Date of Award

5-2019

Document Type

Thesis - Open Access

Degree Name

MS Human Genetics

Department

Human Genetics Graduate Program

Abstract

Clinical exome sequencing (CES) is an established method for genetic diagnosis that is commonly used in clinical practices. Studies examining the CES experience for families have primarily been non-Latino white participants who speak English. To begin to address how these experiences may differ in other populations, we conducted in-depth semi-structured interviews. Interviews were completed with 22 Latino parents (14 in English; 8 in Spanish) of children who had pediatric CES at Columbia University Medical Center and received results within three to 20 months of the interview. We also measured acculturation with a standardized scale. Similar to prior studies, parents reported varied emotional reactions to their child’s results. Parents largely understood their child’s CES results though were not always able to correctly recall recurrence risk. The majority of participants reported feelings of anxiety while waiting for CES results. Some parents, particularly those not fluent in English with lower acculturation scores, reported language barriers to their understanding of the testing and their child’s care. Faith appeared to be a positive coping mechanism that was more frequently reported by participants with lower acculturation scores. Our findings are consistent with many of the previous studies of parental experience of CES but highlight some key findings that warrant further study and potentially inform practice. Larger studies should explore potential associations between acculturation and parental understanding or emotional response to results. The minimal language barriers reported by Spanish-speaking patients reiterates the importance of a Spanish-speaking provider, when possible, and bilingual resources.

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