Cancer Patient Experience of Uncertainty While Waiting for Genome Sequencing Results

Abstract

There is limited knowledge about cancer patients' experiences of uncertainty while waiting for genome sequencing results, and whether prolonged uncertainty contributes to psychological factors in this context. To investigate uncertainty in patients with a cancer of likely hereditary origin while waiting for genome sequencing results, we collected questionnaire and interview data at baseline, and at three and 12 months follow up (prior to receiving results). Participants (N = 353) had negative attitudes towards uncertainty (M = 4.03, SD 0.68) at baseline, and low levels of uncertainty at three (M = 8.23, SD 7.37) and 12 months (M = 7.95, SD 7.64). Uncertainty about genome sequencing did not change significantly over time [t(210) = 0.660, p = 0.510]. Greater perceived susceptibility for cancer [r(348) = 0.14, p < 0.01], fear of cancer recurrence [r(348) = 0.19, p < 0.01], perceived importance of genome sequencing [r(350) = 0.24, p < 0.01], intention to change behavior if a gene variant indicating risk is found [r(349) = 0.29, p < 0.01], perceived ability to cope with results [r(349) = 0.36, p < 0.01], and satisfaction with decision to have genome sequencing [r(350) = 0.52, p < 0.01] were significantly correlated with negative attitudes towards uncertainty at baseline. Multiple primary cancer diagnoses [B = −2.364 [−4.238, −0.491], p = 0.014], lower perceived ability to cope with results [B = −0.1.881 [−3.403, −0.359], p = 0.016] at baseline, greater anxiety about genome sequencing (avoidance) [B = 0.347 [0.148, 0.546], p = 0.0012] at 3 months, and greater perceived uncertainty about genome sequencing [B = 0.494 [0.267, 0.721] p = 0.000] at 3 months significantly predicted greater perceived uncertainty about genome sequencing at 12 months. Greater perceived uncertainty about genome sequencing at 3 months significantly predicted greater anxiety (avoidance) about genome sequencing at 12 months [B = 0.291 [0.072, 0.509], p = 0.009]. Semi-structured interviews revealed that while participants were motivated to pursue genome sequencing as a strategy to reduce their illness and risk uncertainty, genome sequencing generated additional practical, scientific and personal uncertainties. Some uncertainties were consistently discussed over the 12 months, while others emerged over time. Similarly, some uncertainty coping strategies were consistent over time, while others emerged while patients waited for their genome sequencing results. This study demonstrates the complexity of uncertainty generated by genome sequencing for cancer patients and provides further support for the inter-relationship between uncertainty and anxiety. Helping patients manage their uncertainty may ameliorate psychological morbidity.

Further validation of the Perceptions of Uncertainties in Genome Sequencing scale among patients with cancer undergoing tumor sequencing

“…1 Patients with cancer are known to be at risk for psychological distress and lower quality of life. 20 Research has demonstrated the independent role of uncertainty on psychological well-being, 11,21 which can compound these psychological risks and pose a threat to patients' employment of effective coping skills, adaptation to a cancer diagnosis, and health-related quality of life. 22,23 Additionally, heightened perceptions of uncertainty among patients with cancer have been shown to be associated with negative impacts on health behavior, 24 and therefore represent a critical consideration in terms of patient-centered care.…”

“…10 Individuals with rare or treatment-resistant cancer live with profound uncertainties, which often leaves them feeling more distressed than individuals with common cancers with more certain prognosis and management. 11,12 Patients with cancer are often interested in learning genomic results related to their tumor, which introduces additional uncertainties inherent in sequencing that exceed those of other types of medical information 1 and must be managed on top of the uncertainties of the cancer trajectory. Motivation may be aimed at reducing uncertainty regarding the etiology of their cancer and the potential for targeted cancer treatment, which in the context of rare or treatment-resistant cancer likely leads to disappointment.…”

“…Cancer is a leading cause of death worldwide and is considered a genetic disease 10 . Individuals with rare or treatment‐resistant cancer live with profound uncertainties, which often leaves them feeling more distressed than individuals with common cancers with more certain prognosis and management 11,12 . Patients with cancer are often interested in learning genomic results related to their tumor, which introduces additional uncertainties inherent in sequencing that exceed those of other types of medical information 1 and must be managed on top of the uncertainties of the cancer trajectory.…”

“…Patients with cancer are often interested in learning genomic results related to their tumor, which introduces additional uncertainties inherent in sequencing that exceed those of other types of medical information 1 and must be managed on top of the uncertainties of the cancer trajectory. Motivation may be aimed at reducing uncertainty regarding the etiology of their cancer and the potential for targeted cancer treatment, which in the context of rare or treatment‐resistant cancer likely leads to disappointment 11 . Nevertheless, even in the absence of personal gain, they may be interested in advancing science by contributing to the discovery of avenues for novel targeted treatment and offering hope for future patients 13,14 …”

“…Motivation may be aimed at reducing uncertainty regarding the etiology of their cancer and the potential for targeted cancer treatment, which in the context of rare or treatment-resistant cancer likely leads to disappointment. 11 Nevertheless, even in the absence of personal gain, they may be interested in advancing science by contributing to the discovery of avenues for novel targeted treatment and offering hope for future patients. 13,14 The primary aim of the current study was to demonstrate validity of the PUGS scale in the context of genomic tumor sequencing for patients with advanced cancers.…”