Zhongke Gene: Led by Academicians to Build an Integrated 'Industry-Academia-Medicine-Research' ICL Platform, Ushering in the Era of New Medicine

Third-party medical testing is a key manifestation of precision medicine serving the market.

Third-party medical testing is a mature industry abroad. In the United States, approximately 40% of tests are conducted in independent laboratories, while 60% are performed in hospital-affiliated laboratories, university laboratories, and other laboratory settings.

The share of independent laboratories in Germany is as high as 60%, and in Japan it has reached 67%, while in China it currently stands at only 4%.

The emergence of third-party medical testing in China has spanned only a little over two decades. According to CMIC statistics, the compound annual growth rate (CAGR) of sales for third-party medical testing reached 63% from 2006 to 2010, maintained an average annual growth rate of approximately 45% during 2011–2012, and remained at around 35% per year from 2012 to 2016.

Although the market is growing at an extremely rapid pace, it currently accounts for only 4% of the medical laboratory industry’s market share. The deepening healthcare reforms and the entry of non-state capital will drive the medical laboratory sector toward marketization and intensification. China’s independent clinical laboratory market holds immense potential and is poised for rapid development.

Haimen Zhongke Gene Biological Technology Co., Ltd. is a high-potential enterprise within this promising market. Founded under the leadership of an academician, the company is dedicated to building a platform based on precision medical services, with a focus on the precise prevention, diagnosis, and treatment of genetic diseases and cancer."Industry-Academia-Medicine-Research"An integrated collaborative innovation platform, holding qualifications for a third-party medical laboratory.

Currently, Zhongke Gene has established comprehensive testing platforms for first-generation sequencing, next-generation sequencing (NGS), third-generation sequencing, qPCR, and MassARRAY. Focusing on genetic diseases, oncology, reproductive health, age-related diseases, health management, and immunotherapy, the company provides clinical testing and research services, including precision diagnostics, personalized medication safety guidance, and disease early warning. Let us examine its specific development and strategic layout.

Zhongke Gene, established in 2016, is a genetic testing company founded by a team of scientists led by academicians of the Chinese Academy of Sciences, genetic biologists, and medical experts, and holds qualifications as a third-party clinical laboratory.

Co-founder and Chief Scientist He Lin is an Academician of the Chinese Academy of Sciences., genetic biologist, Academician of The World Academy of Sciences (TWAS), Chief Scientist of the National 973 Program, and Dean of the Bio-X Institute at Shanghai Jiao Tong University. Academician He Lin has unraveled a century-old mystery in genetics that has drawn worldwide attention—the first case of Mendelian autosomal genetic disease—and pioneered the precise mapping, cloning, and mutation detection of the pathogenic gene for Brachydactyly Type A-1.

Academician He Lin also discovered the world’s first case of an autosomal dominant disorder characterized by rare congenital absence of permanent teeth, named “He-Zhao Deficiency Syndrome” after the Chinese surname He. This discovery ended the embarrassing situation in which China, despite being a major country with abundant genetic resources, had never previously identified and named a genetic disease. He established the world’s largest biobank for neuropsychiatric disorders and utilized this resource to systematically analyze susceptibility genes for schizophrenia in the Chinese population. Furthermore, he was the first in China to propose the novel concepts of the “Single-Target Genome Project” and “New Medicine.”

Professor Ma Duan, Co-founder, Chairman, and Chief Medical OfficerHe/She is a Leading Talent of Shanghai, an Outstanding Academic Leader of Shanghai, and a Shuguang Scholar of Shanghai.

Professor Ma Duan’s research focuses on the pathogenesis and early prevention and treatment of genetic disorders. He serves as Deputy Director of the Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Fudan University; Deputy Director of the Birth Defects Research Center, Fudan University; Vice Chairman of the Medical Genetics Branch of the Chinese Medical Association; Vice President of the Precision Medicine Branch of the China Health Management Association; Vice Chairman of the Clinical Genetics Committee under the Medical Genetics Branch of the Chinese Medical Doctor Association; Immediate Past Chairman of the Medical Genetics Branch of the Shanghai Medical Association; Chairman of the Gene Health Committee of the Shanghai Health Science and Technology Association; and Designated Chairman-elect of the Rare Diseases Branch of the Shanghai Medical Association.

