Portugal has five medical genetics services, government funded and part of the National Health Service. At the present time, less than half of the graduate clinical geneticists are actively involved full-time in the practice of medical genetics. Since 2005, legislation requires that genetic counseling should be provided whenever a hereditary disease is diagnosed, and that prenatal, carrier, presymptomatic and susceptibility tests be preceded and followed by genetic counseling; nevertheless, the profession of (non MD) genetic counselor has not yet been recognized and those existing are not all incorporated into genetic services.

This paper intends to report the development of genetic counseling in Portugal, namely by evidencing the establishment of a national education and training programme, the contribution of research to the field, and how can genetics healthcare be improved with the integration of genetic counselors in the multidisciplinary teams of all medical genetics services. We also explore the current challenges for this growing profession and specific issues related to the provision of genetic counseling.

The Portuguese Scenario: History and Current Organization of Services

In 2011, the population of Portugal was 10,562,178 (Instituto Nacional de Estatística 2012). There are five medical genetic services in the National Health System (NHS) and these are primarily funded by the government: two in Porto (North), one in Coimbra, (Center) and two in Lisbon (South) (Directorate-General of Health 2004); an additional genetics service in the interior North is now seriously understaffed and practically deactivated. Any medical doctor may refer a patient or family to the nearest medical genetics service; in addition, relatives of a patient who has already been registered can request an appointment. Genetic testing for a wide range of diseases and, sometimes, genetic counseling is also offered at a few private centers.

The number of clinical geneticists that are actively working full-time in the NHS, and have mainly clinical duties, is 20 (a ratio of 2 per million). The number of those in private services will be around 8, but most practice alone, part-time only in clinical activities and with no multidisciplinary team. It is expected that, by 2019, 22 additional clinical geneticists will be trained. This medical specialty has been formally recognized at the European Union level, and a section at UEMS (European Association of Medical Specialists) is being created.

There are several cytogenetics and molecular genetics laboratories within the NHS, but clinicians may also send samples to private genetics laboratories or, whenever necessary, abroad. Laboratory geneticists have formal training within the NHS, a programme also recognized by the European Board of Medical Genetics (EBMG).

Not all medical genetics services include clinical psychologists and social workers. Only two genetic counselors are integrated in medical genetics services of the NHS and one (MP) practices at a private not-for-profit genetics center (a ratio of 0.3 per million); another one is currently working at an oncology service.

The first cytogenetics laboratory was began at an academic setting, in 1961, at Faculdade de Medicina do Porto, by Amândio S. Tavares who also provided clinical diagnosis and counseling (Saraiva et al. 2001). The first hospital medical genetics consultation was cretaed in Lisbon, in 1975, at Hospital de Santa Maria, by Heloísa Santos, followed by others.

A national programme for presymptomatic testing (PST) was implemented in the mid-nineties at five services in the country (Sequeiros 1996). This follows a protocol of genetic counseling and psychosocial evaluation and support, first for PST of Machado–Joseph disease (MJD/SCA3), later extended to Huntington disease and to familial amyloid polyneuropathy type I (FAP ATTR V30M), among other late-onset neurological diseases (LONDs). Some hereditary neurological diseases have a high frequency in Portugal: dominant ataxias have a prevalence of 5.6:100,000, Machado-Joseph disease (MJD) contributing with a nation-wide prevalence of 3.1:100,000 (though that number is 835.2 in Flores and 27.1 in São Miguel, Azorean islands, and as high as 14.4:100,000 in center mainland); recessive ataxias have a prevalence of 3.3:1000, with Friedreich accounting for 1:100,000 (Coutinho et al. 2013). FAP ATTR V30M has a prevalence of 90.2 in the region of Póvoa/Vila do Conde, just north of Porto (Sousa et al. 1995). Huntington disease has a uniform prevalence, estimated in 2–5 (Costa et al. 2003), but possibly closer to 5–10:100,000, similarly to most other European countries.

Frequency of congenital anomalies (2008–2012) was estimated at 256 per 10.000 (including fetal deaths, terminations of pregnancy due to an anomaly and newborns) by the European Surveillance of Congenital Anomalies (EUROCAT, www.eurocat-network.eu). Cystic fibrosis has an incidence of 1:4000 new births, corresponding to about 20 new cases per year (Rede de Referenciação Hospitalar de Genética Médica, www.acss.min-saude.pt).

