Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment

Eur J Hum Genet. 2018 Sep;26(9):1257-1265. doi: 10.1038/s41431-018-0161-z. Epub 2018 May 25.


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.

Publication types

  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural

MeSH terms

  • Choice Behavior
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms / psychology*
  • Female
  • Genetic Testing*
  • Humans
  • Male
  • Middle Aged
  • Patient Preference*
  • Whole Exome Sequencing*