Research on the domestic innovation trends of genetic disease biomarkers from a patent perspective

摘要：

基于专利文献数据研究我国遗传病生物标志物领域专利申请的现状及特点，对涉及家系研究的生物标志物领域从专利申请人、所研究的遗传性疾病、生物标志物涉及的基因以及研究手段等方面进行文献标引和特征分析,研究发现该领域的专利申请呈现出申请量随测序技术的发展和应用明显增加、申请的发明过程主要基于临床案例研究以及大量研究仅涉及基因测序及生物信息学分析而缺乏对标志物致病性或致病机制的生物学实验验证的特点,研究结果表明该领域的科研探索应充分考虑上述研发特点及创新趋势,在积极开展基于测序技术的遗传病生物标志物研究时,注重将研究模式从对标志物的高通量筛选逐步过渡为对标志物的致病性及致病机理的深人探究，从创新源头提升生物标志物领域发明的质量,推动我国遗传病诊断筛查产业蓬勃而有序地发展.

Based on patent literature data, this study investigates the current status and the characteristics of patent applications in the feld of genefic disease biomarkers in China, It conducts literature indexing and feature analysis on the biomarker field involving family-based studies, focusing on patent applicants, genetic diseases studied, genes involved in the biomarkers, and research methods. The study finds that patent applications in this field have significantly increased with the develop-ment and application of sequencing technologies, the inventive process of these applications is mainly based on dlinical case studies, and a Iarge number of studies itnvolve only gene sequencing and bioinformatics analvsis.Iadking biological experimental validation of the pathogenicity or pathogenic mechanisms of the biomarkers, The research results indicate that scientific research in this field should fully consider the 

above-mentioned development characteristics and innovation trends, While actively conducting genetic disease biomarker research based on sequencing technologies, it is important to shift the research model from high-throughput sereening of Liomarkers to in-depth investigation of their pathogenicity and pathogenic mechantsms. This will en-hance the quality of inventions in the biomarker field at the source of inmnovation and promote the vigorous and orderly develop-ment of Chinese genetic disease diagnosis and screening industry.

作者:

鲁璟哲,代绍兴,杨耐雪

Lu Jingzhe,Dai Shaoxing,Yang Naixue

机构地区：

国家知识产权局专利局医药生物发明审查部；昆明理工大学灵长类转化医学研究院

引用本文：

鲁璟哲，代绍兴，杨耐雪。基于专利视角的遗传病生物标志物国内创新态势研究[J].河南师范大学学报(自然科学版),2026,54 (1):134-138.(Lu Jingzhe, Dai Shaoxing, Yang Naixue, Research on the domestic innovation trends of genetic disease biomarkers from a patent perspective[J].Journal of Henan Normal University(Natural Science Edition).2026.54(1):134-138.DOI:10.16366/j.cnki.1000-2367.2025.01.06.0001.)

基金：

云南省教育厅科学研究基金

关键词：

专利分析；生物标志物；家系研究；基因组测序

patent analysis; biomarker; family study; genome sequencing

分类号：

Q319.3

基于专利视角的遗传病生物标志物国内创新态势研究.pdf