Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure

Per Med. 2017 Nov;14(6):503-514. doi: 10.2217/pme-2017-0040. Epub 2017 Nov 21.


Aim: Describe modifications to technical genomic terminology made by interpreters during disclosure of whole exome sequencing (WES) results.

Patients & methods: Using discourse analysis, we identified and categorized interpretations of genomic terminology in 42 disclosure sessions where Spanish-speaking parents received their child's WES results either from a clinician using a medical interpreter, or directly from a bilingual physician.

Results: Overall, 76% of genomic terms were interpreted accordantly, 11% were misinterpreted and 13% were omitted. Misinterpretations made by interpreters and bilingual physicians included using literal and nonmedical terminology to interpret genomic concepts.

Conclusion: Modifications to genomic terminology made during interpretation highlight the need to standardize bilingual genomic lexicons. We recommend Spanish terms that can be used to refer to genomic concepts.

Keywords: Spanish-speakers; communication barriers; genomic terminology; genomics; interpretation accuracy; medical interpreters.

Publication types

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

MeSH terms

  • Child
  • Exome Sequencing*
  • Female
  • Genetic Counseling / methods
  • Genetic Counseling / standards*
  • Genomics*
  • Hispanic or Latino
  • Humans
  • Male
  • Multilingualism
  • Neoplasms / genetics
  • Professional-Family Relations*
  • Terminology as Topic*
  • Texas
  • Translating
  • Truth Disclosure*