and more cancer subtypes with unique genetic characteristics, even the most experienced oncologist may find it hard to keep up. “I sometimes ask a fellow clinician if they have ever treated a case of mesothelioma, a cancer primarily caused by exposure to asbestos, and the majority will say yes,” explained Dr. Geoff Oxnard, MD, VP and Head of Clinical Development for Foundation Medicine, Inc. “But if you ask them if they have ever treated a rare form of cancer, only a few may be familiar with them. In some instances, their relative prevalence may be about the same. The reason physicians haven’t seen the latter as often is likely because they haven’t been looking for it.”
“Not looking for it” is a concept people living with rare diseases are all too familiar with, as their conditions are often overlooked or misdiagnosed. It’s easy to understand why. There are over 7,000 identified rare diseases today, and many doctors only learn about them through a few sentences in a med school textbook.1 In particular, rare subtypes have historically been hard to identify, in part due to a lack of comprehensive testing. This can end with patients on a treatment course that doesn’t treat their specific type of cancer as effectively as it could.2
Thanks to recent advancements in diagnostic testing, it doesn’t have to be that way. Through strategic partnerships with companies like Foundation Medicine, Inc. and Thermo Fisher Scientific, we have been able to leverage next-generation sequencing (NGS) technology as a tool for improving diagnosis. NGS testing gives physicians the ability to diagnose rare oncogenic mutations with incredible precision, which in turn allows them to explore treatment options that are available today—treatments that will continue to improve as NGS testing becomes a standard of care and researchers and physicians gain more clarity around the way people with particular subtypes of cancer respond to treatments.3
A lung cancer diagnosis that once left individuals feeling helpless could now be met with advanced precision, and, depending on the mutations identified, may offer multiple treatment options. It’s increasingly important for cancer care advocates and industry leaders alike to raise awareness about comprehensive NGS testing whenever possible.3 Because the first step to treating rare forms of cancer is looking for them.