PPM - Germline Variant Reporting in Patients Undergoing Tumor Testing-Description and Reference

Description and Reference

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This document is an overview of the ACMG (American College of Medical Genetics and Genomics) statement on reporting germline variants detected during tumor testing. It is intended for Clinical Laboratory Geneticists who specialize in sequence-based testing of tumor samples. The module provides information on how to infer the germline status of variants identified through somatic testing and how to include this information in the test report. <br /><br />The module defines the objectives for participants, which include implementing the recommendations in the ACMG statement for reporting germline variants in patients undergoing tumor testing. <br /><br />The introduction explains that somatic testing is performed to identify tumor-specific variants that have implications for diagnosis, prognosis, or treatment. However, this testing may also identify germline variants associated with inherited cancer predisposition or other conditions. Different strategies are used for tumor testing, such as tumor-only sequencing, tumor-normal paired sequencing with germline variant subtraction, and tumor-normal paired sequencing with analysis of specific genes associated with germline cancer predisposition. Identifying germline variants is important as it can inform future cancer risks, surveillance procedures, and preventative options for patients and their families. In some cases, knowledge of germline variants may lead to treatment modifications.<br /><br />The document cites the ACMG statement titled "Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)" as the resource to guide the reporting of germline variants.<br /><br />A relevant literature reference is provided, which is a publication by Li et al. titled "Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)."

Keywords

ACMG

germline variants

tumor testing

Clinical Laboratory Geneticists

sequence-based testing

somatic testing

germline status

test report

inherited cancer predisposition

tumor-specific variants