Portero Versus Portador: Spanish Interpretation of Genomic Terminology During Whole Exome Sequencing Results Disclosure

Abstract

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::

• communication barriers
• genomic terminology
• genomics
• interpretation accuracy
• medical interpreters
• Spanish-speakers

Acknowledgements

The authors would like to thank R Raesz-Martinez, SA Gutierrez, U Ramamurthy and her team at the Baylor College of Medicine Institute for Clinical and Translational Research, PD Hodges, G Lázaro-Muñoz and JD Hofstetter. The authors would like to especially thank the oncologists and parents who participated in this study and all hospital interpreters for playing a crucial clinical role for limited English proficient patients and their families.

Financial & competing interests disclosure

Baylor College of Medicine and Miraca Holdings, Inc. have formed a joint venture with shared ownership and governance of the Baylor Genetics Laboratories which performs exome sequencing. SE Plon serves on the Scientific Advisory Board of Baylor Genetics Laboratory. The BASIC3 study is a Clinical Sequencing Exploratory Research program project supported by the National Human Genome Research Institute and the National Cancer Institute (U01HG006485). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved. The Baylor College of Medicine Institutional Review Board, which also serves as the Institutional Review Board for Texas Children’s Hospital, approved the BASIC3 study protocol.

Additional information

Funding

Baylor College of Medicine and Miraca Holdings, Inc. have formed a joint venture with shared ownership and governance of the Baylor Genetics Laboratories which performs exome sequencing. SE Plon serves on the Scientific Advisory Board of Baylor Genetics Laboratory. The BASIC3 study is a Clinical Sequencing Exploratory Research program project supported by the National Human Genome Research Institute and the National Cancer Institute (U01HG006485). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.