AMED Expands Genome Analysis Program for Newborns with Unknown Illnesses

The Japan Agency for Medical Research and Development (AMED) is taking steps to boost its genome analysis program, specifically designed for newborns suffering from serious illnesses that lack clear causes. Starting this fiscal year, the agency will increase its number of diagnostic bases from one to two and will expand the total number of consultation locations from two to five. These actions are intended to facilitate quicker and more accurate diagnoses and treatments for newborns across Japan.

Currently, it is estimated that around 10% of infants in neonatal intensive care units (NICUs) face health issues with undetermined origins, which can complicate their treatment. To address this, the program involves collecting small blood samples from newborns in a manner that minimizes discomfort, followed by a thorough analysis of their genome to identify potential genetic mutations linked to their conditions. Medical professionals can then use this information to make informed diagnoses.

Launched in fiscal 2019, the initiative has grown to involve 136 hospitals across 45 prefectures, including the capital, Tokyo. By the conclusion of fiscal 2024, the program had evaluated 500 newborns, successfully diagnosing 255 of them, which is just over half of the total tested. Notably, one case identified leukemia in a child initially misdiagnosed with liver disease.

To enhance the speed of these analyses and safeguard against data loss from natural disasters, AMED is establishing genome analysis facilities in both eastern and western Japan. As of now, only Keio University Hospital has been conducting these genome tests, but AMED plans to incorporate Okayama University Hospital into the program within this fiscal year.

In increasing the number of consultation facilities, the program will shift from two currently located at Keio University and Okayama University to five. AMED aims to implement these enhancements by fiscal 2026 and establish online resources for parents to receive explanations about their babies’ conditions.

It is important to note that only about half of hospitals nationwide have both neonatology specialists and genetic counselors available as full-time staff. For cases originating from hospitals without these specialists, the newly expanded consultation bases will handle them. However, scheduling consultations can sometimes pose challenges, necessitating that parents travel to these locations, which may be far from their homes. Professor Toshiki Takeuchi from Okayama University, who specializes in pediatric neurology and is involved in the program, expressed a desire to improve the overall process, stating, “By increasing the number of bases, I want to prepare circumstances for smoother diagnoses and treatments.”