KaiAng Medical Files IPO Prospectus Highlighting Its All-in-One Aggregated Genetic Testing Platform with 200-Fold Enhanced CNV Detection Accuracy for Inherited Disorders
As a leader in the field of genetic diagnosis for hereditary diseases in China, KAIUMPIH has provided diagnostic services to more than 5,000 patients through its self-developed multiplex detection technology, including many cases that left a deep impression on the company’s team:
A 7-month-old infant presented with “recurrent seizures” and, throughAggregation Detection TechnologyIt was found that the patient had epileptic encephalopathy type 17 caused by a pathogenic variant in the GNAO1 gene. Meanwhile,Aggregation Detection TechnologyA mutation associated with drug-induced hearing loss was detected in the mitochondrial circular genome. Genetic counseling helped avoid the risk of aminoglycoside-induced hearing loss.
A 12-month-old infant presented to the Department of Cardiac Surgery with a diagnosis of “congenital heart disease, ventricular septal defect” and was scheduled for surgical treatment. Preoperative physical examination revealed abnormal muscle tone, and genetic testing was recommended following consultation with the Department of Neurology. Targeted sequencing identified an approximately 20 kb deletion in the region chrX:153051727-153073594 on the X chromosome, encompassing three genes: IDH3G, SSR4, and PDZD4. Among these, congenital disorder of glycosylation type Iy caused by SSR4 gene variants closely matched the patient’s clinical phenotype. Based onAggregation Detection TechnologyBased on the provided information, the Departments of Surgery and Neurology jointly determined a new surgical plan.
A 33-year-old female patient, with a three-generation family history of early-onset diabetes, has been diagnosed with diabetes for eight years but the exact cause has remained elusive. During genetic counseling, the geneticist recommended genetic testing. ThroughAggregation Detection TechnologyIt was found that the patient had “mitochondrial diabetes” caused by the m.3243A>G variant in the mitochondrial TL1 gene. Both the patient’s mother and maternal grandmother carried the same variant, thereby clarifying the etiology of early-onset diabetes in the family.
What Is the “Black Technology” Behind the Frequently Mentioned Integrated Testing Platform? How Does It Enable Comprehensive and Accurate Diagnosis of Monogenic Genetic Disorders? Sheng Min, Operations Director at KAIUMPIH, explains: “The integrated testing platform is a novel genetic diagnostic technology for hereditary diseases developed by KAIUMPIH. Guided by the pathogenic mechanisms of diseases, this technology enables one-step detection and analysis of variants in the exonic regions of over 23,000 nuclear genes, mitochondrial genome variants, and genome-wide copy number variations (CNVs)."Aggregated detection technology enhances the sensitivity of gene copy number variation (CNV) testing by nearly 200 times (with a resolution of up to 1kb) through encrypted whole-genome CNV probes. It effectively addresses the limitations of single detection techniques, increases the positive rate to approximately 10%, and reduces costs for patients."
Monogenic genetic disorders involve a wide range of symptoms and multiple medical specialties, making clinical diagnosis complex. According to statistics from the World Health Organization, the cumulative incidence of monogenic genetic disorders among live births worldwide is 1%. As of July 22, 2020, the authoritative Online Mendelian Inheritance in Man (OMIM) database had cataloged 6,699 monogenic genetic disorders/phenotypes. Sheng Min stated that there are currently two major challenges in the field of genetic diagnosis of hereditary diseases in China:First, false negatives resulting from the limitations of detection technologies; second, the lack of curative treatments for most diseases, which limits the clinical utility of diagnostic results.
Patients present with phenotypic features suggestive of a genetic disorder, yet test results are negative. Is the testing panel insufficiently comprehensive? Should it be expanded to include whole-exome sequencing, mitochondrial genome analysis, or high-resolution copy number variation (CNV) detection? Are the additional costs affordable? Faced with these dilemmas, both clinicians and patients struggle to make decisions.
Even among cases diagnosed with monogenic genetic disorders, those achieving outcomes such as “radical cure, clinical cure, favorable prognosis, or complete remission,” or those attaining “significant improvement and normal life,” remain a minority relative to the full spectrum of disease types.
