Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline
- PMID: 38759122
- DOI: 10.1200/JCO.24.00662
Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline
Abstract
Purpose: To guide use of multigene panels for germline genetic testing for patients with cancer.
Methods: An ASCO Expert Panel convened to develop recommendations on the basis of a systematic review of guidelines, consensus statements, and studies of germline and somatic genetic testing.
Results: Fifty-two guidelines and consensus statements met eligibility criteria for the primary search; 14 studies were identified for Clinical Question 4.
Recommendations: Patients should have a family history taken and recorded that includes details of cancers in first- and second-degree relatives and the patient's ethnicity. When more than one gene is relevant based on personal and/or family history, multigene panel testing should be offered. When considering what genes to include in the panel, the minimal panel should include the more strongly recommended genes from Table 1 and may include those less strongly recommended. A broader panel may be ordered when the potential benefits are clearly identified, and the potential harms from uncertain results should be mitigated. Patients who meet criteria for germline genetic testing should be offered germline testing regardless of results from tumor testing. Patients who would not normally be offered germline genetic testing based on personal and/or family history criteria but who have a pathogenic or likely pathogenic variant identified by tumor testing in a gene listed in Table 2 under the outlined circumstances should be offered germline testing.Additional information is available at www.asco.org/molecular-testing-and-biomarkers-guidelines.
Similar articles
-
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.J Clin Oncol. 2024 Feb 10;42(5):584-604. doi: 10.1200/JCO.23.02225. Epub 2024 Jan 4. J Clin Oncol. 2024. PMID: 38175972
-
Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline.J Clin Oncol. 2025 Feb 20;43(6):748-758. doi: 10.1200/JCO-24-02608. Epub 2025 Jan 9. J Clin Oncol. 2025. PMID: 39787437
-
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.Sci Rep. 2022 Feb 21;12(1):2507. doi: 10.1038/s41598-022-06376-4. Sci Rep. 2022. PMID: 35190596 Free PMC article.
-
Clinical integration of germline findings from a tumor testing precision medicine program.BMC Cancer. 2025 Jan 30;25(1):176. doi: 10.1186/s12885-025-13487-4. BMC Cancer. 2025. PMID: 39885482 Free PMC article.
-
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.Gastroenterology. 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14. Gastroenterology. 2015. PMID: 25980754 Free PMC article.
Cited by
-
Germline reflex BRCA1/2 testing following tumor-only comprehensive genomic profiling: why, when, and how.JNCI Cancer Spectr. 2024 Sep 2;8(5):pkae096. doi: 10.1093/jncics/pkae096. JNCI Cancer Spectr. 2024. PMID: 39363506 Free PMC article.
-
Should we be testing for germline and "actionable" mutations in all glioma patients?Neurooncol Pract. 2025 Jan 15;12(1):3-4. doi: 10.1093/nop/npae121. eCollection 2025 Feb. Neurooncol Pract. 2025. PMID: 39917757 No abstract available.
-
Advances in molecular pathology and therapy of non-small cell lung cancer.Signal Transduct Target Ther. 2025 Jun 15;10(1):186. doi: 10.1038/s41392-025-02243-6. Signal Transduct Target Ther. 2025. PMID: 40517166 Free PMC article. Review.
-
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing.Genome Med. 2025 Jul 1;17(1):73. doi: 10.1186/s13073-025-01499-5. Genome Med. 2025. PMID: 40597395 Free PMC article.
-
Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.Oncol Rev. 2025 Jul 25;19:1605606. doi: 10.3389/or.2025.1605606. eCollection 2025. Oncol Rev. 2025. PMID: 40787088 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous