Guidelines Released by ASCO for Germline Testing in Solid Tumors
NextEdge Admin
21 May 2024
4 min 7 sec
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The American Society of Clinical Oncology recently issued guidelines in the Journal of Clinical Oncology regarding the use of multigene germline genetic testing panels for cancer patients. These guidelines aim to provide clarity on which patients should undergo such testing, when it should be conducted, which genes should be assessed, and how family history of cancer should be collected.
Firstly, the guidelines stress the importance of recording the family history of cancer for all patients, including details about the types of cancer, age at diagnosis, and any previous genetic testing results of relatives. This information, even if incomplete, is deemed valuable.
The decision on when and how to order multigene germline testing depends on the cancer type. Recommendations were gathered from various professional organizations for different tumor types. The consensus is that if patients could potentially have variants in more than one gene that are clinically significant, a multigene panel should be offered.
The panel strongly recommends testing for certain genes based on personal and family cancer history. For instance, breast cancer patients should be tested for variants in BRCA1, BRCA2, PALB2, CDH1, PTEN, STK11, and TP53. Similar recommendations were made for other tumor types, including colorectal, ovarian, prostate, and melanoma, among others.
While broader panel tests are available, caution is advised due to potential inconclusive results or misinterpretation. Physicians should weigh the clinical significance of larger panels and clearly communicate potential benefits and drawbacks to patients.
Less strongly recommended genes may also be tested, although they are associated with a lower relative risk or less actionable variants. Providers have the discretion to test both strongly and less strongly recommended genes based on individual patient circumstances.
Patients should be informed promptly if variants of uncertain significance are reclassified. It’s recommended that patients meeting criteria for germline testing should receive it regardless of prior somatic tumor genetic testing results. In some cases, somatic testing may suggest an inherited genetic risk even without a significant family history.
Discussion of germline testing with patients is crucial for adoption, particularly as more treatments targeting germline mutations are approved. Factors such as cost, insurance coverage, race, ethnicity, geography, and socioeconomic status may influence access to testing. Providers may need to adjust the type of testing ordered based on these factors.
While tumor genomic profiling is standard in certain cancers, the clinical significance of germline genetic testing is increasingly recognized. Treatments targeting germline mutations, such as PARP inhibitors and immunotherapy, underscore the importance of identifying these mutations.
