In a different state in the U.S., another family welcomes a baby boy. He is also born prematurely and is admitted to the NICU. He is seen by a similar team of specialists and eventually is sent home, seemingly on his way to a healthy early life. But after a week at home, his parents become concerned and tell their pediatrician that their son is having trouble eating and sleeping. They are told to continue to monitor him and report back if the issues persist.
One night, their son has trouble breathing. The parents call 911 and ride in an ambulance with him to the hospital. Tragically, he suffers cardiac arrest the following morning in the NICU and passes away. It is only then that a test is performed that shows he, too, was born with GACI.
In rare disease, such a tragic outcome is too often the reality. While newborn screening has continually evolved since its inception in the 1960s, there is much work to be done to close the gap between the positive and negative scenarios described above. Of nearly four million babies born in the U.S. each year, 98 percent undergo screening in the first days of life. www.ncbi.nlm.nih.gov/pmc/articles/PMC5381153 But current screening programs vary and currently some states screen for only 31 to 76 of the hundreds of severe childhood genetic diseases that have available treatments. Adding a new genetic disease to a newborn screening protocol can be time-consuming (5 to 6 years per condition), laborious, and costly. While newborn screening is considered one of the most successful public health programs in the U.S., 100 percent of expert participants in a 2021 survey acknowledged the need for change to improve the process. (https://everylifefoundation.org/wpcontent/uploads/2023/09/ELF-NBS-WhitePaper_Final.pdf)
“THESE NEW INITIATIVES, SPURRED BY THE COOPERATION OF PATIENT COMMUNITIES, ADVOCACY GROUPS, MEDICAL EXPERTS, AND INDUSTRY LEADERS, ARE SIGNIFICANT STEPS FORWARD IN PROMOTING EARLY DIAGNOSIS AND INTERVENTION AROUND THE WORLD.”
The limitations of the current newborn screening system underscore the inherent challenges of diagnosing a rare disease. In a recent study, "The Cost of Delayed Diagnosis in Rare Disease," the EveryLife Foundation estimated that the diagnostic odyssey takes an average of six years and 17 clinical encounters to obtain a definitive diagnosis. When a baby is born with a disease such as GACI, which has just a 50 percent rate of survival in the first six months of life, such an extended timeline is unacceptable. What's more, the EveryLife Foundation study revealed that newborn screening and early diagnosis can yield significant economic benefits, as well as, improved long-term health outcomes. (everylife- foundation.org/wp-content/uploads/2023/09/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare- Disease_Final-Full-Study-Report_0914223.pdf)
According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans each year (nih.gov/about-nih/what-we-do/nih-turn- ing-discovery-into-health/promise-precision-medicine/rare-diseases). Advocates are currently lobbying to add many of these rare diseases, such as GACI, to newborn screening panels. Continuing to raise awareness of the impact of rare genetic diseases and the need for improvement in newborn screening programs is one of the best ways we can push for expansion of newborn screening panels and more widespread use of advanced screening technologies. Fortunately, a
diverse group of advocates, physicians, biotech executives, and other interested parties have made it their mission to foster this evolution in newborn screening.
On the global stage, Genomics England recently announced its initial list of over 200 rare diseases (including GACI) as part of its Generation Study, which the United Kingdom’s National Health Service (NHS) will soon launch. Genomics England developed this initiative to advance early detection and treatment of rare genetic conditions, with the goal of setting a new standard in newborn screening. www.genomicsengland.co.uk/news/genomicsengland-announces-list-of-rare-conditions-to-be-included-inworld-leading-research-study.
Over time, the Generation Study is expected to identify suspected diagnoses for an estimated 500 to 1,000 out of the 100,000 participating babies. According to Genomics England, the study will play a pivotal role in advancing early diagnosis and intervention, potentially leading to the creation of more comprehensive newborn screening programs that save lives by giving families timely clarity on their babies’ conditions and informing next steps for appropriate care.
Initiatives like these exemplify why I am more optimistic than ever about the future of newborn screening. These efforts, spurred by the cooperation of patient communities, advocacy groups, medical experts, and industry leaders, are significant steps forward in promoting early diagnosis and intervention around the world.
Awareness continues to grow for the myriad of rare diseases that must still be incorporated into newborn screening panels. Through ongoing research and advocacy efforts, we can facilitate early diagnosis and timely treatment for greater numbers of babies born with rare diseases. The stakes are nothing less than the difference between life and death.
ABOUT THE AUTHOR:
Catherine Nester, BSN, is Senior Vice President of Health Care Professional (HCP) and Patient Engagement at Inozyme Pharma (inozyme.com) and is an accomplished leader in the biotech industry. With more than 25 years of clinical and pharmaceutical experience, Catherine works closely with patient communities, advocacy groups, and physicians to raise awareness of the needs of individuals living with rare diseases impacting the vasculature, soft tissue, and skeleton. She is proud to be part of a company that is a founding member of the BeginNGS™ consortium, an initiative developed by Rady Children's Institute for Genomic Medicine to evaluate a diagnostic and precision medicine guidance tool to screen newborns for approximately 400 genetic diseases. Inozyme joined the consortium due to its conviction that the development and widespread adoption of advanced newborn screening technologies is essential to diagnosing rare diseases and quickly mapping out a treatment plan that facilitates better outcomes, while also enhancing understanding of the incidence and prevalence of rare diseases. Through the consortium's work, Inozyme hopes to secure the inclusion of many more genetic diseases in standardized newborn screening panels in the near future.