Dissecting Deadly Delays in Newborn Screening

By Amy Gaviglio, M.S., CGC
Short Term Follow-Up Supervisor-Minnesota Department of Health

Efficiency. This one word embodies much of the essence of Newborn Screening Programs, where the goal is to quickly identify at-risk children before symptoms begin. In order for a program to reach its goal of efficiency, several factors must fall neatly into place. First, the sample must be collected at the appropriate time (at least 24 hours after birth), given time to dry (at least 3 hours), then sent to the state testing lab as quickly as possible. Once at the lab, public health staff members use high-throughput screening methods to test the samples. If all goes well, abnormal results are available 3-5 days after birth and called out to the appropriate physicians and/or specialists shortly thereafter.  

But, the process doesn’t always go smoothly. The recent article in the Milwaukee Journal Sentinel (Deadly Delays) sheds light on the area where lags are most likely to occur: sending the samples from the birth facility to the state lab. As the article notes, though best practice guidelines recommend that newborn screening specimens arrive at the lab within three days of sample collection, many are arriving later – up to weeks later. And when this occurs, it prevents the system from working as efficiently as it should. In many cases, these delays have no significant impact, since most children have normal newborn screens. But for those children with a disorder, the extra time can mean the difference between long-term health problems and a relatively healthy life. 

In Minnesota, we are fortunate to have a robust screening program where we have implemented several measures for ongoing evaluation and improvement of our program in terms of transit times. First, follow-up staff members match screening specimens daily with electronic birth certificates. This allows the program to know quickly when a sample has not been received, so staff can contact the birth facility or midwife to determine the reason a sample is missing and help expedite follow-up accordingly. Second, the newborn screening program provides overnight courier services for hospitals that are unable to use their own couriers for delivery of specimens. MDH allows facilities to select both early morning and Saturday delivery. Providing this service accomplishes several things: 1) It helps prevent batching of specimens by facilities (batching saves shipping costs, but it causes delays in spending specimens); 2) it allows the program to track shipments; and 3) it allows facilities to choose options (like Saturday delivery) that are helpful to the efficiency of the screening process. And finally, laboratory staff here at MDH work six days a week and certified genetic counseling staff are on-call 24/7/365 in order to be available to call out positive results or provide consultation.

Despite these measures, improvements still can be made in Minnesota and nationwide. Locally, the Milwaukee Journal Sentinel report revealed several hospitals in Minnesota needing improvement. Many of these hospitals took it upon themselves to reach out to the MN Newborn Screening Program to discuss the best ways to improve; better mechanisms of ongoing communication and collaboration have been the result. This article, recently published in a local newspaper, illustrates how these new relationships have improved newborn screening in Minnesota: http://www.southernminn.com/st_peter_herald/news/article_0dff414b-8aea-5...

Sir Geoffrey Vickers once said, “Public health is the persistent redefinition of the unacceptable.”

The states’ newborn screening programs are vital to the health of our country’s children. The Journal article demonstrates the importance of reevaluation as a means to improvement. As newborn screening programs strive to monitor and adjust, to increase the speed and accuracy of delivery and testing, and to add testing for even more treatable diseases, the support from our state legislatures, the funding communities, and the general population becomes even more important to the well-being of our newest citizens and to the programs that protect them. 

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