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.