Variantyx updates secondary findings reporting policy to ACMG v3.2

• By Variantyx
• Posted in Secondary & Incidental Findings

Just 13 days ago, June 22nd to be exact, the American College of Medical Genetics and Genomics (ACMG) published the annual update to their list of recommended genes for reporting secondary findings identified by clinical exome and genome sequencing¹.

The list is important because it represents a minimum set of genes that can confer an increased risk for selected genetic disorders. Disorders that can be prevented, lessoned or managed by well-characterized, safe interventions once they’re identified.

This year three genes were added to the list: CALM1, CALM2 and CALM3. All are associated with types of Long QT syndrome – a cardiac disorder that causes fast, irregular heartbeats that can lead to fainting, seizures or sudden death, but that often goes undiagnosed.

Today, we released a corresponding update to the secondary findings option for our comprehensive tests including:
Genomic Unity® Whole Genome Analysis
Genomic Unity® Lightning Genome Analysis
Genomic Unity® Exome Plus Analysis
Genomic Unity® Exome Analysis
IriSight™ Prenatal Analysis
IriSight™ for Pregnancy Loss

This would be noteworthy simply for the additional opportunity to provide meaningful, actionable health information to our patients. But we make note of it for another important reason: not all exome and genome tests are created equal.

Because all of our tests are performed on a whole genome sequencing platform, we already have access to comprehensive, uniform sequence coverage of entire genes. This makes updating our validation tests and standard operating procedures straightforward. So much so that we can incorporate newly recommended genes like CALM1, CALM2 and CALM3 into our testing in just 13 days.

For more information about ACMG secondary findings, read our full policy or browse the full list of genes.

See full list here

1. Miller DT, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023.