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What is it about?

Genetic counseling (GC) is a communication process that helps individuals and families understand and adapt to the medical, psychological, and familial implications of genetic conditions. Since the significant advancements in genomics in the 1990s, the demand for specialized services has grown, leading to the professionalization of the field and the expansion of GC as a career. In 2018, Portuguese researchers developed the “Tool for Quality Assessment of Genetic Counseling,” a 50-item, 5-point Likert scale designed to assess professionals' perspectives on the quality of genetic counseling services. In this study, we adapted this tool into Brazilian Portuguese and validated it with a sample of Brazilian clinical geneticists, conducting an initial assessment of GC quality in Brazil. Our findings suggest that Brazilian professionals are achieving the intended outcomes of genetic counseling. However, systemic deficiencies in service infrastructure negatively affect their overall perception of GC quality.

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Why is it important?

The cross-cultural adaptation and validation of the “Tool for Quality Assessment of Genetic Counseling” is a key step for Brazilian professionals, providing a valuable resource for future research and practical applications. This instrument lays a solid foundation for advancing studies and improving genetic counseling services.

Perspectives

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Having a tool that captures the perspectives of clinical geneticists and helps assess service quality can be instrumental in identifying existing gaps. This, in turn, can support the development of strategies for future action plans and improvements in current services.

Maria Vitoria Gomes da Silva
Federal University of São Carlos

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This page is a summary of: Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists, Journal of Community Genetics, January 2025, Springer Science + Business Media,
DOI: 10.1007/s12687-025-00767-6.
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