Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results

Clin Genet. 2021 May;99(5):638-649. doi: 10.1111/cge.13917.


The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics professionals to describe interpretation challenges, the types of variants that were involved, and the reported clinical impact of misconception of a test result. Case studies were then collected from a select group to further explore potential causes of misunderstanding. A total of 83% of survey respondents were aware of at least one instance of genetic test misinterpretation. Both professionals with and without formal training in genetics were challenged by test reports, and variants of unknown significance were most frequently involved. Case submissions revealed that interpretation pitfalls extend beyond variant classification analyses. Inferred challenges in case submissions include lack of genetic counseling, unclear wording of reports, and suboptimal communication among providers. Respondents and case submitters noted that incorrect interpretation can trigger unnecessary follow-up tests and improperly alter clinical management. Further research is needed to validate and quantify large-scale data regarding challenges of genetic results interpretation.

Keywords: genetic counseling; genetic results; medical error; medical genetics; misinterpretation.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Data Interpretation, Statistical
  • Genetic Testing*
  • Genetics*
  • Health Care Surveys
  • Humans
  • Professional Competence*
  • Retrospective Studies