The Genotype and Phenotype Database of Monogenic Cardiovascular Disease, or CardioGen, has been established by China’s BGI Genomics, together with the National Center for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases.
CardioGen collects and integrates information about gene-causing diseases and clinical phenotype information of patients found in public records around the world, including China. It is a database of genotype-phenotype associations for monogenic cardiovascular diseases based on the variant interpretation rules set by the American College of Medical Genetics and Genomics (ACMG).
The total number of patients worldwide with monogenic cardiovascular disease is estimated to exceed 10 million. Cardiovascular disease tends to be highly heritable, and there is great interest in genetic underpinnings of these conditions.
As McNally (Science Translational Medicine, 2014) writes, “Cardiovascular-associated genes tend to be tissue-specific—mainly expressed in the heart—which restricts the number of implicated genes. The abundance of structural and functional data about the detailed workings of cardiac proteins helps predict how genetic variants will alter function.”
In 2019, the Chinese Journal of Cardiovascular Diseases officially released the “Guideline for the genetic diagnosis of monogenic cardiovascular diseases,” proposing the nation’s first-ever standardized genetic diagnosis and treatment for this genetic condition. As this database continues to improve, it is expected to enable clinicians to make more accurate clinical interpretations after receiving genetic test results.
BGI reports that this trial version of CardioGen will initially be used for cardiomyopathies (hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy). It the future, the site will release additional monogenic cardiovascular disease interpretation databases to better serve clinical needs.
The CardioGen pre-database has the following characteristics:
- A search function for genes and gene locus, providing a visual display of such information with the addition of phenotype.
- Clinical phenotypes of patients with monogenic cardiovascular diseases carrying pathogenic variants and provides more clinical reference information for genetic diagnosis.
- Besides the genetic information and clinical phenotypes of monogenic cardiovascular diseases reported in English literature, CardioGen also offers publicly available information and research data found in Chinese literature. This enhances the reliability of genetic testing data for patients worldwide.
- Based on the standardized variant interpretation guidelines jointly published by the American College of Medical Genetics & Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015, the team of experts customized site-specific interpretation rules for monogenic cardiovascular diseases, used information collected in the database of genetic variants and aggregated clinical information. CardioGen automated the interpretation process, presenting accurate results, suitable for clinical use.
- In addition, as genotype-phenotype association information gets constantly updated, the system will automatically update the loci interpretation results to further enhance accuracy.
