Transgender individuals are often their own health advocates, especially if seeking hormone therapies and gender‐affirmation surgeries. While literature exists in the genetic counseling field that explores the relationship between genetic counselors and lesbian, gay, and bisexual patients, there is less research that directly addresses transgender patients. This study assessed cancer genetic counselors’ education, knowledge, and comfort with transgender health issues, such as hormone therapies and gender affirmation surgeries. A survey evaluated comfort with relevant vocabulary terms and performance on written case vignettes to approximate how cancer genetic counselors would facilitate conversations with transgender patients about cancer risks. Conclusions drawn in this study are representative of this subpopulation, which is skewed toward a younger population. Mean similarity between responses and predetermined correct answers on the case vignettes was 78.5%. A majority of participants endorsed wanting more education on implications of transgender identity on cancer risk assessment, a need underscored by some participants reporting their discomfort asking about gender pronouns. There was an overall lack of consensus on breast cancer screening based on estrogen therapy, pedigree symbol use, and testing of a minor prior to hormone therapy. This study adds to the growing literature that highlights the educational needs specific to genetic counseling to promote individualized care for transgender patients.

As genetic testing on somatic tumor tissue becomes a more routine part of personalized cancer treatment, a growing opportunity arises to identify hereditary germline variants within those results. These germline results can affect future cancer screening for both patients and their family members. Finding this germline information can be complicated as a result of differences between somatic and germline testing processes, nomenclature, and outcome goals (e.g., treatment impact). The goal of this review is to highlight differences between somatic and germline testing and outline a potential guide to allow for appropriate clinical interpretation of somatic testing results in order to better facilitate genetic counseling referrals and confirmatory germline testing.

Purpose: Tumor-only genomic testing can uncover somatic and germline pathogenic variants (P/LPs) in cancer predisposition genes. We describe the prevalence of P/LPs in BRCA1/2 and PALB2 (B1B2P2) across malignancies and the frequency of clinical germline testing (CGT) in patients with P/LPs in B1B2P2 identified on tumor-only testing. Experimental design: Among 7,575 patients tested between 2016-2018 with the OncoPanel tumor-only sequencing assay, we characterized P/LP frequencies by tumor type, receipt of CGT prior to or within 12 months (m) after OncoPanel, and factors associated with CGT. Results: 272 (3.6%) had OncoPanel-detected P/LPs in B1B2P2: 37.5% of P/LPs were in BRCA-related cancers; the remainder were in non-BRCA tumors. P/LPs were detected in {greater than or equal to}5% of breast, pancreatic, prostate, ovarian, non-melanoma skin, endometrial, small-cell lung and colorectal cancers. 37.9% of patients with P/LPs received GCT prior to OncoPanel; an additional 10.7% underwent CGT within 12m of OncoPanel. Among 132 with CGT, 88.6% had {greater than or equal to}1 clinical factor for CGT compared to 47.1% who did not undergo CGT. Patients with BRCA-tumors were more likely to have CGT compared to those without (81.4% vs. 29.0%, p<0.0001). Among patients with CGT, 70.5% (93/132) of P/LPs were germline. Conclusion: Tumor-only genomic testing identified P/LPs in B1B2P2 in 3.6% of patients. 52.9% of patients with tumor-detected P/LPs and without CGT did not meet personal or family history criteria for CGT. Additionally, some patients with tumor-detected P/LPs were not referred for CGT, especially those with non-BRCA tumors. Given implications for treatment selection and familial cancer risk, processes to reliably trigger CGT from tumor-genomic findings are needed.