Professor Ma Duan has presided over more than 40 national and Shanghai-level research projects; he has published more than 280 papers in journals such as The Lancet, Blood, Nature Communications, Oncogene, PLOS Genetics, Human Molecular Genetics, and Human Gene Therapy, including more than 170 SCI-indexed articles.

He also served as Editor-in-Chief of Frontiers in Biological Technologies and Their Applications in Medical Research, Clinical Genetics, Deciphering the Genetic Code of Diseases, and Introduction to Metabolic Molecular Medicine, and as Associate Editor-in-Chief of Genetic Counseling Today and Industry Standards and Guidelines for Prenatal Diagnosis of Common Birth Defects. He holds 10 invention patents from China and the United States.

Dr. Xin Jiang, Co-founder and CEO, formerly worked at the Drug Safety Evaluation Research Center of Shanghai University of Traditional Chinese Medicine, serving as Director of the Pathology Department, Associate Professor of Pathology, and Associate Researcher in Integrative Traditional Chinese and Western Medicine, engaged in drug safety evaluation during new drug development.

Dr. Jiang Xin has been granted 10 invention patents as a principal inventor, published numerous academic papers in SCI-indexed and core journals, and led or participated in multiple research projects. She contributed to the editing of books such as Fundamentals of Human Medicine and Practical Methods and Techniques in Toxicologic Pathology. Dr. Jiang holds multiple independent intellectual property rights in fields including bioinformatics big data technology and liquid biopsy technology, with some of these technologies having achieved industrialized clinical application.

In addition to the aforementioned Academician He Lin, Professor Ma Duan, and Dr. Jiang Xin, Zhongke Gene’s research and management team includes Chief Technology Officer Dr. Zhao Dezhi, Chief Data Officer Dr. Dai Fangping, Deputy General Manager of Administration Shao Changchun, and Chief Scientific Advisor for Immunotherapy Dr. Hao Xiaoyong. The company is led by seasoned experts in genetics, drug evaluation, product registration, gene sequencing, and immunotherapy.

Supported by a multidisciplinary team of experts, Zhongke Gene has achieved significant academic accomplishments and actively advanced various initiatives in discipline development and scientific research.

Zhongke Gene pioneered the launch of its Super Panel genetic disease testing product, CapTruth Human Exome Panel 2.0, which leads the industry in capture efficiency, GC bias, and probe coverage uniformity. Designed for genetic disease diagnosis, this product achieves comprehensive coverage of all exonic regions and selected intronic regions of all reported pathogenic genes.

This product comprehensively detects exon region variants, reported pathogenic medium-to-long fragment variants (particularly in UTR and intron regions), CNVs and mitochondrial gene variants, as well as MLPA of key genes. Its clinical detection positivity rate is significantly higher than the average, addressing limitations that traditional panels and whole-exome sequencing fail to resolve.

As a third-party medical testing laboratory, Zhongke Gene also provides AngTruth-seq, its independently developed comprehensive NGS solution.^TMThe series encompasses a comprehensive range of kits covering the entire workflow from nucleic acid extraction, library preparation, hybridization, to capture. Leveraging years of extensive experience in probe design, we have developed PanTruth Panel, a versatile next-generation sequencing (NGS) detection product applicable to routine testing, fusion detection, microsatellite instability (MSI) analysis, methylation profiling, single nucleotide variant (SNV) detection, and copy number variation (CNV) analysis. The system achieves both sensitivity and specificity exceeding 99.5%.

SuUMI library preparation-based liquid biopsy technology, independently developed by Zhongke Gene, can detect gene mutations at a frequency of 0.1%, placing it at the forefront of the industry. In the field of neoantigen immunotherapy, Zhongke Gene has also made forward-looking strategic investments, including its independently developed large-panel tumor detection assay—Angone^TMPlus, it can simultaneously detect 818 genes to comprehensively assess targeted therapy, PD-1 immunotherapy, radiosensitivity and chemosensitivity, hereditary risk, germline mutations, neoantigens, HLA typing, and HLA loss of heterozygosity (HLA-LOH).

