If all babies born in the U.S. were screened for Pompe disease at birth, each year 13 lives could be saved and 26 infants could be prevented from going on ventilators, according to an extensive review of data from the Pompe Disease Registry and medical literature, which was conducted by a government-commissioned Evidence Review Committee.
Compelling evidence like this inspired the U.S. Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) to recommend that Pompe disease, a rare genetic disorder, be added to a list of diseases for which newborns in the U.S. should be screened. This list is known as the Recommended Uniform Screening Panel (RUSP).
Pompe disease is only the third disease in ten years to receive such a recommendation, and it is the first disease to have been recommended under a newly stringent evidence review process.
Newborn Screening Recommendation Process
States in the U.S. vary widely in the number of diseases they screen for at birth. The DACHDNC was formed by the Department of Health & Human Services to minimize these disparities among states and to review nominations of diseases that it will recommend all states screen for. After the committee recommends a disease, the Secretary of Health & Human Services must decide whether to add it to the Recommended Uniform Screening Panel (RUSP). States are not required to add the disease to their screening programs, but most will do so within 1-5 years.
Dr. Priya Kishnani, a Pompe disease expert from Duke University, nominated Pompe disease to the advisory committee. Around the same time, the MPS Society nominated another lysosomal storage disorder, MPS I. The committee voted to perform a full evidence review on both diseases to determine whether it would recommend them. Just receiving a full review was a significant milestone. Due to budgetary constraints, the committee decided to review Pompe disease first. After the extensive review process, which took a full year, the committee recommended that the Secretary add Pompe disease to the RUSP. The Secretary will make a final decision about whether to implement this recommendation.
Genzyme’s Leadership in Newborn Screening
For the past 15 years, Genzyme employees, collaborators, and the rare disease community have been working to make newborn screening for Pompe disease and other lysosomal storage disorders a reality. Genzyme has contributed to the forward momentum for newborn screening in the following ways:
- Sponsored research that resulted in the blood tests used to screen newborns for Pompe disease and MPS I
- Developed an analysis method that enables newborn screening labs to analyze a large number of blood samples
- Shared patient outcomes data from the Genzyme-sponsored Pompe Disease Registry that provided the basis for the DACHDNC’s recommendation
- Sponsored large-scale newborn screening pilot programs in Taiwan, Argentina, Austria, and Washington State that demonstrated the value and validity of the newborn screening tests
- Convened several academic conferences and expert groups that advanced knowledge and explored complex issues surrounding newborn screening
- Manufactures the reagents used for Pompe disease and MPS I newborn screening
- Donates these reagents through the CDC Foundation to the Centers for Disease Control and Prevention (CDC), which in turn distributes them worldwide without charge
- Provides a grant to the CDC Foundation to administer the Newborn Screening Translation Research Initiative and help support CDC in training newborn screening laboratory scientists and developing quality control and quality assurance processes
Advances in newborn screening, both from a scientific and a policy perspective, are an important part of Genzyme’s legacy. We recognized and demonstrated that these tests can make a tangible difference in people’s lives. We could not have done this without the entire lysosomal storage disorder community working together and trusting Genzyme to take the organizational lead.