A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation

Paneque, Milena; Carvalho, Márcia; Rodrigues, F.; Saraiva, Jorge; Leonardo, Alexandra; Sousa, Ana Berta; Machado, Vânia Maria Vasconcelos; Gonçalves-Rocha, Miguel; Sequeiros, Jorge; Costa, Patrício; Lemos, Marina Serra de

doi:10.1016/j.ejmg.2021.104375

Cited by 2 publications

(1 citation statement)

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“…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 ).…”

Section: Introductionmentioning

confidence: 99%

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

Costa,

Guimarães,

Baião

et al. 2024

J Community Genet

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In the last decades, genetics has experienced significant technological advancements worldwide. However, in Portugal, serious limitations persist, compromising the functioning of healthcare in medical genetics. This study aimed to promote sharing and discussion among genetic medical professionals, to outline concrete actions to address gaps in clinical practice. Three focus groups were conducted with 19 specialists in medical genetics. The data were analyzed using the thematic analysis method to extract the main themes from the discussions. From the analysis, four conceptual themes emerged: (i) framing Portuguese genetic services in light of the European context; (ii) improvement of medical genetics education and population literacy; (iii) transforming of medical genetics services; and (iv) operationalizing the change. The results demonstrated that increasing training resources and strengthening multiprofessional teams by hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists, is crucial to enhancing the responsiveness of genetic services. Integrating medical genetics into all specialties and primary care, as well as updating the national network of medical genetics, are critical points for increasing equity and enabling healthcare to be provided more fairly. Including other medical genetics professionals such as genetic counsellors, nurses and psychologists also plays a significant role in providing comprehensive and quality care. This collaborative approach aims to provide effective genetic assistance and enhance the adequacy of genetic healthcare. The findings are compiled as recommendations to support the profession moving forward that can be applied to other healthcare contexts worldwide.

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Section: Introductionmentioning

confidence: 99%