Germline Testing for Patients With Mutations on Somatic Tumor Testing.

Background: The National Comprehensive Cancer Network (NCCN) recommends germline testing for pathogenic mutations identified by somatic tumor sequencing. The aim of this study was to explore whether patients at Stanford with somatic mutations were recommended germline testing in accordance with NCCN guidelines.

Methods: We retrospectively collected all Stanford patients with mutations found by tumor sequencing. Medical records were reviewed for each patient to identify those recommended germline testing. A multivariable logistic regression model was fit associating baseline characteristics with whether or not a recommendation was made.

Results: Of 164 participants, 51 (31.1%) had no recommendation for germline testing. Of the 97 available germline-testing results, 54 (55.7%) were positive for pathogenic mutations. After adjusting for possible confounders, patients with genitourinary cancer (odds ratio [OR] = 0.03, 95% confidence interval [CI] = 0.00 to 0.03; =.003), lung cancer (OR = 0.04, 95% CI = 0.01 to 0.21; <.001), sarcoma (OR = 0.02, 95% CI = 0.00 to 0.14; <.001), skin cancer (OR = 0.01, 95% CI = 0.98 to 1.03; =.002), or "other" diagnoses (OR = 0.01, 95% CI = 0.00 to 0.16; <.001) were statistically significantly less likely to be recommended germline testing compared with patients with breast or gynecological cancers.

Conclusions: Our study highlights the importance of provider education outside of the oncologic specialties typically associated with -related cancers and continued exploration of referrals to genetics for germline testing on the basis of somatic findings.