In addition to findings related to the patient’s symptoms, exome and genome sequencing sometimes identify genetic variants unrelated to the reason testing was ordered, called secondary findings.  
 
The American College of Medical Genetics and Genomics (ACMG) has created a list of specific “secondary finding” genes known to be associated with health conditions for which medical screening and/or treatments are available. Most of these conditions can increase the chances of developing certain cancers or heart conditions, or change the way a person’s body breaks down, stores, and uses different substances (called metabolic conditions). Certain conditions, such as Alzheimer’s and Huntington’s disease, are not included.

To help patients understand secondary findings, GeneDx has created this patient guide. It includes information on how to opt-in or opt-out of receiving secondary findings.