Its whole-exome capture product, the CapTruth Human Exome Panel 2.0, in addition to its application in diagnosing genetic disorders, can simultaneously detect various types of genetic alterations, including single nucleotide variants (SNVs), short insertions and deletions (Indels), gene fusions, copy number variations (CNVs), tumor mutational burden (TMB), and microsatellite instability (MSI). It effectively covers the detection of loci required for clinical pharmacogenomics. Furthermore, by leveraging a proprietary neoantigen algorithm, it outputs high-affinity personalized neoantigens and predicts and evaluates the efficacy of immune checkpoint inhibitors through HLA typing and HLA loss of heterozygosity (HLA-LOH) analysis.

Meanwhile, Zhongke Gene also undertook the construction of projects such as the China Single-Target Genome Project, the China Deafness Genome Project, the largest hereditary kidney disease database in China, and the public welfare project for assisting children with autism.

Corporate partner hospitals, research institutions, and organizations include the Chinese Society of Genetics, Chinese Medical Doctor Association, Branch of Medical Genetics of Shanghai Medical Association, Branch of Rare Diseases of Shanghai Medical Association, China Association for Maternal and Child Health Studies, Harbin Medical University Cancer Hospital, Peking Union Medical College Hospital, Beijing Tiantan Hospital Affiliated to Capital Medical University, Peking University Institute of Urology, Qilu Hospital of Shandong University, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Zhongshan Hospital Affiliated to Fudan University, Huashan Hospital Affiliated to Fudan University, Shanghai Children's Medical Center, Children's Hospital of Fudan University, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou Shulan Hospital, Henan China Resources Pharmaceutical, Shandong Luye Group, Shandong Urologists Group, Digital China Healthcare, Unicorn Weiyi Network, Tongcheng Big Health, etc.

Based on the medical applications founded on Zhongke Gene’s “research” and “education,” the company’s current medical product portfolio covers the entire human life cycle, “from birth to old age.”

It begins with the start of life, namely pre-conception and prenatal screening.Currently, the incidence of birth defects in China is as high as 5.6%, with approximately 900,000 infants born with congenital defects each year. According to hospital records, the annual economic burden attributable to birth defects in China exceeds RMB 14.2 billion. Furthermore, with the implementation of policies such as the three-child policy, the market for preconception and prenatal screening is expected to expand accordingly.

Zhongke Monogenic Disease Screening Project utilizes a combination of multiple patented technologies to detect a wide range of mutations.: Point mutations, deletions/duplications, gene fusions (CYP21A2), Fragile X-associated CGG tandem repeats, inversion mutations (F8), etc.; the detection rate for mutations can reach up to 99%, effectively “targeting” birth defects.

Furthermore, there is the screening and diagnosis of inherited metabolic disorders (IMD) in newborns.In 2020, China recorded 12 million live births. Assuming a 25% penetration rate for newborn tandem mass spectrometry screening at a unit price of RMB 280 per test, the potential annual market size would be RMB 900 million. Similarly, assuming a 20% penetration rate for genetic screening of hereditary diseases at a unit price of RMB 1,500 per test, the potential annual market size would be RMB 4.5 billion.

It can be widely applied to the detection of neonatal hereditary diseases, the diagnosis of genetic disorders, and the auxiliary diagnosis of certain common diseases.The Zhongke Single-Gene Disorder Screening Program has become a critical tool for the diagnosis, prevention, and management of rare diseases. It provides valuable references for clinical diagnosis, improves diagnostic rates, shortens the time to confirmed diagnosis, and reduces diagnostic costs. Through confirmation via the Zhongke single-gene testing program, data on patients with the same category of rare diseases can rapidly reach a significant scale, thereby facilitating scientific research into these conditions.

Tandem mass spectrometry (MS/MS) is the primary method for newborn screening of inborn errors of metabolism (IEM), while next-generation sequencing (NGS) is an emerging technology for the diagnosis of IEM in neonates. The combined application of gene sequencing and metabolite detection may significantly improve the detection rate of IEM in newborns.

