When a patient has broad genetic testing at Variantyx, such as an exome or genome analysis, we review data from the entire genome. Hundreds or thousands of genes are analyzed for a primary finding – variants that cause or contribute to a person’s symptoms. With data on so many other disease causing genes, patients can optionally learn about other genes to see if a person is at risk for other conditions. These are called secondary findings.
Two Main Types of Genetic Findings
Typically explains some or all of a person’s symptoms.
Typically informs risk; may explain symptoms or family history.
Secondary findings are abnormal genetic changes found in a select set of genes that are known to cause a higher risk for certain conditions. Most of these conditions begin in adulthood, though some can affect children and adolescents. They also may explain some of a family history of a condition. The genes analyzed include many conditions, such as early-onset cancers, heart rhythm and metabolic disorders, and others.
The American College of Medical Genetics and Genomics (ACMG) maintains a list of genes that are analyzed for secondary findings.1 Currently, up to 5-6% of people will test positive for at least one secondary finding, while 94-95% of people will test negative.2 The list of genes are reviewed and updated regularly based on new research. As our understanding of genetics grows, more genes will be added to these lists to provide more information about genetic risks. It is important to be aware that secondary findings will be reported for only likely pathogenic and pathogenic variants.
All of these conditions have some form of screening, intervention, treatment, or supportive care. Knowing risk status can help detect disease early, prevent disease in the future, or can affect disease management.
Secondary findings are optional when ordering: Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis, and Genomic Unity® Exome Analysis. ACMG-specific secondary findings are also optionally available for IriSightTM for Pregnancy Loss and Genomic Unity® Prenatal Analysis.