Personalized Medicine · 2017 · 27 citations · 18 references
Life SciencesGeneticsMolecular GeneticsGenetic CounselingGenomicsHispanic LinguisticsClinical GenomicsGenomic AnnotationHealthcare InterpretingMedical InterpretingSpanish BilingualismVariant InterpretationClinical Genome InterpretationClinician-interpreter CollaborationCross-lingual Medical TerminologyDiagnostic GenomicsExome SequencingMedical Terminology InterpretationTerminology Variation AnalysisWhole Exome Sequencing Studies
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.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text