Following-up on our previous post about the recent achievement in newborn screening for two lysosomal diseases in the state of Washington, the Association of Public Health Laboratories (“APHL”) has an excellent brief article by Michelle Forman, APHL’s senior specialist for media, posted on their blog on March 1, 2016, which provides both facts and insights about newborn screening for lysosomal diseases. Have you been wondering why getting the lysosomal diseases included in all 50 states’ newborn screening programs is taking so long and is requiring so much effort? Read Michelle’s cogent post, and you’ll know exactly why!
On August 9, 2017 the Washington State Board of Health unanimously passed the addition of Pompe disease and mucopolysaccharidosis type I (MPS I) to their state’s newborn screening panel. The Board of Health is the policy body charged with making recommendations to the State of Washington regarding newborn screening. Over the summer the Board convened a technical advisory committee of parents, genetic experts, ethicists and other experts that met twice to consider the data surrounding these two additions, both of which had already been recommended as part of the federal Recommended Uniform Screening Panel. Washington has its own review criteria: available screening technology, diagnostic testing and treatment available, prevention potential and medical rationale, public health rationale, and cost benefit/cost effectiveness. The Board of Health reviewed the recommendations of the Advisory Committee and, as Dr. Thomas Pendergrass, Board Vice-Chair commented when making the motion to add Pompe disease, “This is impacting families and kids. It is something we can do something about. It is something that if we delay doing it we’ve lost he benefit of the short term.”
The materials presented can be downloaded from the Washington State Board of Health by scrolling to Item 09. Also, Item 07 on that web page contains some additional pertinent materials used by the Board in reaching its decision.
The Lysosomal Disease Network would like to thank all who participated on the Washington Board of Health technical advisory committee, the Board of Health and its staff, as well as those who testified at the two Board hearings where this was considered. In particular, the LDN would like to thank the parents of patients with MPS I and Pompe disease who testified about their experiences to the technical advisory committee and the Board of Health. Their stories vividly conveyed to policymakers the benefits of newborn screening. The testimony of Dr. Klane and Amy White, the parents of Susannah White, a child who died from MPS I, summed up the importance of newborn screening: “It is my belief, and that of most families unfortunate enough to have lived through our experience, that while not a perfect answer, newborn screening can reduce this variability and improve patient care. This is not to mention potentially alleviating months to years of uncertainty and anxiety experienced by families stuck in the diagnostic odyssey. It is my firm belief, as well as that of my peers in the rare disease community, that newborn screening is a critical and necessary step forward in the care of our children and families facing MPS and other rare diseases.”
Now, additional steps must be accomplished prior to being able to screen newborns for MPS I and Pompe disease. The Governor of Washington must recommend, and the Washington Legislature must appropriate, monies to implement the screenings in the 2018 legislative session. If this is successful, it will be followed by a rulemaking process through the Washington Department of Health. If all goes well, MPS I and Pompe disease could be added to newborn screening as early as Fall 2018.