We opted for an inclusive approach to enable an in-depth exploration of the experiences and needs of medical genetics professionals and provide the opportunity to propose changes for genetic health services in Portugal. The co-produced recommendations highlight opportunities to enhance awareness and equity in accessing genetic health services.

The overall results of the conducted studies highlight the emergent need for significant transformations in Medical Genetics services in Portugal. The present findings underscore evidence of a shortage of human resources, the lack of an updated model for providing genetic care, and the necessity for more targeted and tailored public policies addressing the deficiencies in these services. All these fundamental challenges seem to require immediate attention to ensure efficient and high-quality patient care, considering the importance of maintaining services in the country at an internationally competitive level. Consistent with the available literature, there arises the need for a multidisciplinary and multiprofessional approach, investment in education and training, the integration of new professional roles, and the implementation of specific policies as crucial strategies to improve the quality and access to health services for those affected by genetic diseases in Portugal (Magalhães et al. 2016; Guimarães et al. 2024).According to the participating specialists, increasing the number of genetics professionals and other professional orders in medical genetics services is a priority strategy to address current challenges. The recommendation from the Royal College of Physicians UK for a ratio of 6–12 genetics professionals per million population underscores the importance of having an adequate workforce to meet the population’s needs (Abacan et al. 2018). However, few countries are close to meeting this recommendation, resulting in appointment delays, growing waiting lists, and burdening existing professionals (Dragojlovic et al. 2020; Maiese et al. 2019).

The stress resulting from workload overload, combined with the inherent responsibility of interpreting crucial genetic information for patients, can contribute to burnout and exhaustion (Hodkinson et al. 2023). This empirical work encountered a class of professionals exhausted, overwhelmed in the midst of several tasks, and struggling against ever-growing waiting lists for consultations. In this regard, the latest Annual Report on Access to Healthcare in SNS Establishments and Conventional Entities (Ministério da Saúde 2019) indicates that only 62.9% of the country’s Medical Genetics consultations occur within the guaranteed Maximum Response Time (TMRG). These data demonstrate the exceptionally challenging situation of Portuguese genetic services.

Hiring more genetic professionals, such as clinical geneticists, molecular geneticists, and other genetic specialists is one solution (Mikat-Stevens et al. 2015; Stoll et al. 2018; Costa et al. 2023) to meet the growing demand driven by technological advances in genomics and the increasing need to address a broader range of genetic conditions (Paneque et al. 2015).

Several other studies have evidenced the need to reinforce human resources at genetic services, as a crucial factor in enhancing the responsiveness of genetic services (Leach et al. 2017; Madlensky et al. 2017). Strengthening the teams helps reduce disparities in access to genetic services (Mikat-Stevens et al. 2015), allowing clinicians to focus on tasks aligned with their specific training (Stoll et al. 2018). These actions combined lead to more efficient and quality care delivery, improving patient outcomes.

The study participants also emphasize the importance of integrating a more collaborative and multidisciplinary healthcare service delivery model. The shift from a model centered around a single specialist to a collaborative model involving various professionals such as clinical geneticists, specialists from other medical fields, genetic counsellors, nurses, psychologists, and social workers is highlighted as an essential strategy to ensure the growth of Medical Genetics services and a holistic and more effective approach to the treatment of genetic conditions (Jamal et al. 2020; López-Fernández et al. 2020). This aligns with findings from other scientific studies, emphasizing the need for multiprofessional teams, with genetics experts working in collaboration with professionals from various fields, to provide comprehensive and personalized care (Gupta and Endrakanti 2023).

Furthermore, other medical genetics professionals, such as genetic counsellors and genetic nurses, play a significant role in providing comprehensive and quality care. Integrating genetic counsellors into medical genetics services already brings substantial benefits, as their skills complement those of genetic physicians (Paneque et al. 2017). The role of genetic counsellors could become of paramount importance in Portugal at the interface between Genetics services and the community, especially with patients and the associations that aim to represent them, playing a crucial role in promoting health in Genetics: providing greater accessibility, understanding, and emotional support for communities affected by genetic diseases (Roulston et al. 2023). Genetic counsellors offer psychosocial support, helping patients cope with the emotional impact of their condition, make informed decisions about genetic testing and treatments, and address ethical and moral issues (Lally e Laurino 2022). From another perspective, genetic counsellors play a vital role in raising awareness of genetic issues in the community (Lara-Otero et al. 2019; Ormond et al. 2023). They may be involved in educational programs, workshops, and awareness campaigns to inform the public about the importance of Genetics, prevention, and available services.

From a healthcare perspective, the participating professionals address the urgency of updating the Referral Network, which defines the main public genetics services and private institutions. Determining this network will optimize resources and ensure a comprehensive and collaborative approach to enable equal access to specialized genetic care.

The issue of the referral network is a comprehensive challenge that transcends the specialty of Genetics and affects various areas of healthcare in Portugal. The participating experts, while acknowledging the need for significant change, find themselves unable to lead effective proposals due to the workload that characterizes their services. Lack of time and resources to dedicate to restructuring initiatives becomes a significant barrier to promoting changes in the referral network. This situation reflects a broader dilemma in the healthcare system, where workload compromises the capacity of professionals beyond their direct clinical responsibilities. Finding solutions requires not only a desire for change but also a context that provides the necessary resources and support for Medical Genetics specialists and other healthcare professionals to collaborate in defining effective improvement proposals. The structural limitations in Medical Genetics services in Portugal itself reflect significant resource shortages and the urgency of defining this network. The lack of structure, evidenced even in the shortage of offices to accommodate different specialists, is an example of the severe physical limitations that services face.

This infrastructural deficiency not only compromises patient comfort but also impacts the efficiency and quality of services provided by professionals, limiting the ability of services to hire new professionals to expand care. To promote sustainable growth and meet the needs of the population, it is crucial to invest in expanding and modernizing the infrastructure of Medical Genetics services.

On the other hand, integrating reference centers and laboratories into this network will allow differentiated and highly specialized care provision. Moreover, these specialized centers are at the forefront of research on rare diseases as they have access to the latest scientific advancements and can rapidly implement new treatments and therapeutic approaches (Diário da República 2015). Portugal’s participation in European reference networks that bring together healthcare providers across Europe is also extremely important to facilitate the debate on rare diseases and concentrate available knowledge and resources.

The update of the Medical Genetics referral network dating back to 2004 (Direcção-Geral da Saúde, 2004), with the formation of a multidisciplinary working team, is thus fundamental and marks a significant step in addressing the present and future challenges involving genetic services in Portugal. The inclusion of representatives from the Directorate-General of Health, various genetics services in the country, and members of the Specialty College, as suggested by participating experts, will establish a collaborative approach that integrates different perspectives and experiences. The participation and leadership of experts from other areas of healthcare, familiar with the context of Medical Genetics, are crucial to ensuring a comprehensive and informed view and the timely definition of the current structure of genetic care. The role of this working team goes beyond a simple update of the network; it has the potential to redefine strategies, strengthen coordination, and promote efficiency in Medical Genetics care in Portugal.

The participating specialists also highlight the importance of the role of the genetic physician in care coordination and communication with other healthcare professionals. They emphasize the need for training and educating other healthcare professionals in genetics, encouraging collaboration, direct supervision, and interdisciplinary meetings as described in other countries (Unim et al. 2017, 2020; Tizzano Ferrari 2017; Cassiman 2010; Roberts et al. 2014).

Participants emphasized the importance of policies focused on undergraduate and postgraduate training in medical genetics as a fundamental means to improve the knowledge and competence of healthcare professionals from other specialties. Gaps in genetics knowledge can lead to significant medical errors with medical, ethical, financial, and psychosocial implications for patients and their families, such as requesting the wrong test, misinterpreting test results, or incorrectly assuming a variant (Farmer et al. 2019, 2021). In this regard, efforts should ensure that all medical and multiprofessional specialties have a general knowledge of medical to promptly refer patients to specialized centers whenever possible (Strnadová et al. 2022).

