We never could have imagined all of the scientific discoveries and miracles over the past thirty-five years. While Jeffrey struggled with his condition, we never met another family and Jeffrey never met another child with Primary Immunodeficiency.
We are making a difference in the lives of children, even if it’s one child at a time. One of the ways we’re making a difference is through our no-cost genetic sequencing program, “Jeffrey’s Insights,” at Jeffrey Modell Centers worldwide. All 265,000 registered patients are eligible for the sequencing program, which we piloted in 2019. Since then, our gene panel has increased from 207 genes to 429 genes—an incredible sign of progress.
“Jeffrey’s Insights” was created to help identify genetic defects, promote earlier and more precise diagnosis, enhance clinical management, improve access to care, establish earlier and more effective treatment, and put an end to the diagnostic odyssey. It’s all part of our goal and mission to ensure the earliest possible diagnosis, fulfilling our promise to Jeffrey to Do Something! and help the thousands of children whose lives he has touched so greatly.
The JMCN is proud to offer no-cost Next Generation Sequencing (NGS) to the most complex patients, which we believe should be an early consideration for any patient with a suspected PI. Thanks to the gifted physicians who lovingly care for the patients, nurture them, and give them life, there have been alterations in clinical diagnosis, disease management, treatment, and genetic counseling for many patients. Nearly half of the patients involved in sequencing through “Jeffrey’s Insights” experienced changes in outcome, and nearly all diagnosed patients experienced alterations in therapy due to the genetic sequencing results obtained.
Our newest published manuscript highlights how critical NGS is for PI patients. We know that NGS offers a path to hope, understanding, and ultimately relief for patients and families. However, despite the critical need for genetic sequencing, it’s all too often inaccessible to patients due to cost, insurance, access to care, and other limiting obstacles. Barriers to care results in a prolonged diagnostic journey without genetic evaluation, and sometimes, unknown diagnosis.
Our journey is far from over…we are unstoppable because we have miles to go, more paths to pave, more dreams, to dream, and more stars to reach! Together, we can enhance the quality of life for PI patients…one gene at a time. Let’s keep Doing Something!
Read the complete manuscript here: https://www.frontiersin.org/arti