Cancer patient experience of uncertainties related to genome sequencing for inherited cancer susceptibility

Abstract

Reducing cancer-related uncertainty is a motivating factor for accessing genetic testing, such as testing for BRCA1/2 genetic mutations. Genetic test results, however, have the potential to increase uncertainty by predicting disease risks where there are no available interventions, and where results are of uncertain significance, or have an impact on blood relatives. Genome sequencing (GS) has the potential to provide information regarding an individual’s increased risk for not only cancer, but for a broad range of diseases. More and more cancer patients are accessing GS rather than single gene testing, and the complexity of genomics magnifies potential for uncertainties. GS in Australia currently takes ~16 weeks for patients to receive results, exposing patients to prolonged uncertainty while waiting for their results.

This thesis systematically reviewed the literature on patient experience of uncertainty in cancer genomics and identified gaps that are under-explored. To address some of these gaps, the empirical research in this thesis explored the experience of uncertainty of patients with a likely hereditary cancer, while waiting for GS results over a 12-month period. This thesis found that patients access genomics to reduce illness uncertainty for themselves and their relatives. The complexity of genomics did however generate new uncertainties related to genomics for patients. Greater perceived GS-related uncertainties while waiting for results had psychological implications for patients, who expressed greater genomic-related anxiety. However, resilience and coping strategies may ameliorate psychological outcomes with patients reporting a variety of approaches to managing uncertainty, many citing the experience of living with cancer as a strong training ground for dealing with uncertainty.

The findings of this thesis contribute to the scarce literature on this topic, and identify areas for further exploration, as well as implications of for clinical practice.