We will be posting a series of summaries from our 2015 researcher meeting, highlighting some of the most interesting new developments and discoveries presented there. This update covers a session on newborn screening. The session was moderated by Kathryn Swoboda, MD.
Newborn Screening for SMA: Ethics, Rationale, and Implementation
Data generated in mouse models of SMA indicates that drug delivery is most effective when given early. Therefore, the SMA research community is actively engaging in ways to pursue newborn screening (NBS) for SMA.
A federal committee makes recommendations on which diseases newborns should be screened for, but the decisions are controlled at the state level. In 2008, the SMA community submitted a nomination for SMA to be added to the Recommended Uniform Screening Panel, also called RUSP.
In their response, the committee indicated that for SMA to be considered for the panel the following would be needed : (1) pilot data at a state lab level, and (2) more information on what drugs and treatments are available, and how individuals with SMA could benefit from earlier administration of these drugs and treatments.
Three talks were given during this session on the state of newborn screening for SMA. Robert Vogt, PhD, from The Centers for Disease Control and Prevention started off the session by describing the history of NBS in the US. In 1963, the NBS program was started to screen for the disease Phenylketonuria (PKU). More recently, the first DNA-based newborn screening test for Severe Combined Immunodeficiency (SCID) was added to the RUSP. The screening test for SMA would also be a DNA-based test, and use similar methodology, making the situation for SCIDs very relevant to SMA.
In fact, Dr. Vogt’s group has been working on developing a NBS test for SMA, which he described in his talk. They have recently published the validation of this test in a paper called “Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCY to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency” in the journal Clinical Chemistry.
Next in the session, Kathryn Swoboda, MD, Professor of Neurology at Massachusetts General Hospital, discussed the results of her NBS state pilots for SMA in Utah and Colorado, funded by NICHD at NIH. She discussed that one of the challenges of implementing a newborn screening pilot is the consent process, which can be time consuming and expensive. Currently, over 25,000 newborns were screen in Utah and Colorado, using different consent processes. However, no babies have tested positive for SMA.
Closing out the session, Thomas H. Murray, PhD, President Emeritus of The Hastings Center discussed the ethical considerations for newborn screening. The main ethical rational for NBS is to benefit the child when serious harm that would not otherwise be detected can be prevented, when irreversible damage can be prevented, or when means are available to help the child. In order to qualify for the RUSP, a condition would need to demonstrate the following: evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments.
He concluded with the following statement, “We have an opportunity to contribute to creating a system of newborn screening that is ethically sound, scientifically grounded, and continuously self-examining. This system can and should assure that genetic information is used for the good of children and families.”
Pictured above: Thomas Murray and Kathryn Swoboda at the newborn screening panel.