Abstract

This study enumerated patients’ preference-based personal utility and willingness-to-pay for massively parallel sequencing (MPS) genetic testing of colorectal cancer (CRC) risk. Our setting was the New Exome Technology in (NEXT) Medicine Study, a randomized control trial of usual care genetic testing vs. exome sequencing. Using a discrete choice experiment (DCE), we elicited patient preferences for information on genetic causes of CRC. We estimated personal utility for the following four attributes: proportion of individuals with a genetic cause of CRC who receive a diagnosis, number of tests used, wait time for results, and cost. A total of 122 patients completed our DCE (66% response rate). On average, patients preferred genetic tests identifying more individuals with a diagnosis and involving a shorter wait time. Assuming MPS identifies more individuals with a Mendelian form of CRC risk, involves fewer tests, and results in a shorter wait than traditional diagnostic testing, average willingness-to-pay (WTP) for MPS ranged from US$400 (95% CI: $300, $500) to US$1541 (95% CI: $1224, $1859). These results indicate that patients value information on genetic causes of CRC and replacing traditional diagnostic testing with MPS testing will increase patients’ utility. Future research exploring the costs and benefits of MPS for CRC risk is warranted.

Highlights

  • Colorectal cancer (CRC) is among the most common cancers worldwide and is the fourth leading cause of cancer deaths [1]

  • Out of the 184 participants who were enrolled in the Medicine study, 122 completed the discrete choice experiment (DCE), resulting in a response rate of 66%

  • Many participants had a personal history of disease: 36% were diagnosed with CRC, 85% were diagnosed with polyps, and 5% were diagnosed with ovarian or endometrial cancer

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Summary

Introduction

Colorectal cancer (CRC) is among the most common cancers worldwide and is the fourth leading cause of cancer deaths [1]. An estimated 20 to 30% of CRCs involve a hereditary component, but only ~5% are caused by highly penetrant inherited Mendelian pathogenic variants [2]. Identifying germline causes of inherited CRC offers a number of benefits for patients including confirming diagnoses, refining screening surveillance, and initiating cascade screening for relatives [3, 4]. Individuals who are found to have a pathogenic variant and undergo intensive surveillance through colonoscopy every 1–2 years can reduce their risks of: developing the disease, advanced stage tumors, and death [5]. Genetic testing may lead to inconclusive findings, over-diagnosis, and patient anxiety [4, 6]

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