As the University of Virginia genetics representative on the Newborn Screening Advisory Committee and one of four actively practicing, board-certified metabolic geneticists in the Commonwealth, I find the proposals in Senate Bill 374 to be well-intentioned. The views expressed here are my own and do not reflect the position of the Advisory Committee or the University of Virginia. We are in an era of unprecedented access to diagnostic testing, accompanied by rapid growth in disease-modifying therapies for rare diseases. This progress is exciting and hopeful. At the same time, it creates real challenges when considering population-wide screening for all detectable and ostensibly “treatable” conditions. Although many FDA-approved therapies meaningfully alter primary disease manifestations and natural history, others primarily address secondary or tertiary manifestations. Some benefit individuals with mild-to-moderate disease but offer limited benefit for those with the most severe forms. These advances remain important, and the rare disease community shares the goal of improving outcomes across the full spectrum of severity. However, determining whether a condition is appropriate for mandatory population screening requires careful assessment of disease variability, clinical utility, and treatment impact. For this reason, additions to the newborn screening panel should continue to be vetted through the Commonwealth’s established process, guided by board-certified subspecialists and public health experts. The disorder specified in the substitute proposal illustrates these challenges. In Gaucher disease, FDA-approved therapies are effective for non-neuronopathic disease. However, there are currently no FDA-approved therapies that meaningfully alter the neuronopathic manifestations, which are the primary and most life-limiting features for the most severely affected patients. While experimental approaches are being explored at select centers, the current peer-reviewed evidence does not demonstrate consistent, meaningful improvement in neurologic outcomes. This raises important ethical and public health considerations for mandatory statewide screening. Implementing population-wide screening for a condition in which available therapies do not meaningfully alter the primary manifestations in the most severely affected infants requires careful deliberation. Families may reasonably differ in whether they would wish to receive this information in the newborn period absent an effective therapy for the most severe form. I strongly recommend that additions to the newborn screening panel continue to undergo structured, evidence-based review by content experts and public health professionals. A measured approach should evaluate false-positive rates, clinical validity and utility, availability of therapies that alter primary outcomes, and equitable access to specialty care and treatment across the Commonwealth. Preserving this expert-led pathway is essential not only for Gaucher disease, but for all future conditions proposed for inclusion in the Commonwealth’s newborn screening program.

Please see response to bill in attached PDF.

Advocating for Gaucher Disease Newborn Screening in Virginia Support for SB 374 Chairman Hope and members of the subcommittee, my name is Dr. Bruce Silverman, a retired physician from Goochland County, Virginia. Today, I speak not only as a medical professional but as a patient who has battled Type 1 Gaucher Disease, along with many members of my own family. My diagnosis came late—after years of unexplained symptoms. By then, I suffered from critically low platelets, my liver and spleen were enlarged to twenty times their normal size, and I had developed osteoporosis. The uncertainty and harm caused by delayed recognition could have been prevented. Early detection would have spared us confusion, fear, and unnecessary suffering. Gaucher Disease meets all three standards for newborn screening: it is detectable before symptoms develop, the test is accurate and reliable, and timely, effective treatment is available to improve outcomes. These criteria ensure that screening genuinely benefits children and families, rather than creating harm, confusion, or inequity. Gaucher—especially Types 2 and 3—is rare enough that most physicians may not consider it, but newborn screening would help detect these devastating disorders. This is the essence of good medical care, using the best tools available to protect vulnerable children. I urge you to vote in favor of SB 374 and include Gaucher Disease in Virginia’s newborn screening program. Thank you.

Chairman Hope, Members of the Subcommittee: As a pediatrician and pediatric rheumatologist who cared for many children and youth with uncommon and rare conditions, I speak in favor of SB374. Guacher's Disease is an inherited condition with a multitude of common manifestations that would not be considered as a diagnosis by nearly all physicians, much less pediatric subspecialists. Having it identified through the newborn screening process would ensure that these Virginians will be able to receive the appropriate treatments in a timely fashion. Dr. Peroutka clearly lays out the rationale for adding a newborn test to Virginia's current regimen: "Each condition added to the panel must meet three essential criteria: 1. The condition must be detectable before symptoms develop. 2. The testing must be accurate and reliable so affected infants are not missed. 3. There must be timely, effective treatment that improves outcomes. " I submit that Gaucher's Disease meets all 3 criteria: 1) It can be detected before symptoms develop; 2) The testing is accurate and reliable; 3) There is timely and effective treatment. And there is a major center in Northern Virginia to coordinate and assist in treating any identified child. While it could take time to develop the list of instructions for the family of a newly diagnosed child and their physician, models exist to make this an easy and rapid process. While passing this legislation may short circuit the usual procedures as outlined by Dr. Peroutka, I do not see a reason why delaying this diagnosis requires the additional administrative activities since it already meets the criteria to be added to the current list of newborn screening diseases. This is the most efficient and cost-effective means of diagnosing rare genetic conditions and we should not delay instituting it to ensure that the confirming administrative boxes are checked. Please pass SB374 and thereby assist all future Virginians with Gaucher's Disease by ensuring that they are rapidly diagnosed and treated. Thank you for your consideration.

Thank you for the opportunity to advocate today. I am one of only four metabolic physicians practicing in Virginia. I care for more than 500 patients with inborn errors of metabolism, and for the past six years I have actively volunteered with the Virginia Newborn Screening Program on multiple committees and implementation efforts. I care deeply about these patients and their families. I treat individuals with conditions such as Gaucher disease who endured decades of painful and prolonged diagnostic odysseys before receiving answers. I fully recognize that for families affected by rare diseases, any delay in newborn screening feels far too long. At the same time, I have been directly involved in the complex planning required to responsibly add one to two conditions to our state newborn screening panel each year. This process ensures that laboratories are validated, hospitals are prepared, pediatricians understand follow-up protocols, and systems are in place to guide families through diagnosis and treatment. Careful implementation is not bureaucracy — it is what protects babies. Newborn screening, established in the United States in the 1960s, exists for one central purpose: protecting children from the burden of inherited diseases. Each condition added to the panel must meet three essential criteria: 1. The condition must be detectable before symptoms develop. 2. The testing must be accurate and reliable so affected infants are not missed. 3. There must be timely, effective treatment that improves outcomes. These standards ensure that screening truly benefits children rather than creating harm, confusion, or inequity. For these reasons, I respectfully urge you not to circumvent Virginia’s established newborn screening process. Instead, I ask that any proposed additions move through the existing, evidence-based, and carefully vetted system already in place to safeguard our infants and families. Thank you for your consideration.