The Need for the Recognition of Genetic Counselors in Portugal

National legislation (Law 12/2005) requires that carrier, presymptomatic and susceptibility tests, as well as prenatal and preimplantation diagnosis, must be preceded by genetic counseling and written informed consent. Presymptomatic testing for severe, incurable, late-onset diseases should be accompanied by a psychosocial evaluation of consultands and follow-up after results disclosure. The profession of genetic counselor, however, is not yet recognized and the number of clinical geneticists is clearly insufficient. The Ministry of Health required that genetic counseling be offered by a clinical geneticist or another medical doctor, according to the situation (Order n° 5411/97, 8 July). Most other physicians, however, are simply not adequately prepared (either in genetics, or in counseling principles and skills) and, quite importantly, do not have the time needed, in their daily practice. This includes (1) some prenatal diagnosis and assisted reproduction centers that do not have clinical geneticists or are not articulated with a medical genetics service; and (2) the specialized oncology institutes where familial cancers are diagnosed, treated and counseled by oncologists (at so-called “risk consultations”). Though there is no doubt that a few oncologists with some training in genetics or specialized in oncogenetics provide adequate counseling, as some obstetricians might do as well, that is not the case in general and is felt not to be the ideal situation.

We believe, however, that genetic counseling is not necessarily a medical activity, for the establishment of risks and communication of information, after a medical diagnosis is made; if and when a proper diagnosis is obtained, counseling might be done (with great advantage) by appropriately educated and trained (non MD) professionals, who would thus fill that important gap.

The experience in other countries, as the United Kingdom and the United States of America, supports that the quality of genetic counseling increases when non-physicians professionals with specific training in genetic counseling are included in the multidisciplinary team. The recommended ratio of clinical geneticists is 5:1.000,000, in addition to a corresponding proportion of 2–3 genetic counselors for each clinical geneticist (Clinical Genetics Society Workforce planning 2011; Pletcher et al. 2007). The inclusion of genetic counselors as part of a multidisciplinary team has shown to be an effective way to response to genetic counseling needs and an essential part of genetic services in Europe (Cordier et al. 2012). This need has, in fact, increased worldwide (Sahhar et al. 2013). In 2004, there was only one trained genetic counselor working in Portugal (Cordier et al. 2012).

The reasons above provided the main drive for us to create the first MSc course in the country, at the University of Porto, as the access to the profession of genetic counselor. The course has already been accredited by the EBMG.

The Professional Master Programme and the First Generation of Portuguese Genetic Counselors

Feeling this need, a senior clinical geneticist (JS) and a genetic counselor previously trained abroad (MP) decided to establish a professional training programme in Portugal which started in 2009, at the ICBAS, University of Porto, with a more psychosocial-oriented focus on genetic counseling. The MSc course comprised a 2-year full-time programme, the equivalent to 120 ECTS (European Credit Transfer and Accumulation System).

As the core competences for genetic counselors had been clearly established by the European Society of Human Genetics (Skirton et al. 2010a, b), we built a curriculum that offered robust modules and disciplines in genetic counseling, with a great diversity of subjects as learning opportunities. Each core competence corresponded to specific learning outcomes and evaluation points, given the professionalizing character of the programme. The curriculum included also periods of clinical training (both obligatory and optional) during the first year, and a second full-time year of clinical placement at a medical genetics service and a small research project. Due to the number of medical genetic services able to provide clinical supervision and practical training placements during the second year, the MSc course was opened to only six students, .

The main objectives of the programme were: (1) to provide academic and professional education for genetic counselors to work in Portugal and other countries; (2) equip students with the necessary skills to enable them for clinical practice, as well as to contribute to the development of the profession and research in genetic counseling; (3) enable the integration of the new professionals into medical genetics multidisciplinary teams; and (4) promote awareness of the psychosocial impact of human genetic technologies among patients, families, health care professionals and the wider society.

This is the sixth master course of its kind in Europe, following the European trend towards the improvement of genetic counseling services, including education and training and the official recognition of these professionals (Kääriäinen et al. 2008). This course has been accredited by the EBMG and, thus, creates the starting point for Portuguese and professionals other nationalities to be later certified at the European level (Paneque and Sequeiros 2010).

From December 2011 to January 2012, the first genetic counselors graduated from the programme. Two of the graduated counselors are employed in medical genetics services (one of them in Brazil) and one was integrated at an oncology service; the other three remain as nurses or clinical psychologists, at their previous services, but now better educated in genetics, equipped with counseling skills and better prepared to deal with communication of information about genetic diseases, and to integrate medical genetics services that may recognize the need and their specialized training.

Current Achievements and Challenges

In addition to the graduation of new genetic counselors, our MSc course produced a growing body of research on genetic counseling. Integrated research projects were included in the curriculum and led to international publications (Romariz et al. 2012; Nunes et al. 2012; Leandro et al. 2014; Rodrigues et al. 2013). Family and psychosocial-oriented issues in genetic counseling received increased attention in the national context (Mendes, et al. 2010, 2012). Evidence has been collected confirming the influence of the counselor’s skills and the quality of the relationship between consultand and counselor, based on the perceived satisfaction of consultands (Paneque et al. 2012; Guimarães et al. 2013) and professionals views (Paneque et al. 2014a). These studies emphasize the relevance of genetic counseling for enhancing consultand’s ability to make informed decisions while managing their health and at-risk status.

