Larissa L. White

Cascade testing in an ovarian cancer traceback genetic testing program: The GRACE study experience

Abstract Approximately 20% of individuals diagnosed with ovarian cancer (OC) have an inherited pathogenic or likely pathogenic variant (P/LP) in a cancer risk gene. Though genetic testing for hereditary cancer risk is currently recommended at OC diagnosis, individuals who have not received risk information and their at‐risk relatives (ARR) can benefit from genetic testing at any point. In a single‐arm implementation study, the Genetic Risk Assessment in Ovarian CancEr (GRACE) study offered traceback genetic testing using a panel of cancer risk genes to (1) living survivors with a prior OC diagnosis who had not received genetic testing at diagnosis and (2) first‐degree relatives of deceased eligible probands with a prior OC diagnosis who had not received genetic testing. For survivors and first‐degree relatives with a positive result (i.e., P/LP detected), we offered cascade testing to ARR, including providing support resources to facilitate communication with their relatives and offering to directly contact relatives. Traceback testing occurred on average 10–12 years from the incident OC diagnosis, resulting in 20 positive findings with 93 ARR eligible for cascade testing. Overall, cascade testing uptake was 38%, with similar rates among relatives of living (40%) and deceased (33%) probands. Cascade testing identified 11 individuals with OC‐risk variants and 3 incidental findings in genes not associated with OC risk. Women were more likely to complete cascade testing than men (45% vs. 30%, respectively). Initially, only two probands consented to direct contact with ARR by the study genetic counselor; 6 additional probands requested direct contact with relatives over subsequent interactions. These findings represent some of the first U.S. data available on cascade testing outcomes of traceback programs and suggest feasibility and effectiveness in U.S. health system settings.

Cervical Cancer Screening: Patient Perspectives on Transitioning to Primary High-Risk Human Papillomavirus Testing Alone

In 2018, the US Preventive Services Task Force updated cervical cancer screening recommendations to allow for screening every 5 years with primary human papillomavirus (HPV) testing in combination with cytology (cotesting) or every 5 years with primary HPV screening alone. Despite these changes, the uptake of primary HPV screening has been lower than expected. The purpose of this study was to evaluate the patient perspective of an integrated health system transition from cotesting to primary HPV testing among a 30- to 65-year-old cohort. Semistructured phone interviews were conducted from July to December 2023 at Kaiser Permanente Colorado with 16 members aged 30-65 years. Interviews asked about reactions to the forthcoming change in cervical cancer screening, personal concern about cervical cancer risk, feedback on patient-facing education materials, and preference on communication timing and modality. Participants reported concerns about cervical cancer screening intervals, primarily the reduction in frequency leading to underdiagnosis of sexually transmitted infections (STIs). Participants recommended defining the rationale for the change to primary HPV testing in the patient education materials. Participants preferred communication about the change in-clinic between practitioner and patient. The interviews identified key themes, including the differentiation between cervical cancer and STI screening methodologies, potential underdiagnosis of STI and cervical cancer, and the rationale supporting primary HPV testing and associated screening intervals. These qualitative findings can inform health systems of potential patient concerns to address when considering the transition from cotesting every 3 years to primary HPV testing every 5 years for cervical cancer screening.