GOOD NEWS AND BAD NEWS: THE PERCEIVED VALUE OF WHOLE GENOME SEQUENCING INFORMATION

Purpose: Whole genome sequencing (WGS) can help inform treatment decisions or predict disease risks.  American College of Medical Genetics and Genomics guidelines recommend that WGS reports given to individuals include only mutations that currently are clinically actionable. However, patients could perceive that such information has non-clinical value or future clinical value as new treatment options emerge. The aim of this study was to quantify such values to help inform reporting recommendations.

Method: This study estimated the value of WGS information using double-bounded contingent-valuation methods. An online survey (n=406 adults from US general population) was used to evaluate willingness to pay (WTP) for a basic WGS report consistent with current guidelines versus a report containing non-actionable findings.  Respondents first indicated whether they would purchase an augmented report for a randomly assigned dollar amount. A follow-up question increased or decreased the starting value conditional on the initial response. The resulting no/no, no/yes, yes/no, and yes/yes responses define double-bounded segments for interval-regression analysis.   

Result: Interest in non-actionable, fatal diseases: 34% (n=139) would want to know this information, 38% (n=154) would not want to know, and 28% (n=117) were not sure.  55% of respondents (n=224) were not willing to pay anything for such non-actionable genetic information. The Table summarizes mean incremental WTP by respondent characteristics.

 

Mean WTP ($US) for information on non-actionable mutations (95% CI)
Would want to know if they had gene variants that lead to a fatal disease	$226 (157, 295)***
Underwent prior genetic testing	$198 (74, 321) ***
Would want to know if they had gene variants that lead to memory loss	$155 (90, 220) ***
Prefers to decide themselves which results to include in report	$94 (20, 168) **
No health insurance	$86 (-38, 211)
Education (bachelor’s degree or higher)	$20 (-43, 84)
Race/ethnicity (white, non-Hispanic)	-$65 (-125, -6) **
**p<0.05; ***p<0.001

Conclusion: A majority of respondents were unwilling to pay for non-actionable genetic information.  Among the largest mean WTP values were those for mutations linked to a fatal condition or memory loss.  Heterogeneity in perceived values of non-actionable genetic information suggests that considerations should be given to both actionable and non-actionable genetic information depending on patient preferences.  Our findings suggest that quantifying patient preferences could provide useful information to inform WGS recommendations and policies.