Prospects and challenges for the genetic counsellor profession in the German-speaking countries: report of a workshop

History of the genetic counselling profession and international status

The GC profession was established in the USA and dates back to 1947, when Sheldon Reed first defined genetic counselling ‘as a kind of genetic social work’ acknowledging the important psychosocial aspects of the role [6]. The first master-level graduate programme in genetic counselling was introduced at Sarah Lawrence College in New York in 1969; Canada followed with its first educational programme in 1980. To date about 50 university programmes are offered in North America. In 1973 and 1979, the US National Society of Genetic Counselors (NSGC) and the Canadian Association of Genetic Counsellors (CAGC) were founded [4], [5]. In Europe, the first graduate programme for genetic counselling was established at Manchester University in 1992 [7]. In the UK early GC roles developed from nursing and research, when individuals took on long-term relationships with families affected by genetic conditions to provide a continuing care setting. Today, the GC workforce with more than 200 registered GCs is working closely with medical geneticists and is a well-integrated part of the interprofessional genetics teams in the UK (Angus Clarke, Cardiff University, workshop report). In the last two decades the GC profession expanded to a total of 19 European states (Figure 2).

In most countries the GC profession developed primarily through GCs trained abroad or with other backgrounds like research or nursing, who were trained and employed in individual medical genetics centres. An exception is France, where the government perceived a need of non-physician professionals in medical genetics. This led to the government-induced establishment of a GC training programme at Aix-Marseille II University in 2004 and resulted in a strong legal basis from the onset of the profession [8]. A 2016 survey with 126 professionals working in genetics services showed that French GCs manage a wide range of cases independently but under the responsibility of medical geneticists. After more than a decade of practice the GC profession is well accepted by medical geneticists, and this mutual trust was reported to have been the crucial factor of success [9], [10]. The French part of Switzerland followed and today has a total of 11 GCs. The Association Suisse des Conseillers en Génétique (ASCG) was founded in 2016. Switzerland has recently revised its law on genetic investigations of humans (Bundesgesetz über genetische Untersuchungen beim Menschen [GUMG]) and states that genetic counselling has to be performed by a competent person (‘fachkundige Person’) [11]. The canton Vaud has established the first official regulation of GCs, and it is hoped that there will be an expansion of the profession to all Swiss cantons. Professional recognition and full acceptance of GC competences in Switzerland are major goals of the ASCG (Viviane Cina, Lausanne, Centre Hospitalier Universitaire Vaudois, workshop report).

In recent years the German Society for Human Genetics (GfH) has raised the option of introducing non-physician GCs also for Germany [12], [13]. In its third report, for the years 2016–2018, the German Commission on Genetic Diagnostics (Gendiagnostik Kommission [GEKO]) highlights the need to expand the currently limited capacities for genetic counselling in Germany. The introduction of non-physician GCs is explicitly proposed [14]. In 2019, the GfH and the Berufsverband der Deutschen Humangenetiker e. V. (BVDH) have submitted a request to the German Ministry of Health in which they propose the introduction of GCs to build a sustainable genetics work force at times of rising demand [15].

Scope of practice, training and regulation of genetic counsellors

The scope of practice and the institutional framework for GCs differ between countries worldwide [4], [16], [17]. At the workshop, Kelly Ormond (Stanford University) presented results from a large-scale international survey on similarities and differences of GC practice across countries. Textbox 1 lists the most frequently reported core tasks by international respondents. More medical activities (e. g. performing dysmorphology exams, taking physical measurements, determining the presence of birth defects, ordering tests) were reported infrequently by GCs globally.

With the rapid development of genomic technologies, the traditional GC roles are changing. In the UK, with increasing demands on GC time, more attention is now paid to providing and explaining genetic information and less to the traditional counselling and care aspects of the GC profession (Angus Clarke, Cardiff University, workshop report). Nevertheless, a major focus of the GC work remains on the support of couples and families including the explanation of highly distressing, often uncertain genetic test results, support in the decision-making process and the discussion on how genetic tests can affect whole families. GCs also provide support after pregnancy loss and assistance in new pregnancies. Tasks that are strictly restricted to medical geneticists include diagnostic algorithms of genetic conditions, the physical examination, the evaluation of children with developmental delay and medical decisions on treatment (Dagmar Tapon, Imperial College London, workshop report).

