Shanghai SeekGene Biotechnology Files IPO Prospectus: Empowering Physicians with User-Friendly Bioinformatics Tools for Genetic Disease Analysis

As a crucial component of precision medicine, genetic testing has demonstrated significant market potential. According to data forecasts from iiMedia Research in 2019, the scale of China’s genetic testing market is expected to maintain steady growth over the next three years.

Dr. Zhou Zaiwei, Founder and CEO of Shanghai Xunyin Biotechnology Co., Ltd. (hereinafter referred to as “Xunyin Biotech”), stated, “Behind the rapid growth of the genetic testing market, numerous pain points persist.” For instance, most current genetic data analysis relies on open-source software that requires physicians to write their own code. Since most physicians lack programming expertise, they are unable to independently perform bioinformatics analysis after receiving raw data.

In response to the aforementioned pain points, Xunyin Bio has launched two major solutions—Establish data analytics training programs for open-source software and develop visualization tools to empower physicians and related personnel to independently conduct bioinformatics analyses.。

Dr. Zhou Zaiwei is the CEO and a co-founder of Xunyin Biology. He graduated from Shanghai Jiao Tong University School of Medicine with a specialization in genetics. Dr. Zhou has previously held positions at Shanghai Children’s Hospital, Decode DNA, and WuXi AppTec New Drug Development Co., Ltd., accumulating extensive expertise in genetic testing.

Meanwhile, Dr. Zhou is a seasoned professional in the genetic testing industry. He is a founding member of the Genetic Counseling Branch of the Chinese Society of Genetics, a preparatory committee member of the Genetics and Reproduction Professional Committee under the Cross-Strait Medical and Health Exchange Association, a director of the Precision Medicine Branch of the China Health Production Association, and a committee member of the Molecular Genetics Professional Committee under the Shanghai Laboratory Medicine Branch of the Chinese Medical Doctor Association. He has been awarded one National Natural Science Foundation for Young Scholars and has published more than ten academic papers.

Dr. Zhou’s WeChat official account, “Genetic Testing and Interpretation,” has published over 400 original articles focusing on the latest advances in genetic testing and discussions of data analysis workflows and methods. With nearly 30,000 subscribers—primarily professionals in the gene sequencing industry and physicians—the account holds significant influence within the sector.

In 2017, Dr. Zhou observed that the domestic genetic testing industry in China was emerging rapidly and maturing continuously, with consumer-facing (B2C) genetic testing services gaining significant traction. Consequently, Dr. Zhou entered the genetic testing market to provide clinical genetic testing services.

However, it was only when he actually embarked on his entrepreneurial journey that Dr. Zhou realized there were cold currents beneath the heatwave. “There are too many third-party testing companies in the industry, making it difficult for startups to gain a competitive edge.” Dr. Zhou began to consider new avenues.

Having spent many years in the genetic testing industry, Dr. Zhou has accumulated extensive professional networks and resources. Dr. Zhou has learned that hospital departments specializing in genetics have a substantial demand for gene data analysis software.

Previously, hospitals mostly outsourced testing to third-party laboratories. Doctors discovered that"More than half of the tested patients had negative results, which did not match the clinical manifestations of suspected genetic diseases."Therefore, physicians are concerned that analyses conducted by third-party testing laboratories may lack comprehensiveness, prompting a desire to perform in-house analyses within hospitals. Furthermore, government policies encouraging hospitals to conduct genetic testing on-site have, to some extent, driven the demand for gene data analysis software in hospital settings.

Of course, it is extremely difficult for hospital physicians to conduct genetic data analysis.

Unlike other testing items, genetic testing cannot directly yield test results,Physicians need to make a comprehensive judgment by integrating the patient’s phenotype, inheritance pattern, bioinformatics analysis, and their own clinical experience.Currently, most hospitals rely on open-source software for genomic data analysis. The advantages of open-source software include public accessibility and the freedom to modify and distribute it without license restrictions. However, using such software requires writing code in a Linux environment to execute commands and adjust parameters.

