Wrapping Up Year of Progress: Advancing Newborn Screening for NPC
Historic News: First-Ever NPC Newborn Screening Pilot Study
September 2019 is Newborn Screening Month
NNPDF to Join National Effort to Add NPC to Newborn Screening Lists
What is newborn screening?¹
Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions that can hinder their normal development, affecting a child’s long-term health or survival. Each year, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders. All newborn babies are required by the State to get tested typically before they leave the hospital. They are also tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge. To do the test, a nurse will take a few drops of blood from the newborn’s heel.
Why is newborn screening important?²
Each year, 4.1 million newborns are screened for congenital disorders in the United States. Of these, 4,000 infants are diagnosed as having a condition. It is estimated another 1,000 infants that have conditions go undetected. The conditions included in newborn screening can cause serious health problems starting in infancy or childhood. Early detection, diagnosis, and intervention can help prevent intellectual and physical disabilities, and life-threatening illnesses, enabling children to reach their full potential.
Why is newborn screening important to the rare disease community?³
Of the 7000 rare diseases, only 35 are included in the Recommended Universal Screening Panel (RUSP). Unfortunately, screening programs vary widely by state. While some states screen for fewer than 30 diseases, others screen for over 60. Although states ultimately determine what disorders their public health departments program will screen for, the RUSP establishes a recommended standardized list of disorders that every baby should be screened for. Serious problems can be prevented if disorders are detected right away. By knowing more about these very rare disorders and the advantages of early detection, the primary care physician can work with the child and family to develop a comprehensive plan of care.
How to locate a genetics professional?
To find a genetics professional in your community, check with your doctor for a referral. You can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. For further information visit the NIH webpage on finding a genetics professional.
Firefly Fund’s Newborn Screening Working Group completed its final meeting of the year in December – the Annual Stakeholder Meeting. While in Washington, DC, the Working Group reviewed the year’s activities and set sights on key research and advocacy activities for 2020. Key activities for the past year included a series of Working Group calls, the first annual NPC Clinical Roundtable, the first NPC community webinar delivered in partnership with the NNPDF, and major community presentations.
Significantly, we were also proud to announce the inclusion of NPC in the ScreenPlus pilot newborn screening study in New York, the largest consented multi-disorder newborn screening pilot study ever conducted in the United States.
Key external speakers at the stakeholder meeting included representatives from the Association of Public Health Laboratories and the American College of Medical Genetics and Genomics. Leaders from both groups discussed key barriers and opportunities we can expect to face on the path to adding NPC to newborn screening lists nationwide. Experts outlined what the NPC community will need to demonstrate in terms of “readiness” for routine newborn screening – such as having an accurate screen and effective treatment options. They also described challenges in the public health system that could delay adoption – such as having a provider group that can manage patients and enough capacity in state labs to add an additional test.
Looking ahead, Firefly is excited to welcome additional supporters to the NPC NBS Initiative, broadening stakeholder support for the effort from industry, the NPC Community and NPC/NBS experts. Learn more here.
It’s official! The ScreenPlus program in New York state that will include NPC received a major award from the National Institutes of Health that will allow the program to move forward. ScreenPlus is the most expansive consented pilot newborn screening study in the country, where families of newborns born at 8 New York hospitals will be offered the option to have their babies screened for an additional 13 disorders – including Niemann-Pick C. This is the first time any newborn, anywhere in the world, will be given the option of being screened for NPC at birth.
The Firefly Fund’s NPC Newborn Screening Working Group member Dr. Melissa Wasserstein of Montefiore Hospital in NY is leading the study. And Firefly is one of the funders supporting the program through a unique cost-sharing collaboration that also includes academic centers and several pharmaceutical companies.
NNPDF joins Firefly, all its Working Group members and supporting NPC stakeholders in congratulating Dr. Wasserstein on this major accomplishment. This study is history-in-the-making as the NPC community will begin to gather evidence regarding the importance of early diagnosis and intervention in the treatment of NPC. Learn more by clicking on this official announcement – and share the news with your networks!
September is Newborn Screening Awareness month – a great time to raise awareness about the efforts the Niemann Pick community is undertaking to add NPC to newborn screening lists nationwide. Led by the Firefly Fund’s Newborn Screening Working Group, all month long, you can follow updates on Twitter and LinkedIn about the importance of newborn screening, what it entails and what it would mean for the NPC community. For example, one Tweet noted, “Newborn screening can help families of children with rare diseases avoid a long diagnostic odyssey. Knowing sooner is better!” And another informed people that “Newborn screening is not just a test.” The NPC Working Group is working with a wide range of stakeholders to demonstrate how screening for NPC will fit into the US public health care system. That means demonstrating we can effectively screen, diagnose, refer and care for any family who receives an NPC diagnosis through newborn screening. Follow #Fireflyfund this month and beyond for newborn screening updates. Thank you!
Have you ever heard of baby’s first test? In every state across the nation, hours after birth, infants are tested for a limited number of harmful or potentially fatal disorders that aren’t otherwise apparent at birth. A simple blood test can inform families whether their newborn has a certain condition or not. And when a screening comes back positive, clinicians inform families about the possibility of their newborn having a rare disease. While certainly unexpected, knowledge can bring power. Early diagnosis and treatment can sometimes make the difference between lifelong impairment and healthy development.
Today, however, even though technology exists to detect the disease at birth, NPC is absent from our nation’s newborn screening programs. NNPDF is proud to be joining the Firefly Fund’s NPC Newborn Screening Working Group, focused on advancing the cause of newborn screening for NPC. This multi-disciplinary stakeholder Working Group includes NPC researchers and clinicians from academic centers of excellence and the NIH, representatives from several NPC family foundations, key industry partners, and NPC advocates. While diverse in expertise, the Working Group has a common goal: to advance the cause of newborn screening for NPC and solidify its inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP). The RUSP is the gold standard states look to when selecting conditions to include in their public health screening program.
NNPDF looks forward to working on this critical endeavor, helping to accumulate scientific evidence that demonstrates the positive public health benefit of routinely screening all newborns for NPC. While there is still much unknown about this ultra-rare disease, there is general consensus regarding the value and importance of early diagnosis. Such a change in the disease paradigm would enable clinicians and families to determine much earlier how and when to intervene. And, hopefully, to improve patient outcomes.