Jada G. Hamilton

Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?

PURPOSE Although germline genetic testing (GT) is recommended for all patients with ovarian cancer (OC) and some patients with endometrial cancer (EC), uptake remains low with multiple barriers. Our center performs GT in parallel with somatic testing via a targeted sequencing assay (MSK-IMPACT) and initiates testing in oncology clinics (mainstreaming). We sought to optimize our GT processes for OC/EC. METHODS We performed a quality improvement study to evaluate our GT processes within gynecologic surgery/medical oncology clinics. All eligible patients with newly diagnosed OC/EC were identified for GT and tracked in a REDCap database. Clinical data and GT rates were collected by the study team, who reviewed data for qualitative themes. RESULTS From February 2023 to April 2023, we identified 116 patients with newly diagnosed OC (n = 57) and EC (n = 59). Patients were mostly White (62%); English was the preferred language for 90%. GT was performed in 52 (91%) patients with OC (seven external, 45 MSK-IMPACT) and in 44 (75%) patients with EC (three external, 41 MSK-IMPACT). GT results were available within 3 months for 100% and 95% of patients with OC and EC, respectively. Reasons for not undergoing GT included being missed by the clinical team where there was no record that GT was recommended, feeling overwhelmed, financial and privacy concerns, and language barriers. In qualitative review, we found that resources were concentrated in the initial visit with little follow-up to encourage GT at subsequent points of care. CONCLUSION A mainstreaming approach that couples somatic and germline GT resulted in high testing rates in OC/EC; however, barriers were identified. Processes that encourage GT at multiple care points and allow self-directed, multilingual digital consenting should be piloted.

Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention

ABSTRACT Background High‐risk mothers undergoing BRCA testing must decide whether, when, and how to disclose hereditary cancer risk information to their adolescent and young adult (AYA) children. Aims This study explored maternal preferences/values and cognitive‐affective factors influencing these decisions during genetic counseling. Methods Mothers ( N  = 282) reported on the perceived risks/benefits of AYA disclosure. Multivariable regression identified predictors of disclosure, and paired t ‐tests evaluated changes over time in maternal‐AYA communication, distress, and decisional conflict following genetic counseling. Results Mothers reported valuing the benefits of disclosure more than risks ( p  < 0.001). Those who valued disclosure tended to have female ( t  = −1.74, p  = 0.08) and older ( r  = 0.14, p  = 0.03) children but were less knowledgeable about cancer risk ( r  = −0.17, p  = 0.005). Conversely, mothers who perceived disclosure to AYAs as riskier tended to be non‐white ( t  = 1.80, p  = 0.072), Hispanic ( t  = 1.66, p  = 0.098), lower‐income ( t  = 2.56, p  = 0.011), and with younger children ( r  = −0.28, p  < 0.001) in poorer mental health ( r  = 0.12, p  = 0.047). These findings were reaffirmed though a multivariable regression model controlling for benefits (adjusted R 2  = 0.11; age B  = −1.09, p  < 0.001; mental health B  = 0.36, p  = 0.04). Post‐counseling, participants showed reduced decisional conflict ( t  = 2.4, p  = 0.009) but increased depression/anxiety ( t  = −1.4, p  = 0.08) and lower parent‐child relationship quality ( t  = 2.7, p  < 0.001). Conclusions Clinicians should be attuned to the factors shaping parental disclosure decisions and consider offering additional support to manage distress. Tailored educational tools for parents may aid family communication and improve psychosocial outcomes alongside genetic counseling.

Germline Pathogenic Variants and Genetic Counseling by Ancestry in Patients With Epithelial Ovarian Cancer

Mutations in ovarian cancer risk genes are found in women of diverse ancestries, supporting genetic testing for ALL