“The vast majority of physicians lack coding expertise and are unable to independently perform bioinformatics analysis.” Therefore, Dr. Zhou decided to develop solutions with genomic data analysis as the entry point.

To address the needs of physicians, Xunyin Bio has begun launchingWhole Exome Sequencing Data Analysis Training Course, focusing on open-source software, the training guides physicians on how to perform clinical high-throughput sequencing bioinformatics analysis after obtaining raw data. The content includes training physicians on quality control of sequencing data, the general workflow for data analysis, how to analyze copy number variations based on whole-exome data, and how to integrate phenotypic information to screen for pathogenic variants.

During the training sessions, Dr. Zhou further learned that “many participants hope the company will develop a code-free visual analytics software. Additionally, beyond the software, there is also the issue of high costs associated with hardware (analysis workstations).”

Subsequently, Xunyin Biology began developing visualization software for genetic data analysis and low-cost analysis workstations.

Dr. Zhou stated, “To address the pain point of requiring coding skills for open-source software, there are alternative solutions on the market, such as online analysis platforms. However, due to issues like slow upload speeds and data security concerns, these platforms have not been widely adopted by physicians.”

Given that Dr. Zhou holds a degree in genetics and co-founder Wu Jingxiong also possesses expertise in the field, Xunyin Bio’s software is primarily designed for monogenic genetic disorders. The companyPython was used to replace the Linux command line interface,Physicians no longer need to write code; all parameters and data are visualized, allowing physicians to operate directly through a graphical user interface.

Currently, Xunyin Bio has developed two visualization software programs. One isWhole Exome Sequencing Software, it can analyze the coding regions and intron-exon junctions of all genes currently identified in scientific research, covering more than 20,000 genes, and is capable of detecting point mutations and small insertions and deletions.

Another one isSoftware for Copy Number Variation Analysis Based on Whole-Exome Sequencing DataAccording to the literature, approximately 10% to 15% of monogenic disorders are caused by copy number variations (CNVs). Failure to analyze this type of variant may result in missed diagnoses. This software employs an exon sequencing depth-based approach to detect CNVs, presenting results in a clear and visually intuitive format. It achieves a resolution of two exons across the whole genome and single-exon resolution for target genes. Furthermore, for recessive disorders where only one pathogenic variant is identified, this software can be utilized to search for a second hit in the form of a copy number variation.

To address the high cost of analysis workstations, Xunyin Bio leverages the CPUs and memory of consumer-grade computers to build its analysis workstations. Dr. Zhou stated, “Our research has shown that while dedicated analysis workstations on the market offer substantial computing power, such capacity is redundant for hospitals. The CPUs and memory found in high-end consumer desktops are sufficient to meet hospitals’ needs for gene data analysis.”

Currently, more than 40 medical institutions have adopted Xunyin Biology’s software and hardware products. Furthermore, Xunyin Biology has established research partnerships with multiple hospitals using its product portfolio. For instance, it is collaborating with Shanghai Ruijin Hospital on the identification of novel genes associated with paroxysmal movement disorders, with Fudan University Children’s Hospital on the identification of novel genes for congenital heart disease, and with Shanghai Children’s Hospital on projects concerning novel genes related to syncope.

Subsequently, Xunyin Biology will update and iterate its existing products and develop new software based on customer feedback. Additionally, the company plans to launch various training programs in the future, including courses focused on CNV-seq, targeted cancer therapy, RNA-seq expression analysis, and gut microbiome metagenomics.

Dr. Zhou stated, “The gene data analysis software industry still faces several urgent challenges, such as ambiguous quality control metrics, the inability to determine whether samples have been mixed up or contaminated, and difficulties in detecting intronic mutations and methylation.” Xunyin Bio aims to address these issues through advanced gene data analysis algorithms. For instance, to tackle sample mix-ups, the software can incorporate functionality to analyze kinship relationships between samples; to address sample contamination, the software can analyze the allele frequency of genetic mutations in sequencing data to confirm whether a sample has been contaminated.

Independent genetic testing by hospitals will be a major trend in the future, creating significant potential for developing visualization software tailored to hospital needs. Dr. Zhou is leveraging this insight to seek opportunities in this field.