Approximately 80% of rare diseases are genetic. A variety of genetic testing can be used to check for these diseases with a 40% success rate in helping a patient find a diagnosis. (1) Usually, genetic testing is focused on rare mutations in one or few cells, like those that cause cystic fibrosis, sickle cell disease, or the BBCA gene responsible for some forms of breast cancer. It is less useful in diseases like heart disease or diabetes which are caused by many genes-gone-wrong working together (2).
However, recently, geneticists have found a new way to calculate millions of genetic variations to that add up to cause harm, letting them calculate the risk for heart disease, Type 2 diabetes, inflammatory bowel disease, breast cancer, and atrial fibrillation. The new system doesn’t require sophisticated testing — it simply analyzes raw data that people receive from a cheek swab or something similar. It then takes this data and turns it into a score to assess the risk of acquiring that disease. Currently, this score is only applicable to those with European ancestry (2).
China has found another purpose for genetic testing. According to a document posted by China’s Ministry of Science and Technology, Chinese athletes aiming to represent their country in the 2022 Winter Olympics will undergo genetic testing as a part of the official selection process. The athletic performance tests, generally a series of trials and competitions, will still be a part of the process, but the genetic test will also be reviewed when athletes are chosen. “Complete genome sequencing will be applied on outstanding athletes competing in the winter games for speed, endurance, and explosive force, with at least 300 athletes in each group,” the document said. China’s General Administration of Sport, the Ministry of Education, and the Chinese Academy of Sciences will begin the screening process from now through 2020 (3).