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. 2020 Aug;29(4):574-586.
doi: 10.1002/jgc4.1276. Epub 2020 Apr 16.

A qualitative study of Latinx parents' experiences of clinical exome sequencing

Daniel Luksic  1 , Radha Sukhu  1 , Carrie Koval  2 , Megan T Cho  1 , Aileen Espinal  2 , Katiana Rufino  2 , Tania Vasquez Loarte  2 , Wendy K Chung  2   3 , Julia Wynn  2
Affiliations

A qualitative study of Latinx parents' experiences of clinical exome sequencing

Daniel Luksic et al. J Genet Couns. 2020 Aug.

Abstract

Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely in clinical practice. Studies of the parental experience of CES, which inform guidelines for best practices for genetic counseling, have been predominately comprised of White, non-Latinx participants. The aim of this study was to explore the parental experiences of CES in a Latinx community and to understand how their experiences are influenced by culture and language. We conducted semi-structured interviews in English and Spanish with 38 Latinx parents of children who had CES. Some of the themes that emerged were common to those previously identified, including a sense of obligation to pursue testing and a mixed emotional response to their child's results. Parents who had lower education level and/or received care from a provider who did not share their language had more confusion about their child's CES results and greater dissatisfaction with care compared with parents who had higher education level and/or received care from a provider who spoke their language. We also found evidence of hampered shared decision making and/or disempowered patient decision making regarding CES testing. Our data suggest unique needs for Latinx families having CES, particularly those who are non-English speaking when an interpreter is used. Our data support the value in continuing to take steps to improve culturally competent care by improving interpretation services and recruiting and training a genetic workforce that is ethnically, linguistically, and culturally diverse.

Keywords: attitudes; beliefs; cultural competence; diversity; exome sequencing; genetic counseling; genetic services; genetic testing; parents; pediatrics; psychosocial; underrepresented populations.

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Conflict of interest statement

CONFLICT OF INTEREST

Daniel Luksic declares that he has no conflict of interest.

Radha Sukhu declares that she had no conflict of interest

Carrie Koval declares that she has no conflict of interest.

Megan T. Cho declares that she has no conflict of interest.

Aileen Espinal declares that she has no conflict of interest.

Katiana Rufino declares that she has no conflict of interest.

Tania Vasquez Loarte declares that she has no conflict of interest.

Wendy K Chung declares that she has no conflict of interest.

Julia Wynn declares that she has no conflict of interest.

Figures

Figure 1:
Figure 1:
Parental interpretation of results according to parent-provider (P-P) language
Figure 2:
Figure 2:
Parental interpretation of results according to SASH acculturation scores. Abbreviations: Marin’s Short Acculturation Scale for Hispanics (SASH)
Figure 3:
Figure 3:
Parental interpretation of results according to parental education. Abbreviations: high school (HS)
See this image and copyright information in PMC

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