Rare Disease Leaders Announce Collaboration to Modernize Newborn Screening

Joint effort will assess current state of newborn screening and develop a roadmap for modernization

WASHINGTON, DC [September 23, 2020] – Today, a group of leading rare disease-focused organizations including the EveryLife Foundation for Rare Diseases, Orchard Therapeutics (Nasdaq: ORTX), Sarepta Therapeutics, Inc. (Nasdaq:SRPT), BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) and Retrophin, Inc. (Nasdaq: RTRX), announced a joint effort to evaluate the capacity of newborn screening in the United States to provide timely diagnosis of all newborns who may benefit from new treatments, if and when such treatments are approved for use in the U.S. The findings of the evaluation will inform policy recommendations that ensure equitable access to newborn screening for all babies in the U.S.

Newborn screening (NBS), now more than 50 years old, is a successful public health program that detects certain genetic, treatable conditions at birth. Despite the many achievements of NBS, there are limitations to the current system that cause significant delays between the availability of a treatment and screening, putting infants and children at risk for preventable mortality and disability. Due to advances in diagnostic and medical technology, many rare but serious disorders previously considered to be untreatable may soon have the potential for life-altering improvement or even a cure. The speed at which these potentially transformative technologies and treatments are being developed is at odds with the current newborn screening system, demanding solutions for its modernization.

“The EveryLife Foundation has worked alongside the rare disease patient community to be an active voice in newborn screening federal and state policy for the past five years,” says Annie Kennedy, Chief of Policy and Advocacy for the EveryLife Foundation for Rare Diseases. “Together, this group of organizations will work to assess the strengths, weaknesses, and opportunities for innovation within our newborn screening system so that all stakeholders can work in unison toward informed change that meets the needs of our nation’s newborns.”

RTI International, one of the world’s leading non-profit research institutes, will complete the first phase of the modernization effort, a study of the strengths and weaknesses of the current system. The study team will conduct a series of interviews with key stakeholders to assess the readiness of the system to keep pace with medical innovation and identify potential solutions that meet the needs of people with rare diseases. The study is expected to be completed by April 1, 2021.

“We are excited about this opportunity to envision a future state for newborn screening” says Don Bailey, a newborn screening expert and Distinguished Fellow at RTI. “Our goal is to build on the information we collect to develop a set of recommendations that could enable movement towards significant system modernization.”

The COVID-19 pandemic shone a spotlight on the importance of funding for the public health infrastructure to adequately support those it is intended to serve. NBS is an example of a program with the potential to save lives, when sufficiently funded and operationalized. With breathtaking medical promise on the horizon, it is timely to ensure a modern, optimally effective newborn screening system that gives all babies and children with rare diseases the chance to thrive.

The announcement was made in conjunction with Newborn Screening Awareness Month and will be discussed further during the Newborn Screening Policies panel at The American Society of Gene and Cell Therapy Policy Summit. The panel will take place on Friday, September 25^th from 11:00 a.m. to 12:00 pm.

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About the EveryLife Foundation for Rare Diseases
The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures.

A disease is defined as rare when it affects fewer than 200,000 people in the United States. On average, rare disease patients must wait an average of six years after symptoms first present before receiving a proper diagnosis. Ninety-three percent of the 7,000 known rare diseases have no U.S. Food and Drug Administration-approved therapies. Fifty percent of rare disease patients are children, thirty percent of whom will not live to see their fifth birthdays.

About RTI International
RTI International is an independent, nonprofit research institute dedicated to improving the human condition. Clients rely on us to answer questions that demand an objective and multidisciplinary approach—one that integrates expertise across the social and laboratory sciences, engineering, and international development. We believe in the promise of science, and we are inspired every day to deliver on that promise for the good of people, communities, and businesses around the world. For more information, visit www.rti.org.