Patient safety in genomic medicine: an exploratory study

Genet Med. 2016 Nov;18(11):1136-1142. doi: 10.1038/gim.2016.16. Epub 2016 Mar 24.


Purpose: Concerns about patient safety and the potential for medical error are largely unexplored for genetic testing, despite the expansion of test use. In this preliminary qualitative study, we sought the views of genetics professionals about error and patient safety concerns in genomic medicine and factors that might mitigate them.

Methods: Twelve semistructured interviews with experienced genetics professionals were conducted. Transcripts were analyzed using selective coding for issues related to error definition, mitigation, and communication. Additional thematic analysis captured themes across content categories.

Results: Key informants suggested that the potential for adverse events exists in all phases of genetic testing, from ordering to analysis, interpretation, and follow-up. A perceived contributor was lack of physician knowledge about genetics, resulting in errors in test ordering and interpretation. The limitations and uncertainty inherent to rapidly evolving technology were also seen as contributing factors. Strategies to prevent errors included physician education, availability of genetic experts for consultation, and enhanced communication such as improved test reports and electronic decision support.

Conclusion: Genetic testing poses concerns for patient safety due to errors and the limitations of current tests. As genomic tests are integrated into medical care, anticipating and addressing patient safety concerns identified by these key informants will be crucial.Genet Med 18 11, 1136-1142.

Publication types

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

MeSH terms

  • Adult
  • Attitude of Health Personnel
  • Female
  • Genetic Testing / ethics
  • Genetic Testing / standards*
  • Genomics*
  • Humans
  • Male
  • Medical Errors*
  • Patient Safety / standards*
  • Precision Medicine
  • Qualitative Research
  • Uncertainty