WHAT YOU NEED TO KNOW
Genetic diagnostic testing for hereditary diseases saves the lives of many thousands of patients each year and is revolutionizing clinical care. However, no diagnostic test is ever perfect. Scientists have recently estimated that more than half of positives reported to patients are false positives due to inaccurate variant interpretation. This estimate is averaged across many different hereditary diseases and different genetic testing laboratories.
CGI is working with genetics companies to improve variant interpretation. In the meantime, CGI offers patients and consumers critical services to aid decision making once a genetic result has been received from a hospital, clinic or company.