Driven by the original aspiration to address the aforementioned two challenges, the founding team established KAIUMPIH in 2017. By continuously innovating and iterating aggregated testing technologies, the company has facilitated the implementation of “comprehensive diagnostic solutions” for genetic diseases. Furthermore, through collaboration with multidisciplinary clinical practices, KAIUMPIH conducts in-depth analyses of the correlations between diseases and genomic data, jointly developing novel therapeutic technologies and new companion diagnostic solutions for genetic disorders.
Why Was KAIUMPIH Founded in 2017? The founding team’s rationale was as follows: First, at that time, the application of high-throughput sequencing technology in genetic disease testing had already gained market recognition. Second, with the iteration of sequencers and a significant drop in sequencing costs, the necessary conditions were in place for the large-scale promotion of aggregated testing products. Third, genetic disease testing at the time relied primarily on various gene panels; however, these panel-based products were limited by their update speed and detection scope, failing to meet the requirements for “diagnostic” capability. There was a clinical need for “diagnostic-grade” testing products.
Therefore, since 2017, the founding team of KAIUMPIH has been engaged in the research and development and promotion of “Aggregated Testing Technology.”
The core team of KAIUMPIH comprises senior technical experts specializing in clinical medicine, medical genetics, molecular biology, and related fields. With a deep understanding of the differentiated needs associated with specialized diseases, the team has focused its efforts on developing integrated detection technologies. Since officially launching for clinical application in early 2018,Over 5,000 cases have been tested and analyzed., has gained clinical recognition and, in fact, helped a large number of examinees.
Sheng Min’s positioning for KAIUMPIH is“Companies Providing Diagnostic and Companion Diagnostic Services for Diseases with Significant Hereditary Factors Caused by Germline Mutations”She believes that there is a significant distinction between “diagnosis” and “testing.” Diagnostic-grade products are outcome-oriented, providing clinicians with more comprehensive bases for diagnosis, treatment, and prognosis assessment while reducing costs for patients. This also serves as the starting point for KAIUMPIH’s determination to develop aggregated testing technologies and products that are more closely aligned with clinical needs, guided by those very needs.
Since 2020, based on the detection of “whole exome, mitochondrial DNA, and high-resolution copy number variations (CNVs),” integrated testing technology has innovatively implemented probe enrichment for specific pathogenic regions associated with certain diseases, further expanding the scope of detection. The expanded coverage includes genomic “uniparental disomy (UPD) regions,” “disease-related mosaic mutation regions,” “deep intronic regions,” “HLA typing regions,” and “somatic mutation regions,” forming a new“3+X” Model, with the aim of making diagnostic results more comprehensive and accurate.
These exclusively designed by KAIUMPIHRegion-Specific Encrypted Probes, multiple quality inspections are conducted from design to production, ensuring reliable and excellent performance indicators such as capture efficiency and uniformity.
Sheng Min stated that multiplex testing technology offers a novel technical approach for genetic disease detection, with significant clinical application advantages. These include the ability to issue comprehensive diagnostic reports within seven days and the generation of high-quality, multi-dimensional sequencing data, which holds substantial value for disease research. With the support of this technology, KAIUMPIH has participated in projects such as the development of new treatments and companion diagnostics for pediatric vasculitis.
“Matching appropriate treatment or intervention plans (medical decisions) is the maximized embodiment of the diagnostic value of genetic diseases.”Currently, KAIUMPIH is collaborating with clinical partners to conduct a series of prospective research projects on gene data-guided medical decision-making for genetic disorders, such as prediction models for premature ovarian insufficiency, refractory epilepsy, and cardiovascular complications of Kawasaki disease.
Regarding future plans, Sheng Min stated that KAIUMPIH will continue to promote and popularize its “3+X” multiplex testing technology, benefiting a broader population of tested individuals and enabling physicians to perform more precise and targeted diagnoses for specific diseases, thereby contributing to the field of medical genetic diagnostics. In the long term, KAIUMPIH aims to continuously refine clinical standard operating procedures (SOPs) for companion diagnostics and novel therapeutic regimens, based on research into disease pathogenesis, with the ultimate goal of helping to achieve cures for more genetic disorders.