Recommended Uniform (Newborn) Screening Panel (RUSP) Update
Newborn screening saves lives and improves the health and quality of life of children and their families. In 2020, over 4 million US babies were screened using a blood sample from the “heel poke test” shortly after birth. Newborn screening has been around since the 1960’s, and the list of recommended conditions screened for has expanded to over 50! Like a lot of other CMV parents and healthcare providers, I’d love to see congenital CMV added to that recommended panel. But we’ve got some work to do first.
The process of getting a condition included on the Recommended Uniform Screening Panel (RUSP) is a long one which includes gathering supporting data, submitting a nomination package to the Advisory Committee on Heritable Disorders in Newborns and Children, after which the nomination goes through a series of workgroups who review the evidence (I’m glossing over details here), and ultimately presenting a final report to the committee for a vote. At best this process takes 18 months, but more often it can take several years.
In the fall of 2018, the National CMV Foundation formed a sub-committee including CMV parents, researchers and public health experts, to create a nomination package. The shell of the application was submitted, however additional data was requested by the Committee. We thought about including the supporting data available at that time, but instead, we decided to take a well-intentioned, strategic pause. While this was frustrating for many of us who believe that CMV should
be on the RUSP because of their personal connection to CMV and/or many decades of professional experience, to get on the RUSP a condition needs strong scientific evidence that supports the benefit of screening, a good screening test, and the availability of effective treatments. The good news is that this evidence is coming!
The benefits of screening and availability of treatment for CMV are strongly supported by evidence already. Babies with CMV who are caught early can access early treatment – which includes anything from anti-viral medication, to early intervention services, to long term hearing and vision monitoring. Since 90% of symptomatic babies are missed at birth, universal screening would help identify both symptomatic babies who may benefit from medication, and also asymptomatic babies who are at higher risk of hearing loss in childhood. No brainer (in my humble opinion)!
The availability of a “perfect” screening test is the area where the data has been lacking – BUT also the area with a lot of exciting developments on the horizon. Now I’m no microbiologist and am far from fluent in the nitty-gritty of CMV screening tests, but I’ll share with you my understanding of what constitutes a good CMV screening test. First, it has to be really sensitive, meaning that the test has to detect a high percentage of babies with the condition. Second, the test needs to be able to be run quickly and/or in big batches – screening a lot of babies means running a lot of tests. Third, it needs to be affordable, ideally <$50 per test (less is better). To date, urine and saliva CMV tests have been found to be highly sensitive, and as result are used in many hospitals around the country. Saliva and urine tests require different samples than the typical heel poke test, also referred to as the Dried Blood Spot (DBS). In the past, DBS tests for CMV have not been sensitive enough, meaning babies with CMV would be missed if we screened for CMV this way.
Ongoing studies by the CDC and University of Minnesota are testing universal CMV screening using saliva, urine and DBS. Preliminary data has been encouraging from all three mediums. In addition, several new CMV tests are being developed by medical diagnostic companies (I’m sworn to secrecy, so you’ll have to just trust me on this one) that are highly sensitive and can be run in big batches. Additionally, there is incoming data from the successful, province-wide universal CMV screening happening in Ontario right now. These studies will provide us with data to strengthen our RUSP application.
After the package is resubmitted, it will be reviewed by committees made up of some of our nation’s top public health and pediatric scientists. Their jobs are to look at the entire public health landscape of a condition and evaluate the existing evidence as to whether newborn screening may be helpful and feasible. They examine what is known about the condition, but also what is unknown, often requesting additional details, data or perspectives. Like much of science, the process of a RUSP nomination should not be done hastily; the inclusion of a new condition, like CMV, requires careful and measured consideration of the available data
which takes time. Afterall, we want the best review of the evidence for CMV’s inclusion on the RUSP, and for that we’ve got to be patient (easier said than done).
I believe that the Advisory Committee on Heritable Disorders in Newborns and Children is made up of members dedicated to improving child health through newborn screening – they are not out to work against us. In order to convince Public Health scientists that CMV needs to be included on the RUSP, we need to speak their language – which is data, hard evidence and facts.
For many of us, at times it can be challenging to separate the science from the emotions and experiences driving our desire for universal screening. It took several months for my daughter to be diagnosed with CMV; she missed out on a critical window for anti-viral treatment. I will always be sad (and somewhat bitter, let’s be honest) wondering about how things may have been different if she’d been diagnosed at birth. While the mom in me wants to tell my daughter’s story to anyone who will listen to try to convince them to add CMV to the RUSP, the clinician-scientist in me knows that while feelings and individual stories can help present a strong case, evidence-based data is often the primary driver in these decisions. And we’ve got a plan for that.
~ Dr. Megan Pesch is a developmental pediatrician and researcher from Ann Arbor, Michigan where she lives with her husband and three daughters.
Category: Advocacy, Clinical, "Fueling Our Mission"