How accurately do consumers interpret personal DTC genomic risk results?

Introduction: Consumer genomic testing provides genetic risk results for multiple conditions directly to consumers (DTC).  Little is known about the accuracy of consumers’ interpretation of these results, which is an important component in understanding personal health risk. The purpose of this study was to assess participants’ interpretation of their personal genomic risk results.

Methods:  A total of 2037 participants received DTC genomic testing at a subsidized rate and completed baseline and follow-up psychological and behavioral assessments.  As part of the follow-up assessment, participants indicated their most feared disease (of those tested) and their interpretation of the genetic risk result they received for that condition.

Results: The majority of individuals who received a high risk result for their most feared condition described their risk for that condition as being either higher (74%) or equivalent to average (19%).  Similarly, the majority of the low risk group described their risk as being either lower (22%) or equivalent to average (39%).  A greater percentage of those in the high risk group accurately recalled/interpreted their risk as being higher than average (p<.001).

Conclusions: Although most individuals interpret their risk consistent with the genetic risk estimate they received, there was a sizable minority whose interpretation was inconsistent.  Individuals may have been considering other factors in their description of their own risk (e.g., family history) or their recall and/or interpretation may have been inconsistent for other reasons.  Findings provide insight into consumers’ interpretation of their DTC genetic test results.