Gene2info
Standardising and Accelerating Genetic Disease Diagnostic Analysis

Many rare human diseases have a genetic origin caused by mutations and variations in an individual’s DNA. And due to their rate of prevalence, the diagnosis processes conducted by traditional biochemical methods are lengthy and lack standardisation. Genetic diagnosis has emerged as a low-risk alternative with more accurate results for the diagnosis of rare diseases. Founded in 2017, Gene2info was established with the aim to leverage innovations made in the fields of genetics and bioinformatics and accelerate the genetic diagnostic process, especially for rare diseases. The company has achieved this with its specialised diagnostic kits supported by genetic algorithms and artificial intelligence (AI) bioinformatics. “We provide functional solutions for fundamental analysis, clinical evaluation, and complex interpretation of big genetics data, which is generated by next-generation sequencing (NGS),” explains Bahadir Onay, CEO of Gene2info.

The biggest source of Gene2info’s strength is the expertise in software technology and algorithms, which are developed by an experienced team specialising in the bioinformatics field. Consequently, the company can provide a diagnostic method that utilises AI-powered algorithms to process biological data and thus reduce human error. Gene2info’s end-to-end solutions cover the entire process, from taking a biological sample to splitting and sequencing the DNA with NGS methods, to creating a medical genetic diagnosis report with AI-supported bioinformatics analysis. All stages of the process can be tracked online, and a doctor has visibility whether the requested test is in transit or at the laboratory. Currently, Gene2info conducts the genetic diagnosis process for Cerebrotendinous Xanthomatosis (CTX), Adenosine Deaminase Deficiency (ADA), Neuronal Ceroid Lipofuscinoses (CLN2), Hypophosphatemic Rickets (PHEX) diseases.

The development of a diagnostic kit for Sucrase Isomaltase Deficiency (SI) is in the pipeline.

Gene2info’s solution also performs the interpretation of the gene sequence with machine learning techniques and generates a genetic diagnosis report. The process, which starts with NGS ends with a diagnostic report requires one to three days and is only approved after being evaluated by a doctor specialised in medical genetics. All the data being generated is considered sensitive information and are subject to security and encryption methods while being compliant with global standards. “We also undertake the processing and storing of genetic data, expediting and simplifying its transfer between doctors and health institutions, and protecting the data with high-security solutions” adds Cuneyt Oksuz, CTO of Gene2info. Moreover, the genetic diagnostic kits developed by Gene2info are compatible with the systems of leading NGS producers and as such can meet the needs of different markets and corporations.

Typically, the waiting period for gene analysis can extend up to 12 weeks. With Gene2info’s solution, this is reduced to weeks, and costs are also cut in half. For instance, the diagnosis period for Fabry and Gaucher disease has been reduced to two weeks from 2 months. Similarly, Gene2info can complete the diagnosis process for the PHEX gene focused analysis, which is conducted for a metabolic condition called Hypophosphatemic Rickets that is connected to the X chromosome, in one week. And for Neuronal Ceriod Lipofuscinoses CLN2, a neurological disease, the testing of which had not been performed in Turkey, Gene2info developed a gene panel containing 20 genes related to the disease.

At present, Gene2info maintains research and development actions in Turkey with a team of doctors and engineers while marketing actions are based in Boston, USA. The company is establishing one of Turkey’s most extensive genetic laboratories in Izmir with its partners. The aim is to establish a genetic laboratory, which will diagnose multiple diseases and produce the fastest and most accurate solutions. The laboratory will be one of the fastest for genetic diagnosis results not only in Turkey but also in the world. Gene2info is poised to become one of the leading players in the bioinformatics space and committed to the prevention, diagnosis, and treatment of diseases.