Ambry Announces New Exome Sequencing Secondary Findings Policy
The American College of Medical Genetics and Genomics released Recommendations on Incidental Findings in Clinical Exome and Genome Sequencing that outlines the group's recommendations: laboratories performing diagnostic exome sequencing (DES) actively search and report alterations in genes from among a provided minimum list of genes.
ACMG secondary findings minimum list offered as default:
In following these recommendations, Ambry will report an “ACMG Minimum List Secondary Findings Report” as a default for all exome orders. The ACMG gene list includes 57 genes associated with roughly 25 genetic conditions determined by ACMG to be well-recognized and known to have a strong link of causation. The conditions were chosen based on availability of preventative measures and treatments options. Among the condition types are cancer predisposition risk, later-onset cardiac syndromes, connective tissue syndromes (Marfan syndrome, Loeys-Dietz syndrome) and one childhood-onset disease (familial hypercholesterolemia).
Patients can decline receipt of secondary findings:
As part of the standard consent form, patients can choose to decline a secondary findings report.
Ambry patient-driven secondary findings options:
Based on client interest, Ambry will retain the original secondary findings options which allow for expanded secondary findings reports. For Clinical Diagnostic Exome (CDE) orders, patients have the option to select these expanded reports from among four binned categories by completing the Ambry Patient-Driven Secondary Findings Consent Form.
Expanded Secondary Findings Gene Lists:
The following requisition forms are required for First-Tier Exome™ and Clinical Diagnostic Exome™: