da Silva Maria Vitoria Gomes, Sousa Kathleen da Silva, Costa Catarina, Lemos Carolina, Paneque Milena, Germano Carla Maria Ramos, de Avó Lucimar Retto da Silva, Melo Débora Gusmão
Department of Medicine, Federal University of São Carlos (UFSCar), São Carlos, Brazil.
Graduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
J Community Genet. 2025 Apr;16(2):151-159. doi: 10.1007/s12687-025-00767-6. Epub 2025 Jan 18.
In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions "genetic counseling outcomes" (100%), "education" (86.41%), and "individual attributes" (80%) were rated as very good, "counselor-client relationship" (76.33%) as good, and "service functioning" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.
2018年，葡萄牙研究人员提出了“遗传咨询质量评估工具”，这是一个5点李克特量表，包含五个维度的50个项目，旨在从专业人员的角度评估遗传咨询。这项描述性横断面研究旨在将该工具改编为巴西葡萄牙语，在巴西临床遗传学家中进行验证，并对巴西遗传咨询的质量进行初步评估。改编过程包括专家主导的内容验证和内容效度指数（CVI）的计算，以确保原始版本和改编版本之间的等效性。随后，将改编后的工具应用于81名临床遗传学家，包括医生和护士，并使用主成分分析对数据进行分析。为了解释目的，保留因子载荷高于0.4的项目。结果进行了标准化和分类。改编后的项目获得了可接受的CVI，范围从0.831到1.0，显示出很强的效度。量表结果显示，“遗传咨询结果”（100%）、“教育”（86.41%）和“个人属性”（80%）维度被评为非常好，“咨询师-客户关系”（76.33%）为良好，“服务功能”（59.95%）为足够。这些发现表明，尽管参与者认为他们提供的遗传咨询达到了预期结果，但服务功能的不足对整体质量的认知产生了负面影响，突出了进行系统性改进以提高服务提供的必要性。这种跨文化改编验证了一种适用于巴西专业人员的可靠新工具，为未来在不同临床环境中的研究和应用提供了坚实的基础。
