ACMG Secondary Reporting

Beside the scope of genetic diagnostics – in rare cases – genetic changes may be found by coincidence, which are not related to the requested analysis. If these variants turn out to be pathogenic or likely pathogenic and there are treatment options or preventive care measures available for you or your family (based on the currently valid guidelines of the American College of Medical Genetics and Genomics; ACMG SF v3.1; Miller et al., 2022, PMID: 35802134) these variants can be reported as a secondary finding. Secondary findings do not involve active investigation of the entire ACMG gene list, but rather are variants that are discovered incidentally as part of the diagnostic process. Reporting of secondary findings is only applicable if the patient consented and is free of charge.

An active investigation of the ACMG gene list is also offered, it can be selected as an additional option for most NGS-based germline investigations. In such cases, the “ACMG genes” (see below) are actively screened for pathogenic or likely pathogenic alterations, and an independent report will be issued, even if no pathogenic or likely pathogenic variants were found.