Abstract

BackgroundAlthough genetic testing is recommended for women with epithelial ovarian cancer (EOC), little is known about patient preferences for various testing options. We measured relative preferences for attributes of testing in women with EOC referred for genetic counseling.MethodsSubjects were recruited to participate in a discrete-choice-experiment survey to elicit preferences for attributes of genetic testing: out-of-pocket cost ($0, $100, $250, or $1000), probability of a deleterious mutation (60, 80%, or 88%), probability of a variant of uncertain significance (VUS) result (5, 20%, or 40%), sample requirements (blood or saliva), and turn-around time (1, 2 or 4 weeks). Subjects viewed educational videos followed by a series of choices between pairs of constructed genetic tests with varying attribute levels. Random-parameters logit was used to estimate preference weights for attribute levels. Relative importance weights and money-equivalent values were calculated.ResultsNinety-four patients were enrolled; 68 (76.4%) presented for genetic counseling. Test cost was the most important attribute to subjects (importance weight = 41 out of 100) followed by probability to detect deleterious mutations (36) and probability of a VUS result (20). Sample requirements and turnaround time did not drive test choices. Subjects were willing to pay an additional $155 and $70 for incremental 5% improvements in the probability to detect deleterious mutations and probability of a VUS result. At genetics consultation, 55/68 (80.9%) subjects chose multigene testing.ConclusionsLow out-of-pocket cost, high probability of detecting deleterious mutations and high probability of a VUS result are preferred by patients with EOC considering genetic testing.

Highlights

  • Personalized medicine is transforming contemporary cancer care

  • The majority of hereditary epithelial ovarian cancer (EOC) is associated with mutations in either BRCA1 or BRCA2 (65–85%) [2], genes in the homologous recombination and mismatch repair pathways have been implicated in hereditary ovarian tumorigenesis [1, 3]

  • In March 2014 the Society of Gynecologic Oncology (SGO) issued guidelines stipulating that all women with a diagnosis of EOC should be offered genetic counseling, with consideration given to genetic testing [4]

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Summary

Introduction

Germline genetic testing is an expanding and increasingly visible means to modify personal cancer risk. The evidence base surrounding how patients with cancer value various features of genetic testing is under-developed. One-quarter of epithelial ovarian cancers (EOC) have an identifiable hereditary cause [1]. Hereditary EOCs are associated with elevated risks of other malignancies, including breast, uterine, and colorectal cancers. In March 2014 the Society of Gynecologic Oncology (SGO) issued guidelines stipulating that all women with a diagnosis of EOC should be offered genetic counseling, with consideration given to genetic testing [4]. Genetic testing is recommended for women with epithelial ovarian cancer (EOC), little is known about patient preferences for various testing options. We measured relative preferences for attributes of testing in women with EOC referred for genetic counseling

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