Skip to main content

Service provision of genetics health care in Portugal


In recent decades, genetics has undergone important technological advances. The rapid shift to genomics has made a strong impact on health systems around the world. In Portugal, this huge increase in consultations and typologies of genetic tests has joined the serious limitations of the few existing genetics services. The following study aims to characterize the current state of the network of genetics services in Portugal regarding its functioning, main challenges, and opportunities. Five semi-structured interviews were conducted, corresponding to 83.33% of the directors of the public genetics services of the National Health Service. Four thematic categories emerged from the analysis: (1) specialty and technical developments, (2) structural difficulties, (3) potentialities, and (4) future directions. The developments are due to the emergence of more comprehensive genetic applications, specific protocols and patient referral standards, and accreditation of services. The main difficulties encountered in the functioning of the services were difficulty in obtaining funding, lack of human resources, service overload, and lack of exclusive time for training and research. The potentialities mentioned were the establishment of multidisciplinary teams and the best articulation with specialists from other areas. Among the various future directions pointed out, better management of patients’ waiting lists, the importance of research, the simplification of test request procedures, and the creation of specialized units inside the genetic services, were reported. The results showed several gaps in the practice of medical genetics that should be addressed with the development of public policies for the recognition and restructuring of medical genetics in health care. 

This is a preview of subscription content, access via your institution.

Fig. 1


Download references


To the directors of the genetics services that collaborated with this work from the University Hospital Center of Coimbra (Centro Hospitalar Universitário de Coimbra), the University Hospital Center of São João (Centro Hospitalar Universitário de São João), the University Hospital Center of Central Lisbon (Centro Hospitalar Universitário de Lisboa Central), and the University Hospital Center of North Lisbon (Centro Hospitalar Universitário Lisboa Norte) and the Hospital of Braga.


This study was carried out with the financing of the PhD scholarship concluded with the Foundation for Science and Technology (Fundação para a Ciência e Tecnologia) with the reference SFRH/BD/145679/2019, attributed to the author Catarina Costa.

Author information

Authors and Affiliations



CC: study design, data collection and interpretation, writing of the manuscript.

MSL: critical review of the work and approval of the final version of the manuscript.

LFA: critical review of the work and approval of the final version of the manuscript.

MP: data collection and interpretation, critical review of the work, and approval of the final version of the manuscript.

Corresponding author

Correspondence to M. Paneque.

Ethics declarations

Competing interests

The authors declare no competing interests.

Conflict of interest

The authors declare no competing interests.

Protection of people

The authors declare that the procedures followed were in accordance with the regulations established by the heads of the Clinical And Ethical Investigation Commission (Comissão de Investigação Clínica e Ética) and in accordance with the World Medical Association Declaration of Helsinki updated in 2013. Informed consent was obtained from all participants to be included in the study.

Data confidentiality

The authors declare they followed the protocols of their work center on data publication.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Costa, C., Lemos, M.S., Azevedo, L.F. et al. Service provision of genetics health care in Portugal. J Community Genet 14, 101–113 (2023).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:


  • Genetics services
  • Genomics
  • Health policy
  • Health services accessibility
  • Human genetics
  • Public health