The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists.
Enetics services
Genomics
Health policy
Health services accessibility
Human genetics
Public health
Journal
Journal of community genetics
ISSN: 1868-310X
Titre abrégé: J Community Genet
Pays: Germany
ID NLM: 101551501
Informations de publication
Date de publication:
01 Mar 2024
01 Mar 2024
Historique:
received:
27
12
2023
accepted:
22
02
2024
medline:
1
3
2024
pubmed:
1
3
2024
entrez:
1
3
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38427313
doi: 10.1007/s12687-024-00702-1
pii: 10.1007/s12687-024-00702-1
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
© 2024. The Author(s).
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