Rare disease: Our $1 trillion healthcare reform opportunity

"As professionals who have spent their entire careers at the intersection of science, policy, and innovation, we believe we are standing at a pivotal moment where the status quo is no longer acceptable. We must approach diagnosing rare diseases at birth differently via genome sequencing. The science has never been more promising. The economics have never made more sense. And the human cost of inaction has never been higher."

"Earlier diagnosis of rare diseases is not a luxury-it is a moral and financial imperative for modernizing our health system. Take the case of KJ, a baby treated at the Children's Hospital of Philadelphia. Born with a deadly genetic disease called CPS1 deficiency, KJ was diagnosed early and became one of the first children to receive gene therapy tailored to his specific mutation."

"For too long, we've relied on limited newborn screening panels that vary from state to state, waiting until symptoms are severe and irreversible before acting. This approach is not only medically irresponsible, it's fiscally unsound. Experts estimate rare diseases cost the U.S. healthcare system $1 trillion annually."

Thousands of children in the U.S. with rare diseases lack timely diagnosis, leading to high mortality and irreversible harm; thirty percent die before age five. Current state-based newborn screening panels are limited and inconsistent, delaying intervention. Rare diseases impose roughly $1 trillion annually on the U.S. healthcare system and create substantial family burdens, including caregiving, lost income, and specialized education needs. Advances in genome sequencing and precision medicine enable early, mutation-specific treatments that can save lives and reduce long-term costs. Early diagnosis through newborn genome sequencing can avert severe outcomes, lower societal expenditures, and promote equitable access to precision therapies.

Read at Fast Company