Evaluation of genetic counseling quality in Brazil

• Grant number: 23/08788-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: October 01, 2023
• End date: September 30, 2024
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Maria Vitória Gomes da Silva
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

Introduction: Genetic counseling (GC) is a communication process that aims to help individuals understand and adapt to problems associated with the occurrence or recurrence of a genetic disease in a family. With the improvement in the diagnosis and treatment of genetic diseases, there was an increase in the search for GC services. In this context, the challenges for the exercise of GC became more evident, thus resulting in the first studies evaluating GC with an emphasis on the point of view of patients and family members. In 2014, the "Genetic Counseling Quality Assessment Scale" was developed in Portugal, which assesses the quality of the service offered from the professional's point of view.Aims: This project aims to evaluate the quality of GC in Brazil based on the "Genetic Counseling Quality Assessment Scale". It is also intended to induce the research participants to reflect on their professional practice and collaborate to identify the status of GC carried out in the country.Methods: This is a descriptive and cross-sectional study with a quantitative methodology. The adopted scale will be submitted to content validation by eight expert judges, selected for convenience. After adaptation, the scale will be applied to medical professionals and nurses, linked to the Brazilian Society of Medical Genetics and Genomics and the Brazilian Society of Nursing in Genetics and Genomics, respectively. Data will be analyzed using descriptive and inferential statistics; acceptability (floor and ceiling effects), reliability (Cronbach's alpha), and internal construct validity (exploratory factor analysis) of the instrument will be analyzed.Expected results: Validate the "Genetic Counseling Quality Assessment Scale" developed in Portugal into Brazilian Portuguese and assess the quality of GC in the country based on this scale. At last, it is intended to analyze the current state of the GC in Brazil, which can contribute to future professional improvements.