The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and time to diagnose patients with rare disorders. However, with this broad detection range comes the challenge of identifying which of hundreds or thousands of rare variants may be clinically meaningful …
It has been almost 3 years since my father was offered genetic testing after developing three different types of cancers. He also had an alarming family history – multiple relatives with cancer, going back generations. After he received a positive result for Lynch Syndrome, putting him at an increased risk for colon cancer and other types of …