In modern medicine, early disease screening and early diagnosis have become an important medical issue. Among them, early cancer screening has become one of the core methods of cancer prevention and treatment.
But in fact, the application scenarios of early screening technology based on gene sequencing are not limited to the field of tumors, and are useful in other diseases that are related to genetics. As the former COO of BGI, Dr. Xu Yang naturally has insight into this point. BGI Gene is the leader in the field of gene sequencing in China. The application field focuses more on the fertility, tumor and infection track. Dr. Xu Yang has a master degree in his early years. During the continuous study period, he has been focusing on the cardiovascular field and completed his doctorate in Fuwai Cardiovascular Hospital of Peking Union Medical College.
The clinical scientific research experience in the field of cardiovascular diseases, combined with the industry experience of BGI’s high-throughput gene sequencing technology in assisting precision medicine, gave Dr. Yang Xu the idea to try to use gene sequencing technology to enable early screening and diagnosis of cardiovascular diseases. “High-throughput sequencing technology is a very good tool. If it is used to explore the genetic pathogenesis behind cardiovascular diseases and accumulate a more comprehensive database of pathogenic variants, it will enable early screening and diagnosis of cardiovascular diseases, which will benefit the country. Limin.” Dr. Yang Xu said, “Due to the sudden nature of the end-of-clinical events of cardiovascular disease, that is, the sudden death that is often seen in the news media, the prevention and control of sudden death requires us not only to arrange more The AED and training of cardiopulmonary resuscitation in China need to understand the pathogenic risk of the population, so as to achieve precise prevention and control and early management for high-risk populations.”
In 2015, Dr. Yang Xu founded Shenzhen Reohealth with this idea. This is a biotechnology company focusing on application development of cardiovascular and cerebrovascular genetic disease diagnosis, precise medication, risk assessment, intervention management, etc., aiming to realize the development of cardiovascular and cerebrovascular diseases. Effective management and control from front to back can reduce the incidence and long-term population prevalence, and control the premature mortality of major cardiovascular and cerebrovascular diseases. The company uses the multi-dimensional data early warning evaluation model to prevent and control diseases, which can greatly reduce the medical expenses and resource input of cardiovascular and cerebrovascular diseases.
Heavy medical burden: Gene sequencing empowers the prevention and treatment of hereditary cardiovascular diseases
According to the China Cardiovascular Disease Health and Disease Report in 2019 by the National Center for Cardiovascular Diseases, the number of patients with cardiovascular and cerebrovascular diseases in China is as high as 330 million, and this data will continue to increase as the population ages. As a result, the burden of cardiovascular and cerebrovascular diseases in my country has continued to increase. Cardiovascular and cerebrovascular diseases have also become the number one killer of residents’ deaths. There are two out of every five deaths, and the number of sudden cardiac deaths is about 540,000.
Also in 2019, the Cardiovascular Branch of the Chinese Medical Association issued the “Guidelines for Genetic Diagnosis of Single Gene Inherited Cardiovascular Diseases”, ushering in the era of precision medicine for cardiovascular diseases. Precision medicine has three main development directions in the field of cardiovascular and cerebrovascular: understanding the pathogenesis, exploring the risk background of patients, and developing new drugs. In developed countries in Europe and the United States, some medical centers have long adopted genetic testing as part of routine testing and management of short-term cardiovascular cases. However, due to the lack of a variant interpretation database suitable for the Chinese population and the lack of efficient and low-cost genetic testing and screening methods, China This makes genetic testing limited in the clinical application of cardiovascular diseases.
According to the guideline data, genetic cardiovascular diseases caused by genetic defects total about 40 million people genetically affected. There are more than 300 kinds of hereditary cardiovascular diseases, including cardiomyopathy, ion channel disease, aortic disease, hereditary hypertension, familial hyperlipidemia, etc. Genetic testing can accurately find the cause and treatment of these diseases Targets, to achieve accurate disease early warning, accurate diagnosis and precise intervention, and comprehensively improve the prevention and control capabilities of cardiovascular diseases.
Huge medical prospects: Reohealth deploys precision medicine for cardiovascular diseases
Precision medicine for cardiovascular diseases can start with early genetic diagnosis of single-gene inherited cardiovascular diseases. Dr. Yang Xu said that genetic testing for hereditary cardiovascular diseases can be applied in the following three directions:
1. Detection of markers related to blood supply: insufficient blood supply caused by atherosclerosis is the main cause of ischemic cardiovascular disease;
2. Detection of markers related to cardiac ion channels: changes in heart rate are closely related to cardiac electrophysiological signals, and changes in “circuit” ion channels are related to cardiac arrhythmia;
3. Detection of markers related to the myocardial structure of the heart itself: genetic pathogenic genes may cause physical structural changes such as myocardial hypertrophy during the development of the heart, and finally lead to cardiovascular disease.
After the patient has completed genetic testing, he can further disease risk stratification, assisted genetic diagnosis, precise health management, and even personalized and precise guidance on medication to achieve the entire process of cardiovascular disease prevention and treatment. This is exactly the layout logic of Reohealth in precision medicine for cardiovascular diseases.
For subjects who are at high risk of developing cardiovascular disease when the pathogenic mutation is detected, Reohealth can provide health management reports on the correct diet and control of the three higher dimensions; and for patients with confirmed cardiovascular disease with clinical symptoms, they The results of genetic testing can help provide patients with rapid solutions for individualized medication around specific dimensions such as drug efficacy, drug dosage, drug damage, and drug resistance.
It is worth mentioning that, focusing on specific medication guidance, Reohealth has specially developed a fast and accurate medication genetic testing platform “Fast-GDP”. This platform supports non-invasive oral swab sampling from patients. After the sampling results are transmitted to the Fast-GDP platform, The experimental data analysis can be completed within 50 minutes, and a genetic test report can be generated in 1 second.
In addition to Fast-GDP, Reohealth has also built a REO-CVD platform for sudden death risk screening and genetic disease-assisted diagnosis. This platform can detect 8 high-risk sudden death genetic diseases, guide the use of 22 commonly used cardiovascular drugs, and the detection accuracy rate can reach 99%, the cost is also greatly optimized.
It is reported that Reohealth’s automated interpretation and report interpretation system (REO-HIT) is based on its own development, and is currently being upgraded in strategic cooperation with Ronglian Technology. It can be based on NGS sequencing technology for the entire process of clinical application and an automated overall solution. Realize the standardization of analysis reports, the interconnection of patient information, the unified control and integration of multi-center data, and the blockchain concept of data sharing to help clinicians, hospitals, and third-party clinics to build an efficient NGS clinical auxiliary decision support system.
At present, Reohealth cooperates with more than 20 major domestic cardiovascular hospitals, including Guangdong Provincial People’s Hospital, Sichuan Provincial People’s Hospital, Fuwai Hospital, Shenzhen Hospital, Jiangxi Provincial People’s Hospital, etc., to establish a database of more than 20,000 Chinese inhouse positive cases. The database positive correction rate was 13%, the discovery rate of new pathogenic mutations was 8.6%, 651 known or suspected pathogenic variants were verified, and there were 1351 pending pathogenic variant candidates, and the total meaningful mutation rate reached 67%. The company is also continuously accumulating data and iterating the database.
Reohealth has launched a new round of pre-A round of financing, and the funds raised are mainly used to build a cardio-cerebrovascular gene mutation database, upgrade the REO-HIT online analysis and interpretation system, and deploy multiple clinical medical data centers.