China Launches Nationwide Genomic Framework to Improve Rare Disease Diagnosis

In a groundbreaking effort to enhance the diagnosis of rare diseases, a comprehensive genomics study conducted across China has established a new diagnostic framework. The study, led by Peking Union Medical College Hospital, analyzed genetic data from 94,749 individuals from 42,703 families affected by various rare conditions spanning 32 provinces. Published in the Science Bulletin in August 2025, this large-scale project marks China’s first and most extensive genome-based initiative to understand and diagnose rare diseases.

The UPWARDS Project employed advanced sequencing technologies, including Whole-exome sequencing (WES) for 77% of patients and Whole-genome sequencing (WGS) for the remaining 23%, interpreting genetic variations based on international standards from the American College of Medical Genetics and Genomics (ACMG). Utilizing a novel five-level classification system (A–E), researchers achieved a diagnostic rate of nearly 30%, with some categories reaching over 50%, even in complex cases.

A key aspect of this initiative was family testing, which increased diagnosis success to nearly 40%. Patients with multi-organ symptoms or those from eastern and central regions showed higher detection rates. The project also identified regional genetic hotspots, such as the F8 gene in Guangxi and the DMD gene in Qinghai. Despite these advances, approximately 70% of cases remain undiagnosed, highlighting the ongoing challenges posed by genetic diversity and limited Whole-genome sequencing application.

The team envisions future steps involving multi-omics approaches like RNA sequencing and AI-driven data analysis to further improve diagnostic precision. They aim to build a national network integrating patient data, expert consultation, and clinical education, laying the foundation for a national Rare Disease Center. This program not only benefits Chinese patients but also supplies valuable data for the global rare disease community, bringing us closer to the goal of providing every individual with a clear diagnosis.

Source: https://medicalxpress.com/news/2025-09-genomics-rare-disease-diagnosis-framework.html