In 2019, we proudly introduced our no-cost genetic sequencing pilot program, “Jeffrey’s Insights,” for patients within the Jeffrey Modell Centers Network (JMCN) living with an underlying PI but no genetic diagnosis. The pilot was so successful that we decided to expand the program globally to our more than 400 JMCN centers in early 2020 to provide an opportunity for sequencing to more patients.
We created “Jeffrey’s Insights” to support of our mission of earliest possible diagnosis. We know that proper genetic sequencing helps to identify specific genetic defects, enhances clinical management, and enables physicians to establish earlier and more effective treatment for their patients. “Jeffrey’s Insights” offers a sense of relief for patients and their families who may be suffering from unnecessary stress and poor quality of life and a chance to better understand unique genetic defects.
Incredibly, nearly half of the patients who participated in genetic sequencing through “Jeffrey’s Insights” experienced a change in outcome. Even more remarkably, almost all of the patients who participated in genetic sequencing had their treatment changed based on their results. These are extraordinary results! This is an amazing indication of the benefits that genetic sequencing has for the PI community.
We’ve heard time and time again from patients living with PI that they’ve had to suffer through a lengthy, inefficient, and expensive diagnostic odyssey. Unfortunately, genetic sequencing is often inaccessible due to cost, insurance, and limited access to care. It is our hope that the results of “Jeffrey’s Insights,” now and in the future, will encourage better access to genetic sequencing for PI patients around the world and reduce the burden that so many families experience.
To read our most recent publication and learn more about our genetic sequencing efforts, click here.