Amid the joy of a new birth, the reality is that even the healthiest-looking baby may latently carry a high-risk disease. Congenital metabolic disorders, for example, can cause a variety of symptoms, and even disability, if not swiftly treated. In response to this danger, KM Biologics, one of the 黑料门 Group's pharmaceutical companies, has for many years been conducting newborn screening. Furthermore, the company is also working with Kumamoto University to develop innovative new screening tests. Shinichiro Yoshida, of KM Biologics, tells us more.
Approaching a half-century of newborn screening
Congenital metabolic disorders are diseases in which an infant is born without the ability to properly metabolize nutrients, or with hormone secretion that is either excessive or deficient. Early detection and treatment can limit, or fully prevent, later illness and disability.
In Japan, newborn screening for congenital metabolic disorders and other diseases began in 1977, as a state enterprise. Publicly funded testing currently covers 20 different illnesses. KM Biologics is the only private company to have been involved in this program since its inception. To date, the business has screened some three million newborns.
"Presently, the local governments of Kumamoto, Fukuoka, and Saga prefectures commission us to undertake screening of around 60,000 newborns per year," says Yoshida. "We are proud to focus on newborn screening as one of our core activities, because it is something that contributes greatly to public wellbeing. It also benefits society from a sustainability standpoint."
Number of newborn screenings performed by KM Biologics
Expanded newborn screening: for early detection of a wider range of diseases
KM Biologics is also helping to develop and introduce "expanded newborn screening" that enables early detection of a greater number of diseases.
This self-funded test is being developed to detect congenital diseases that are not covered by publicly funded screening, but for which medical advances have enabled new tests and treatments. The expanded screening test is led by Kumamoto University Hospital's Department of Pediatrics, which is known for its research into congenital metabolic disorders. The test was launched in Kumamoto Prefecture in 2006, ahead of a nationwide rollout.
KM Biologics has been involved in this project from the beginning. Since 2014, the company has deepened its collaboration with Kumamoto University, with the aim of establishing the expanded screening test as a widespread, permanent service. This strengthened partnership involves joint research to improve testing methods and efficiency. So far, the initiative has developed testing methods for a number of diseases that are designated as intractable by the Japanese health authorities. These include lysosomal disease (LSD), a deficiency of degrading enzymes that causes symptoms in internal organs; severe combined immunodeficiency (SCID), which leads to recurrent infections; and spinal muscular atrophy (SMA), which progressively weakens muscles.
Together with Kumamoto University and specialist doctors across Japan, and with the cooperation of local authorities and associations, we have promoted the introduction of the expanded tests. This has achieved the early detection of each disease tested for.
"Intractable diseases such as SMA and SCID are extremely difficult to treat, once they have progressed. They therefore create a great deal of suffering for patients, as well as for families and medical staff," Yoshida explains. "However, new understandings of, and treatments for, such illnesses have been accompanied by tests that now allow early detection of a disease, before it progresses. This is enabling early treatment, and sometimes even complete cure."
Thanks to such pioneering efforts, the importance of expanded screening tests for LSD, SCID, and SMA has been recognized. In April 2022, Kumamoto Prefecture began partially subsidizing the cost of screening for these illnesses. This was the first time in Japan that a local government had subsidized expanded screening, and it gained much attention. Other prefectures are now following Kumamoto's lead.
KM Biologics currently provides expanded screening tests for the three above-mentioned disease groups (a total of seven diseases) to approximately 80,000 individuals annually, across Kumamoto, Fukuoka, Saga, and four other Japanese prefectures. The company is also working with Kumamoto University to develop testing systems for both adenosine deaminase (ADA) deficiency and adrenoleukodystrophy (ALD).
KM Biologics: an indispensable testing partner
Dr. Hiroyuki Tsuchiya
Director of Healthcare Clinic, Fukuda Hospital
Newborn screening was begun around 50 years ago, and with expanded screening it now covers a total of 27 different diseases. As a result of these tests, a growing number of children are able to live healthy lives despite carrying some elements of illness. Key to this achievement is cooperation between KM Biologics, as a testing facility, and families; obstetric care and other advanced medical facilities; and government agencies. The aim is that collaboration between these parties facilitates both early detection and patient-centered treatment.
We've heard directly from the mother of a newborn who was referred to a advanced medical facility for treatment, as a result of postnatal screening at our facility. She expressed great relief that her baby's ailment was detected early on. Going forward, I anticipate that KM Biologics will continue to play an active, indispensable role as our test partner—not only providing prompt and accurate testing, but also helping to evolve current methods while developing new ones.
Optimal testing and collaboration frameworks enable appropriate treatment
KM Biologics operates a dedicated facility, the Newborn Screening Center, where both newborn screening and expanded screening tests are conducted.
At the Newborn Screening Center, tests are performed using a range of state-of-the-art technologies.
Testing is carried out on blood taken from 4-to-6-day-old babies, which is collected at maternity hospitals. After soaked and dried blood filter paper is delivered to the Newborn Screening Center, it is examined for abnormalities using a variety of analytical equipment. Should there be any suspicion of disease, center personnel will immediately contact the maternity hospital and urge that the baby undergo thorough examination at a specialist medical facility.
"Our role is not only to ensure the accuracy of testing," explains Yoshida. "When a test returns a positive result, it is also our responsibility to refer patients for full examination. Especially with SMA cases, detection within one hour can influence the effectiveness of subsequent treatment, and even save lives. As soon as a positive result comes up, we simultaneously notify both the obstetric delivery facility and a specialist medical facility. We also provide support that enables the baby to receive a thorough examination, the following day at the earliest."
About 30 staff work at the center, forming the largest team of its kind in Japan. Roughly half of these personnel are nationally certified clinical lab technicians, and six highly skilled technicians certified by the Japanese Society for Neonatal Screening are also on staff.
To ensure that its high level of responsiveness continues, both equipment and personnel at the Newborn Screening Center operate at optimum efficiency. As Yoshida notes, staff morale is also high.
"The life of a baby can be at stake in the screening process," he emphasizes. "By detecting any potential risks at our facility, we can consistently provide early detection that enables prompt treatment. Accordingly, our team members work each day with a sense of both mission, and of urgency."
Driven by this passion, KM Biologics will continue to ensure that effective testing is properly carried out. In this mission, we recognize the importance of collaboration with medical associations, local and specialized clinical institutions including obstetric facilities, and the government. Through our work with Kumamoto University, we will also pursue the introduction of further new screening methods.