This research has also highlighted some constraints in the delivery of genetic counseling services in Portugal. Heterogeneous standards of practice, diversity and poor coordination between national teams, as well as limited human resources, were all identified as obstacles to an effective practice (Paneque et al. 2014a). Other needs identified were the continuous training in genetic counseling for all health care professionals and the lack of effective tools to enable practitioners to assess quality of their services and subsequently improve their practice and patient care (Paneque et al. 2014a). This is in accordance with current efforts to set up quality standard indicators and harmonized assessment of genetic counseling practice at European level, in a Delphi study with experts of genetics services (Paneque et al. 2014b). This can stimulate further research and set the stage for changes in practice, by affirming genetic counseling as an integral component of genetic healthcare in Portugal.

Nevertheless, amongst genetics healthcare teams there is a mixed feeling of hope and pessimism regarding the current organization of services, its delivery, and the prospects of integrating genetic counselors. Healthcare genetic professionals involved in two qualitative studies acknowledged the enhanced quality of the counseling practice (Mendes et al. 2013; Paneque et al. 2014a). On the other hand, there are considerable constraints, which act as barriers to quality of care, such as the lack of multidisciplinary teams in all medical genetics services, as a trained workforce integrating clinical geneticists, genetic counselors, nurses, psychologists and social workers, among other healthcare professionals (Mendes et al. 2013).

Although the studies published have not yet resulted in any structural changes within Portugal’s healthcare system or the integration of genetic counselors into hospital genetics services, there is a growing awareness for the need of continuing education on genetic counseling competences for clinical geneticists and other healthcare professionals. There is also agreement on the need to establish a structured supervision to improve counseling skills (Paneque et al. 2014a). The need for genetics education and counseling is well exemplified by the shortfalls in care for patients with hereditary haemochromatosis (Teixeira et al. 2014). Lack of family-centered counseling and screening may be compromising the efficacy of disease prevention, in terms of early diagnosis and treatment: in spite of an increasing number of requests for genetic diagnosis of this disease, there is no corresponding increase in requests for counseling and predictive testing (Leandro et al. 2014; Teixeira et al. 2014).

There are still some unanswered questions that are key to the establishment of genetic counseling in our country, namely: (1) how (and through what channels and mediators) may public understanding about genetic counseling and the role of genetic counselors be promoted; (2) what are the relevant cultural needs of the Portuguese population to inform the development of psychosocial models of counseling; (3) how (and involving which healthcare professionals) can educational and psychosocial assessment and intervention programmes for specific conditions be better implemented; (4) how can the key aspects of the genetic counseling process, already identified, be facilitated; or (5) which evidence-based research should be promoted in order to inform safer genetics healthcare provision.

The ability to influence new recommendations and policies for sound clinical and ethical practice in the medical genetic services in Portugal is a great current challenge for genetic counseling in Portugal. An important step to increase the visibility and promote the profession of genetic counselors was the creation of the National Association of Genetic Counselors (www.appacgen.org). Undoubtedly, the most relevant challenge needed is the recognition of genetic counselors as healthcare professionals and their full integration in the NHS. Though this way is being paved at the European Union level, limited funding and stiff institutional structures and rigid minds are, among others, important barriers to the official recognition and integration of genetic counselors in the Portuguese and other Member States healthcare systems.

The perception of medical genetics is as a highly specialized branch of medicine, more linked to high-tech laboratory-based work, with a focus away from clinical care and the standard doctor-patient relationship (Paneque et al. 2014a) still prevails among other professionals and the society at large. Building an effective partnership among professional groups, such as clinical geneticists, laboratory geneticists, genetic nurses, genetic counselors and clinical psychologists, may lend support to the recognition of the field as being entirely patient focused. Integration of newly accredited genetic counselors into public services may help addressing these challenges.

We believe there is not only a need for adequately trained genetic counselors, but also for continuing education of all other genetic and non-genetic healthcare professionals that may provide counseling, so that our patients receive the best possible care and together we contribute to a more effective delivery of genetic services.

Conclusions

In this short report we have provided a description of the Portuguese situation on the provision of genetic counseling and how genetic counselors are being trained for a new healthcare profession. Genetic counseling needs have grown, the benefits of having specifically trained non-medical professionals integrating the multidisciplinary teams of medical genetics services are increasingly being felt and the official recognition of this new profession is emerging in the European Union and its Member States. This requires thorough consideration of genetic health care and effective short-term policy action, if the fundamental goals of increasing quality of genetic services and ensuring the provision of safe and appropriate genetic counseling are to be achieved in Portugal, as in other countries.