2026 Theses Master's

Patient Experiences with Oncologist-Mediated Genetic Testing: A Qualitative Study of Understanding, Engagement, and Family Communication

Bell, Zoe; Michel, Alissa M.; Levinson, Elana J.; Florido, Michelle E.

Introduction: Oncologist-mediated genetic testing (OMT) has expanded access to germline testing within oncology care. However, longitudinal patient experiences related to comprehension and utilization of results remain insufficiently characterized, particularly across diverse cancer types and result categories. Existing research on the implementation and functionality of OMT has largely been quantitative and confined to breast and ovarian cancer populations, leaving critical gaps in patient perspectives on key aspects of the testing pathway, including pre-test counseling, result interpretation, cascade testing, and the adequacy of post-test support.

Purpose: This study employed a qualitative approach to explore patient experiences with OMT across patients with breast, ovarian, pancreatic, and prostate cancer, and among individuals with negative, positive, and uncertain results. The aim was to elucidate patient understanding of pre-test counseling and post-test follow-up, result interpretation, and communication with relatives, with the goal of informing and improving the implementation of mainstream genetic testing models.

Methods: English-speaking adults aged 18 years or older with a personal diagnosis of breast, ovarian, pancreatic, or prostate cancer and a history of germline genetic testing within the past five years were recruited from Columbia University Irving Medical Center. Semi-structured interviews were conducted using a guide developed by oncologists and genetic counseling graduate students and informed by existing literature on OMT and cascade testing. Interviews were transcribed, coded in Dedoose, and analyzed using reflexive thematic analysis.

Results: Fourteen interviews were completed and analyzed. Three themes were identified: (1) OMT is focused on treatment decision-making, (2) patient understanding and contextual factors shape cascade testing engagement, and (3) needs after OMT evolve as patients move beyond the acute cancer phase. Participants viewed OMT as appropriate during initial cancer care treatment and recalled actionable takeaways more readily than detailed counseling content. Many described cognitive overload during diagnosis and treatment, which limited retention of nuanced information. All participants shared results with at least one family member, but cascade testing among relatives with pathogenic variants varied widely. Participants with VUS results typically understood that the result did not change management, but none recalled the possibility of future variant reclassification.

Conclusions: OMT appears to function well within acute cancer care, when timely treatment-related decision-making is critical. However, patient informational needs evolve over time, suggesting opportunities for structured follow-up after active treatment, clearer counseling around uncertain results, and practical supports for family communication and cascade testing. These strategies may help preserve the accessibility of OMT while strengthening patient understanding, long-term engagement with genetic information, and cascade testing uptake.

Keywords: Hereditary cancer, oncologist-mediated testing, cascade testing, genetic testing