In this context, particularly General Practitioners (GPs) are crucial in filtering information and guiding patients faced with the growing demand for genetic tests, ensuring they understand the implications, limitations, and potential risks (Magalhães et al. 2016; Paneque et al. 2016). Strengthening genetics training for GPs and providing services for Medical Genetics consultation can be effective strategies to bridge the gap between relatively low demand and the need for specialized knowledge in Genetics, ensuring that all patients have access to accurate information and appropriate guidance when needed (Harding et al. 2019; Cusack et al. 2021).

To assist in this primary healthcare consultation process, genetic counsellors can play a relevant role as guides, assisting GPs in scheduling appointments, interpreting genetic test results, and facilitating communication between patients and Medical Genetics services (Carroll et al. 2019; Slomp et al. 2022).

In following this shift, digital health programs can emerge as an innovative solution to overcome geographical barriers and facilitate access to genetic care for a broader range of patients. The implementation of teleconsultations and professional counseling through digital platforms provides an opportunity to overcome physical limitations, allowing individuals in remote areas or with reduced mobility to access specialized genetic services without the need for extensive travel (Dantas et al. 2023).

Furthermore, the integration of digital genetic counselling can play a crucial role. By offering remote guidance, these programs can facilitate efficient communication among healthcare professionals, enabling General Practitioners to obtain specialized advice from genetics professionals for specific cases. This not only optimizes the efficiency of care provision but also promotes a collaborative and interdisciplinary approach to managing genetic issues (Bombard et al. 2022; Cazzaniga et al. 2022). However, it is essential to ensure that such programs maintain high standards of security and privacy, along with the inclusion of ethical guidelines to ensure quality and responsibility in the provision of these digital services in the field of Medical Genetics.

Adopting standards of practice in genetic healthcare is another essential aspect pointed out by participants, who advocate for the existence of more effective models, national guidelines for pathologies, and national consensuses on genetic counselling, etiological investigation, etc. Despite adhering to the norms of the European Board of Medical Genetics (EBMG), experts believe that national standards can help harmonize differences between genetic services regarding education and genetic practice,, ensure that professionals are aligned with best practices and updated guidelines, and regulate the quality and competence in the provision of genetic services (Paneque et al. 2016). This regulation contributes to patient safety, result reliability, and the assurance of ethical and responsible practice (Unim et al. 2019).

In the current context, Portugal continues to work on improving genetic services to meet the needs of the Portuguese population. The practice of Medical Genetics in Portugal reveals a challenging scenario, as the growing demand for these services is not aligned with the current capacity of the health system. Understanding this local context is essential to assess the relevance of studies and research related to medical genetics in Portugal and better inform genetic health practices and policies.

The implementation of a change in Medical Genetics services in Portugal is therefore an urgent necessity, considering the significant transformations brought about by genomics in healthcare services worldwide. However, it is essential to maintain a realistic view of all these issues and know where to start: structural and concerted changes are not possible without national political interventions.

Perhaps the first step is even prior to the conclusions raised in this study, involving a global psychoeducation about genetic diseases that, more than being rare, have a significant impact on those living with them in their identity. Geneticists can already begin to make some small changes in their genetic services (e.g., improving coordination with other specialties, promoting networking with other geneticists). Later, with better working conditions and more professionals in the services, educational programs can be implemented, and a public portal/mobile application with genetic information can be created. At a more challenging higher level, political involvement will be necessary for implementing changes in primary healthcare and recognizing the profession of genetic counsellor.

Only effective coordination among all these instances and bodies responsible for health, education, and social intervention policies can make the future directions presented here a reality.

Using a convenience sample may restrict the representativeness of professionals from genetic services. However, all public medical genetic services were included in the study.

The lack of a publicly available and up-to-date listing of healthcare entities offering genetic consultations and their professionals hindered the sampling process and may have influenced the results. Nevertheless, it is important to emphasize that the study is exploratory and reflects the specific reality of hospital genetics in Portugal. Caution should be exercised in interpreting the results. However, the study is relevant as it provides crucial insights into the current state and needs of genetic services, highlighting the imminent need for structural change.