Decision-Making Preferences About Secondary Germline Findings That Arise From Tumor Genomic Profiling Among Patients With Advanced Cancers

Abstract

Purpose In patients with advanced cancers, tumor genomic profiling (TGP) can reveal secondary germline findings (SGFs) with regard to inherited disease risks. This study examined the process by which patients with advanced cancers would decide about whether to learn these SGFs and their preferences about specific challenging decision scenarios, including whether patients should be required to receive SGFs and whether SGFs should be returned to the family after a patient’s death. Patients and Methods We conducted qualitative semistructured interviews with 40 patients with advanced breast, bladder, colorectal, or lung cancer who had undergone TGP. Data were collected on participants’ perspectives about the hypothetical decision to learn their SGFs, including their anticipated approach to the decision-making process, and their preferences about challenging decision scenarios. Data were evaluated by thematic content analysis. Results We identified themes with regard to participants’ preferred degree of decisional autonomy, perceived vital role of doctors, information needs, and anticipated process of deliberation. Although participants reported that this decision was ultimately their own, many wanted input from family and trusted others. Oncologists were expected to provide decision guidance and key clarifying information. Most participants stated that patients should be able to make a choice about receiving actionable SGFs, and a majority stated that SGFs should be available to family after a patient’s death. Conclusion These results provide insight into SGF decision-making processes of patients with advanced cancers, which can allow clinicians to provide patients with optimal decision support in this context. Patients with advanced cancers have specific information needs and decision-making preferences that educational and communication interventions should address to ensure that patients make informed choices about learning SGFs.

Psychological outcomes in advanced cancer patients after receiving genomic tumor profiling results.

“…A meta-analysis of BRCA1/2 mutation carriers and noncarriers summarized that women who were mutation carriers experienced higher emotional distress immediately after receiving results, which decreased to pretesting levels with time (Hamilton et al, 2009), highlighting the complex interplay between the impact of cancer and receipt of genetic and genomic tests on one's emotional state. In our earlier work we found that despite the possibility of genomic testing increasing psychosocial concerns particularly when receiving unwanted knowledge, the majority of advanced cancer patients were interested in receiving results, especially if they were actionable (Best et al, 2020), which is supported by other studies (Hamilton et al, 2017). Concurrently, we also found that patients had heightened optimism and hope that the result would be actionable and that a drug would be readily available and successful for their cancer, despite being informed that the likelihood of receiving an actionable result following CGP was low (Best et al, 2019).…”

Frequency of actionable germline pathogenic variants identified through tumor next-generation sequencing in a gynecologic cancer cohort

“…Without such recommendations, one-third of patients with endometrial cancer and all patients with cervical cancer whose tumor sequencing results met ESMO guidelines were not referred for germline testing. Lack of referral for genetic testing is important as research indicates that patients are interested in learning their germline status and desire guidance from oncologists; without provider recommendations, patients are less likely to proceed with genetic counseling and testing 15 16. In this study, only 26.8% of those receiving germline testing underwent testing as a result of tumor sequencing.…”

Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing

“…Research supports that patients desire guidance from their oncologists; without specific recommendations from their providers, patients are less likely to proceed with genetic counseling and testing. 21 Given competing demands of oncologists’ time related to ongoing cancer therapy and symptom management, simplifying the process by which patients become aware of the possibility of germline findings arising from TGP and have access to germline confirmation is critical. To address this knowledge gap, we are developing a TGP fact sheet for patients and providers to provide anticipatory guidance regarding potential germline findings.…”