Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde

Abstract

The scale proposed at this study is a novel and multidimensional instrument that aimed to contribute to the improvement of genetic counselling practice in Portugal.

The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists

“…With a growing imbalance between supply and demand, alternative models of genetic service provision are needed. Thus, over the past years, multidisciplinary work has been developed to evolve the efficiency and quality of medical genetics and genetic counselling, seeking to identify and suggest changes to structural and human shortcomings (Paneque et al 2018 , 2021 ). The most recent study in Portugal, conducted with national directors of genetics services, demonstrates that medical genetics healthcare needs to redefine its place in the healthcare system and improve the organization and composition of services, based on a multidisciplinary, multiprofessional and patient-centered approach (Costa et al 2023 ).…”

The Contribution of the Reciprocal‐Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling

“…We read the seminal article BComing full circle: a reciprocalengagement model of genetic counseling practice^ (McCarthy Veach et al 2007) that resulted from the process of defining a model of genetic counseling and practice normalization, encompassing contributions from previous models. The Reciprocal-Engagement Model (REM) proposed by the authors served as the theoretical-practical foundations of the recently developed Portuguese scale for quality assessment of genetic counseling (Paneque et al 2018).…”

“…The final product was a version with 50 items that comprises five dimensions and its respective sub dimensions: education (provision of genetic information, patient understanding, and establishment of mutual agenda), the counselees' characteristics as part of the process (their emotional experience and motivations, and decision-making support), relationship between the counselor and the counselee (therapeutic relationship, empathy, reflexive practice, and professionalism), potential effects of the process on the counselee (empowerment), and services provision (organization of services and preparation of counselee for the genetic counseling session). The methodological design, preliminary validation, results, and challenges faced along the development process of this first Portuguese instrument are reported in Paneque et al (2018).…”

“…Besides being a pioneer tool in Portugal, the constructed scale is perhaps the first practical application of the Reciprocal-Engagement Model in the context of genetic services in Europe (Paneque et al 2018). Thus, we would like to point out the remarkable reaction of interest from Portuguese professionals towards the REM.…”

“…Throughout the process of psychometric validation of the scale, the main public genetic services of the country were contacted and several meetings were organized with multidisciplinary teams. During those contacts, and as part of the explanations provided regarding the procedures for participation in the psychometric validation, the pivotal article of McCarthy Veach et al (2007) was presented (Paneque et al 2018). The professionals involved in the validation process highlighted as very relevant for practice assessment the association of each genetic counseling principle with specific goals, strategies, and behaviors in the REM.…”