Next is the strategic layout for pediatric diseases.According to data from the Children's Hospital of Fudan University, the incidence rate of pediatric hematuria in outpatient clinics is 4–6 per 10 visits, with a diagnostic rate for Alport syndrome of 3–5 per 100 cases. Based on the 2020 census results, the population aged 0–14 accounts for 18% of the total. Given an estimated pediatric hematuria prevalence of approximately 3–4% and an average testing cost of RMB 1,000, the current market size is estimated at RMB 7.8 billion to RMB 10 billion.

Zhongke Gene’s Alport Syndrome Screening Project, centered at the Children’s Hospital of Fudan University and extending its reach nationwide, officially held a single-center thematic project launch meeting in August this year, followed by the national project launch meeting in October.

Finally, the product market layout for adults.According to the "Report on the Current Status and Development of Care Services for Elderly People with Dementia," there are over 10 million Alzheimer's disease (AD) patients among those aged 60 and above in China. The number of AD patients in China is projected to reach 22.2 million by 2030 and 28.98 million by 2050.

Zhongke Gene, in collaboration with Beijing Tiantan Hospital affiliated to Capital Medical University and Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, is developing a product that integrates genetic testing with AI technology for the prediction and diagnosis of Alzheimer’s disease (AD). This initiative will facilitate the identification of early-onset and familial AD, while also predicting the risk of familial AD and the severity of cerebral amyloid angiopathy. Through early detection, prevention, and intervention strategies, it aims to enable lifestyle modifications that reverse AD progression, combat neurodegeneration, and reduce neural damage.

In addition to the aforementioned specific lifecycle layout,Zhongke Gene’s medical applications also span molecular testing for genetic disorders, molecular diagnostics for tumor companion diagnosis and treatment, molecular diagnostics for precision medication, disease warning and risk assessment, as well as research services. The company collaborates with prestigious institutions including Harvard University, the University of Cambridge, Shanghai Jiao Tong University, Fudan University, and the Chinese Academy of Sciences.

The industrial layout follows from the scientific research and medical foundations.Zhongke Gene’s sales performance had previously achieved near-doubling growth for five consecutive years.: Sales revenue was approximately RMB 10 million in 2017, over RMB 21 million in 2018, and over RMB 38 million in 2019; in 2020, sales revenue exceeded RMB 66 million, surpassing the break-even point.This year will see over 100 million in revenue and tens of millions in profit.

During the severe phase of the COVID-19 pandemic,Zhongke GeneAs the first third-party medical testing laboratory in the Nantong region primarily focused on molecular diagnostics,Undertook the COVID-19 nucleic acid testing work in the Nantong region.; Nationwide (including Wuhan, Beijing, Xinjiang, Hebei, and Nantong), a cumulative total of over 5 million nucleic acid tests have been completed, with a maximum daily throughput of 38,000 tubes (equivalent to 380,000 individuals).

Previously, Zhongke Gene completed its Series A financing round in 2020, raising tens of millions of yuan, and planned to close its Series A+ round this year to accelerate the development of its industrial infrastructure. To date, Zhongke Gene has obtained six medical laboratory licenses.

In terms of industrialization, Zhongke Gene has invested nearly RMB 100 million in technical services, product development, and the construction of a medical testing service platform, with its laboratory in Haimen, Nantong, covering a building area of 3,435 square meters.

Meanwhile, the biopark where Zhongke Gene is located has invested over RMB 80 million to actively build a public experimental service platform for biopharmaceuticals, featuring commonly used biochemical analysis and testing equipment such as chromatography, spectroscopy, gas chromatography-mass spectrometry (GC-MS), nuclear magnetic resonance (NMR), and PCR amplification systems, thereby providing a solid foundation for Zhongke Gene’s testing laboratory.

Recently, Zhongke Gene initiated the renovation of a facility spanning over 3,000 square meters, actively advancing the construction of a new R&D base, a pathology diagnosis center, and GMP-compliant production workshops, as well as the development and regulatory registration of in vitro diagnostic (IVD) kits.

Regarding the company’s development vision, Dr. Jiang Xin, Co-founder and CEO, stated, “Zhongke Gene is committed to achieving early warning, precise diagnosis, and personalized treatment for all genetically related diseases with clearly identified pathogenic and susceptibility genes; and to accurately predicting drug efficacy and adverse effects for all medications influenced by pharmacogenetics. We aim to promote the development of precision medicine in China by establishing a high-quality service system.”