Evidence map›Paper›PMID 39826034›Full record

ArticleJournal of community genetics2025

Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.

Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo

Abstract read
In one paragraph

Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Maria Vitoria Gomes da SilvaDepartment of Medicine, Federal University of São Carlos (UFSCar), São Carlos, Brazil.ORCID http://orcid.org/0000-0001-6704-1163
Kathleen da Silva SousaGraduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.ORCID http://orcid.org/0000-0001-7628-9857
Catarina Costai3S, Institute for Research and Innovation in Health, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0003-1692-0402
Carolina LemosICBAS, School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0001-9803-9584
Milena Panequei3S, Institute for Research and Innovation in Health, University of Porto, Porto, Portugal.ORCID http://orcid.org/0000-0002-6535-4315
Carla Maria Ramos GermanoDepartment of Medicine, Federal University of São Carlos (UFSCar), São Carlos, Brazil.ORCID http://orcid.org/0000-0001-5030-7164
Lucimar Retto da Silva de AvóDepartment of Medicine, Federal University of São Carlos (UFSCar), São Carlos, Brazil.ORCID http://orcid.org/0000-0001-7282-420X
Débora Gusmão MeloGraduate Program in Structural and Functional Biology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil. dgmelo@unifesp.br.ORCID http://orcid.org/0000-0001-7005-3544

Funding

São Paulo Research Foundation (FAPESP) 23/08788-8
6 · The paper itself

Abstract

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.

Indexed as

BrazilDelivery of health careGenetic counselingGenetic servicesGenetics, medicalHuman genetics

Identifiers

PMID39826034
PMCPMC11978999

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.