Rapid Whole-Genome Sequencing Cuts Severe Neonatal Rare Disease Diagnosis From 5 Years to 5.5 Days

Rapid whole-genome sequencing (搜索)搜索该靶点 (Rapid WGS) can now complete genetic testing that previously took 4–6 weeks in just 5.5 days, a breakthrough that directly addresses the life-or-death urgency facing critically ill newborns with suspected rare genetic diseases. Park Mi-hyun, public health researcher at the Division of Genomic Technology Development, National Institute of Health (NIH Korea), presented the findings at the "Korea Science Journalists Association–National Institute of Health 2026 2nd Science Media Academy" held at the HJ Business Center in Seoul on the 24th.

"Forty-one percent of infant deaths are associated with genetic diseases, and for critically ill newborns with rare diseases, early diagnosis is directly linked to survival, as their condition worsens day by day," Park said.

The Diagnostic Odyssey and the Need for Speed

Conventional genetic testing presents a major limitation when making treatment decisions for critically ill babies. "Conventional tests take as long as 4–6 weeks to deliver results, which is a major limitation when making treatment decisions for critically ill babies," Park explained. "Through a pilot study, the National Institute of Health has established a rapid whole-genome sequencing (搜索)搜索该靶点 system that completes diagnosis in an average of 5.5 days, securing the golden time for sick newborns."

Rapid WGS is a technology that reads and analyzes the 3 billion genomic data points humans possess all at once. Unlike traditional genetic testing, which takes several weeks and often requires repeated additional tests, Rapid WGS provides comprehensive information related to genetic diseases through a single test.

Professor Jang Yoon-sil of the Department of Pediatrics and Adolescent Medicine at Samsung Medical Center查看公司主页, who leads the project in clinical practice, described the frustration that preceded the technology's introduction. "In the neonatal intensive care unit (NICU), babies' conditions deteriorated rapidly, but we didn't know why and couldn't make a diagnosis, which was extremely frustrating," Jang said. "For typical rare genetic diseases, families experience a 'diagnostic odyssey' that takes an average of five years to reach a diagnosis, and this period is a tremendous ordeal for both parents and medical staff."

Clinical Results and Program Expansion

The National Institute of Health's rapid genome analysis program for critically ill newborns began in 2024 as a single-center pilot project, then expanded to a project involving 6 institutions in 2025 and 12 institutions in 2026. According to results achieved so far, clinical findings have revealed a genetic cause in 40% of these patients.

Beyond diagnosis, the approach offers additional clinical advantages. It allows clinicians to avoid invasive needle-based tests, and the genome analysis process can predict risks such as cancer and heart disease in advance, enabling preventive medical management.

"If we meet this year's target, in two years more than 200 families with critically ill newborns will be able to benefit from precision medicine," Park projected.

Toward Nationwide Adoption and Insurance Coverage

This project represents the first attempt to adapt rapid genome diagnosis systems—already in place in advanced countries such as the United States, the United Kingdom, and Australia—to Korea's clinical setting and to build an evidence base for integrating them into the care pathway.

"Preliminary analyses show that rapid WGS shortens hospital stays and delivers tangible reductions in medical costs," Jang said. "We hope this system will be rolled out to hospitals nationwide and ultimately be covered by the national health insurance system, so that many more sick newborns can have their lives saved."

Genome-Wide Newborn Screening Launched

In a parallel initiative, the National Institute of Health, under the Korea Disease Control and Prevention Agency (搜索)搜索该词条, announced on September 7 that it has officially begun recruiting participants for the "Genome-wide Sequencing-Based Newborn Screening Study." This study aims to analyze the whole genome of healthy newborns within 28 days of birth to detect and treat treatable genetic diseases at an early stage, and to validate the clinical utility of genome-based screening tests.

Since April, the National Institute of Health completed preparations including forming a multidisciplinary consortium, obtaining Institutional Review Board (IRB) approval, and establishing recruitment and counseling systems. The plan is to enroll 500 newborns in the first year, with a total of 1,800 participants to be recruited by 2028.

Currently in Korea, newborn screening is limited to certain conditions, such as congenital metabolic disorders and hearing screening. With recent advances in genomic analysis technology, there is growing demand for genome-wide screening that can diagnose many rare genetic diseases at once. The National Institute of Health established a foundation for newborn genome screening research last year through a pilot project, which included selecting target diseases and genes, developing patient consent systems, and clinical guidelines.

Im Seungkwan, Commissioner of the Korea Disease Control and Prevention Agency (搜索)搜索该词条, stated, "The earlier a rare genetic disease (搜索)搜索该疾病 is detected, the more significant the effects of treatment and the prognosis, making it especially important to establish an accurate diagnostic system during the newborn period." He added, "We will actively support efforts to shift the paradigm of rare genetic disease management from treatment after onset to early detection and prevention."