What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

Journal Article (Journal Article)

PURPOSE: Whole-genome sequencing (WGS) can be used as a powerful diagnostic tool as well as for screening, but it may lead to anxiety, unnecessary testing, and overtreatment. Current guidelines suggest reporting clinically actionable secondary findings when diagnostic testing is performed. We examined preferences for receiving WGS results. METHODS: A US nationally representative survey (n = 410 adults) was used to rank preferences for who decides (an expert panel, your doctor, you) which WGS results are reported. We estimated the value of information about variants with varying levels of clinical usefulness by using willingness to pay contingent valuation questions. RESULTS: The results were as follows: 43% preferred to decide themselves what information is included in the WGS report. 38% (95% confidence interval (CI): 33-43%) would not pay for actionable variants, and 3% (95% CI: 1-5%) would pay more than $1,000. 55% (95% CI: 50-60%) would not pay for variants for which medical treatment is currently unclear, and 7% (95% CI: 5-9%) would pay more than $400. CONCLUSION: Most people prefer to decide what WGS results are reported. Despite valuing actionable information more, some respondents perceive that genetic information could negatively impact them. Preference heterogeneity for WGS information should be considered in the development of policies, particularly to integrate patient preferences with personalized medicine and shared decision making.Genet Med 18 12, 1295-1302.

Full Text

Duke Authors

Cited Authors

  • Marshall, DA; Gonzalez, JM; Johnson, FR; MacDonald, KV; Pugh, A; Douglas, MP; Phillips, KA

Published Date

  • December 2016

Published In

Volume / Issue

  • 18 / 12

Start / End Page

  • 1295 - 1302

PubMed ID

  • 27253734

Pubmed Central ID

  • PMC5133139

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/gim.2016.61


  • eng

Conference Location

  • United States