How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

Public Health Genomics. 2015;18(4):216-24. doi: 10.1159/000431250. Epub 2015 Jun 16.


Aim: To assess customer comprehension of health-related personal genomic testing (PGT) results.

Methods: We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer's disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension.

Results: Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores.

Conclusions: Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics
  • Comprehension*
  • Cystic Fibrosis / genetics
  • Demography
  • Diabetes Mellitus, Type 2 / genetics
  • Educational Status
  • Ethnicity / genetics
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing*
  • Genetics / education
  • Genome, Human / genetics*
  • Genomics*
  • Health Knowledge, Attitudes, Practice*
  • Heterozygote
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / pharmacology
  • Male
  • Middle Aged
  • Pharmacogenetics
  • Phenylketonurias / genetics
  • Precision Medicine / psychology*
  • Risk
  • Risk Assessment
  • Young Adult


  • Hydroxymethylglutaryl-CoA Reductase Inhibitors