ACMG Secondary and Other Actionable (Incidental) Findings
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 or other actionable (incidental) findings.
Three Main Types of Genetic Findings
Typically explains some or all of a person’s symptoms.
Typically informs risk; may explain symptoms or family history.
Typically informs risk; may explain symptoms or family history.
Secondary findings
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® 2.0, Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis, Genomic Unity® Exome Analysis, Genomic Unity® Lightning Genome Analysis – Neonatal, Genomic Unity® Lightning Genome Analysis – Pediatric, Genomic Unity® Lightning Genome Analysis – Standard. ACMG-specific secondary findings are also optionally available for IriSight® Comprehensive Analysis – Prenatal.
Find out more about genes on the secondary finding lists and our reporting practices
Genes on our secondary findings list
Gene listOther actionable (incidental) findings
Other actionable (incidental) findings are likely pathogenic/pathogenic variants detected unexpectedly during routine processing of patient samples. These variants are in genes unrelated to the patient’s reported phenotype, but with some degree of clinical actionability. These genes are not restricted to a specific list (such as the ACMG Secondary findings list), but are similar in that they could impact medical management and decision making. Variants of uncertain significance are not reported in these genes.
Some examples of these findings are pathogenic/likely pathogenic variants in arrhythmia related genes requiring cardiac monitoring, high penetrance oncogenic related genes, polycystic kidney related genes with increased surveillance recommendations, genes associated with conditions for which possible treatment is available. The option for receiving other actionable findings (opt in) should be discussed with the patient and family prior to testing.
Other actionable findings are optional when ordering: Genomic Unity® 2.0, Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis, Genomic Unity® Exome Analysis, Genomic Unity® Lightning Genome Analysis – Neonatal, Genomic Unity® Lightning Genome Analysis – Pediatric, and Genomic Unity® Lightning Genome Analysis – Standard.