PPM - Laboratory Reporting of Secondary Findings in Clinical Exome and Genome Sequencing-Checklist

Checklist

Pdf Summary

This checklist outlines key steps for laboratories reporting secondary findings (SF) in clinical exome and genome sequencing, to ensure thorough and accurate patient evaluation and reporting. Prior to testing, a thorough review of the patient’s personal and family medical histories is essential, alongside verification of the testing indications. Testing is typically conducted for the proband and may include one or more comparators. Both the patient and any comparators must opt in to receive secondary findings.<br /><br />Reporting must adhere to the most current version of the SF gene list relevant at the time the case is finalized. Laboratories should utilize the ClinGen resource (https://search.clinicalgenome.org/kb/genes/acmgsf) to guide decisions on the reportability of specific variants. When a primary finding is reported, the lab must confirm the inheritance pattern of any pathogenic or likely pathogenic (P/LP) variants before classifying them as reportable secondary findings.<br /><br />Finally, reports should explicitly state whether secondary findings are included and provide recommendations for genetic counseling to support patient care. This checklist is designed as a practical tool to standardize the review process, uphold best practices, and facilitate clear communication between the laboratory and clinical teams during the exome or genome sequencing workflow.

Keywords

secondary findings

clinical exome sequencing

genome sequencing

patient evaluation

family medical history

testing indications

ClinGen resource

pathogenic variants

genetic counseling

laboratory reporting