The average delay in diagnosis in rare diseases ranges from about 10 to 20 years. Bahadır Onay, Founder & CEO of Gene2info, which accelerates the diagnosis process of genetic diseases with disease-specific diagnostic kits and artificial intelligence-supported algorithms, informs on rare diseases as part of February 28 Rare Diseases Day.
Stating that about 80 percent of rare diseases are genetic, Bahadır Onay, Founder & CEO of Gene2info said, “There are 8 thousand different rare diseases in the world. The average delay in diagnosis in rare diseases ranges from about 10 to 20 years. As Gene2info, we aim to make genetic diagnostic tests easily applicable and interpretable anywhere in the world.”
Rare diseases, seen in less than 200 thousand people in the USA and 1 in 2 thousand people in Europe, affect 3.5% – 5.9% of the world’s population, an estimated 5 million people in Turkey, 30 million in Europe and It affects 300 million people worldwide. It is stated that there are 7-8 thousand different rare diseases in the world. Treatments of rare diseases are not considered profitable due to high development costs and limited patient population, so a limited number of companies develop drugs for the treatment of these diseases. Currently, only 150 diseases can be treated with drugs. It is critical to increase the success of diagnosis and accelerate the diagnosis process so that patients can reach treatment.
75% affects children
“About 80 percent of rare diseases are genetic in origin. The definitive diagnosis of the disease can be made by genetic testing. The fact that the incidence of diseases reaches one in a million and there are 8 thousand different diseases does not leave many options for diagnosis. Physicians may not recognize the disease even if they see it. However, 75 percent of rare diseases affect children, and delayed diagnosis shortens life expectancy or reduces quality of life. 30 percent of children with rare diseases die before the age of 5. That’s why we see genetic testing as a life saver. The NGS technology we use, unlike other techniques, allows us to be aware of any changes that may exist by reading the entire gene. With very comprehensive genetic tests, we have become able to study the genetics of even diseases that physicians do not consider in the preliminary diagnosis. Therefore, rapid and comprehensive screening facilitates the diagnosis in children and allows them to be treated before the signs of the disease are fully established.”
Diagnosis process is reduced to 1 week in rare diseases
The main problem in the genetic diagnosis of rare diseases is the insufficient number of genetic physicians worldwide. Bahadır Onay said, “The diagnostic process with enzyme tests takes 8 weeks. Currently, we complete the genetic diagnosis process in 1 week with the technologies we have developed, our innovative business model and the developments in NGS technology. As Gene2info, we manage one of the fastest diagnostic processes in the world, including samples from abroad. We increased the rare disease diagnosis rate from 2-3 percent to 20 percent with enzyme tests. The inadequacy of the number of genetic physicians in the genetic testing process around the world is the speed-limiting step in the diagnosis of rare diseases. Therefore, our goal is to make genetic diagnostic tests easily applicable and interpretable all over the world, regardless of the number of genetic physicians and experience, with the solution we offer. Thus, the success of diagnosis of rare diseases will increase all over the world and the diagnosis process will be shortened.”
Rare Diseases page for Physicians
Gene2info contributes to raising awareness about Rare Diseases by physicians with its blog address opened in October 2021. Experts can access summaries of current articles published in international publications on Rare Diseases, particularly Gaucher, Pompe, Fabry, CLN2, CSID, ADA, CTX, Niemann-Pick, Lipodystrophy, SMD, xLSD, MPS, XLH and NMDS. The blog is published in Turkish and English.
Provides an end-to-end solution to all physicians
Gene2info offers an end-to-end solution to all physicians working on rare diseases in genetic diagnosis. Solution covers the whole process including development of a disease-specific genetic diagnostic kit, obtaining the patient’s biological sample from the doctor, separation of DNA from the biological sample with a genetic diagnosis kit in contracted laboratories, sequencing of DNA with Next Generation Sequencing (NGS) methods and generation of medical genetic diagnosis report with artificial intelligence supported bioinformatics analysis.
