The general public's understanding and perception of direct-to-consumer genetic test results

Public Health Genomics. 2012;15(1):11-21. doi: 10.1159/000327159. Epub 2011 Jun 30.


Background/aims: Direct-to-consumer (DTC) genetic testing allows consumers to discover their risk for common complex disorders. The extent to which consumers understand typical results provided by DTC genetic testing is currently unknown. Misunderstanding of the results could lead to negative consequences including unnecessary concern, false reassurance or unwarranted changes in screening behaviors. We conducted a study to investigate consumers' perceptions and understanding of DTC test results.

Methods: An online survey was posted on Facebook that included questions relating to 4 sample test results for risk of developing colorectal cancer, heart disease and skin cancer. Genetic counselors were used as a comparison group.

Results: 145 individuals from the general public and 171 genetic counselors completed the survey. A significant difference was found between the way the general public and genetic counselors interpreted the meaning of the DTC results. The general public respondents also believed that results in all 4 scenarios would be significantly more helpful than the genetic counselors did. Although the majority of general public respondents rated the results as easy to understand, they often misinterpreted them.

Conclusions: These findings imply that the general public has the potential to misinterpret DTC results without appropriate assistance. Further research is needed to explore optimal methods of providing DTC test results and ways to minimize the risk of negative consequences for consumers.

MeSH terms

  • Access to Information*
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Community Participation*
  • Female
  • Genetic Counseling
  • Genetic Testing / statistics & numerical data*
  • Health Knowledge, Attitudes, Practice*
  • Health Surveys
  • Humans
  • Judgment
  • Male
  • Middle Aged
  • Perception*
  • Public Opinion*
  • Young Adult