To Ensure Not a Single Sign is Missed among Tens of Thousands of Newborns
Three Shimadzu Group Companies Tackle Life-Saving Testing
Laboratory technologists handle dried blood spots (DBS) collected from newborns around five days old with exceptional care. The test begins by reading minute numerical variations in the faint dried trace left by a single drop of blood taken from a tiny heel. A tense period unfolds, as the result may directly impact the newborn’s life.
- What is Newborn Mass Screening?
- New Tests for the Early Detection of Rare Diseases
Expanded Newborn Mass Screening - Three Companies Collaborate towards a Seamless, End-to End Implementation
- Overcoming Challenges in Reagent Development Solutions Driven by Root Cause Analysis
- Establishing a Hygiene Testing Laboratory for Entering the Market
- Comment from the Person in Charge
What is Newborn Mass Screening?
In Japan, nearly all newborns are screened for 20 conditions through the publicly funded newborn mass screening program. The goal of the system is to identify congenital metabolic disorders and other inherited diseases at an early stage and connect babies to appropriate treatment immediately. As the name suggests, this is a screening test. If a positive result is suspected, then secondary testing and diagnosis are conducted before proceeding to treatment.
New Tests for the Early Detection of Rare Diseases
Expanded Newborn Mass Screening
Advances in research have brought new treatment options for diseases once considered extremely difficult to treat.
Severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and lysosomal storage diseases are rare, but stem-cell transplants, gene therapy, and nucleic acid therapeutics now make treatment possible. The expanded newborn mass screening program is an initiative to detect these diseases at an early stage.
At present, the expanded newborn mass screening program does not provide nationwide publicly funded testing for all newborns in the way that traditional newborn mass screening does. However, for SCID and SMA, the government is leading a trial program to evaluate and build the framework for adding these conditions to the publicly funded screening program nationwide. Municipalities may choose to participate, and the project serves to validate the system and prepare it for full-scale implementation.
Kyoto Prefecture and Kyoto City joined this trial in April 2025 and established a system enabling all newborns to receive newborn mass screening for SCID and SMA.
Three Companies Collaborate towards a Seamless, End-to End Implementation
The Shimadzu Group collaborates in three areas—instruments, reagents, and testing operations—to advance both newborn mass screening and expanded newborn mass screening.
Shimadzu Corporation has long supplied analytical instruments, including LC–MS (high-performance liquid chromatograph mass spectrometer) systems, for newborn mass screening. Furthermore, during the COVID-19 pandemic, it also developed and marketed the AutoAmp fully-automatic PCR system and PCR reagents for COVID-19, improving the testing efficiency at testing sites.
Shimadzu Corporation team members
Shimadzu Diagnostics has developed the TKSneoFinder PCR reagent kit for expanded newborn mass screening.
Shimadzu Diagnostics team members
Shimadzu Techno-Research has extensive PCR testing expertise built up during the COVID-19 pandemic and maintains a high-quality testing environment as a certified hygiene testing laboratory.
Shimadzu Techno-Research team members
Overcoming Challenges in Reagent Development Solutions Driven by Root Cause Analysis
Members of Shimadzu Diagnostics’ reagent development team reflect on that time.
The testing sites evaluating the reagents provided extensive feedback and made many requests for improvements. Many pointed out that “There are too many false positives (positive results for infants without any disease) for diseases that only affect one in ten thousand or one in a hundred thousand births” and “The test results show too much variation.” There were even times when our attempts to make improvements made things worse, and we found ourselves uncertain about the next steps.
Therefore, the team took a step back to investigate the root cause calmly and thoroughly. By improving the quality of the raw materials used in reagent manufacturing and increasing quality inspections during shipment, we were able to provide stable reagents.
Establishing a Hygiene Testing Laboratory for Entering the Market
To participate in the expanded newborn mass screening program, Shimadzu Techno-Research needed to handle the 20 conditions covered by existing publicly funded screening and also meet the additional requirements set by local governments. The requirements, established to ensure not even a single case among tens of thousands of tests was missed, were extremely demanding.
By leveraging PCR testing expertise gained during COVID-19 testing operations and obtaining registration as a hygiene testing laboratory, Shimadzu Techno-Research met requirements set by Kyoto Prefecture and Kyoto City and successfully entered the newborn mass screening market.
One of the staff members in charge recalled the time and talked about it.
In preparation for undertaking newborn mass screening commissioned by Kyoto Prefecture, we established the necessary facilities, equipment, and procedures, and implemented accuracy-control data to ensure the technical skills of our testing personnel and the quality of tests. However, additional steps were needed before testing could actually begin.
Newborn mass screening uses dried blood spots (where the newborn’s blood is absorbed onto filter paper) as the sample and is sent to the testing facility by mail. Since each facility uses different reagents and equipment for this test, there are no nationally standardized reference values. Each facility must independently set its own cutoff values (the thresholds for making judgments).
Therefore, with the cooperation of Kyoto Prefecture, we measured and analyzed 1,787 dried blood spot samples previously collected from newborns within one month. As a result, we were able to determine an appropriate cutoff value at our facility and ultimately established the testing system.
Throughout these preparations, we were reminded that earning the trust required for testing that may affect the entire course of a newborn’s life demands strict, consistent diligence.
“We continue testing each day with a deep sense of responsibility—to identify the rare signs that appear in only one child in tens of thousands and connect that child to timely medical care.” With this in mind, Shimadzu Techno-Research handles publicly funded testing for Kyoto Prefecture, building a system capable of meeting the trust placed in us by the local community. Moving forward, Shimadzu aims to strengthen the synergy among its three companies and further improve testing accuracy and stability by incorporating insights gained from the field into its instruments and reagents.
This initiative, where each of the three companies leveraged their respective strengths to deliver testing that protects lives, was highly praised as a team effort driven by dreams and aspirations, and which actively put our corporate philosophy and management principle into practice. As a result, the project was selected for the Shimadzu in-house “First a Dream Award.”
Team members at the First a Dream Award ceremony
Comment from the Person in Charge
The ability to provide a seamless, end-to-end solution from reagent development to testing is a unique strength of the Shimadzu Group. At the Shimadzu Techno-Research’s testing site, we perform tests every day on newborns whose lives are entrusted to us. The insights gained here are incorporated into Shimadzu Corporation’s instruments and analysis systems, while Shimadzu Diagnostics translates on-site needs into improved PCR reagents. We hope to contribute to healthcare for newborns around the world with products and reagents based on the know-how we have gained through this project.
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