With their combined training in genetics and psychosocial communication skills, GCs add to the quality of genetic services. In an era increasingly dominated by data-driven analyses and algorithmic decision-making, a profession that focuses on the counselling relationship with patients plays an essential role [18]. Studies provide evidence that active patient engagement can lead to increased compliance as patients are more likely to engage in health-promoting behaviour [19], [20]. Genetic counselling outcome studies have shown that genetic counselling by GCs leads to patient empowerment through increased knowledge, perceived personal control, positive health behaviours, improved risk perception accuracy and patient satisfaction. This is associated with a reduction of anxiety, cancer-related worry and decisional conflict [21], [22], [23]. GCs contribute to case management, fostering a person-centred approach and continuous support of whole families. They have been reported to be more accessible than medical doctors [18], [24].

Figure 3

Major educational goals of the MSc graduate programme in Genetic and Genomic Counselling at the Medical University of Innsbruck.

In the last decade, Europe has seen major efforts to harmonize GC education, professional practice and registration in order to reach a broader acceptance and acknowledgement of GCs. The European Board of Medical Genetics (EBMG) developed a regulatory framework with competencies and standards for GCs practicing in Europe [25], [26]. Since 2013, the EBMG offers graduates with an accredited MSc degree and subsequent two-year professional experience in a medical genetics institution the option to register as a European certified GC (Christophe Cordier, Synlab Suisse, Secretary General EBMG, workshop report). This registration ensures Europe-wide professional recognition, international reciprocity of training and thus the opportunity to practice internationally [27].

The MSc graduate programme in Genetic and Genomic Counselling at the Medical University of Innsbruck is a five-semester part-time programme. It follows the EBMG core curriculum and consists of face-to-face and online teaching blocks and a 15-week practical placement at a medical genetics centre. The major educational goals are depicted in Figure 3. The curriculum focuses on (i) evidence-based genetics knowledge, (ii) communication and counselling skills and (iii) practical experience as key qualifications.

Prerequisite for enrolment is the successful completion of a relevant bachelor’s degree in a related biomedical science (e. g. biology, genetics), life science (e. g. psychology, healthcare, midwifery) or social science (e. g. communication science); work experience in the field of medical genetics and/or caretaking experience is desired. The application process includes a letter of motivation, a curriculum vitae, proficiency in the German and English Languages and an interview with the programme team. A new student cohort will be accepted in autumn 2021 (relevant information is available at www.gencouns.at).

Results of the workshop discussions

On Day 2 of the workshop, participants were asked to join breakout groups with colleagues from different countries. Each group included representatives from all three German-speaking countries and discussed four topics that were introduced as questions. The results were subsequently presented and discussed in the virtual plenum. The conclusions of this process are summarized as follows:

1. Which professional role should GCs play in Germany, Austria and German-speaking Switzerland? Which tasks can they take on, which tasks require medical specialist training?

1. How can one create acceptance for the introduction of GCs in the German-speaking countries? What role does the job title play?

• What role does the professional title play?

1. Which formal requirements are necessary or desirable? Is it currently possible to employ GCs under existing legal regulations in Germany, Austria and Switzerland?

According to the German Gendiagnostikgesetz (GenDG) it is possible to include non-physician experts for advice with the consent of the person concerned (§ 10 (3) GenDG). Similarly, the Austrian Gentechnikgesetz (GTG) requires counselling by a genetically trained medical specialist but in relevant circumstances additional non-medical counselling with a psychologist/psychotherapist or social worker must be offered (§ 69 (4) GTG) [32]. This law was implemented without GCs in mind but makes it clear that it is not only possible but sometimes advisable to include other professionals in genetic consultations. The corresponding Swiss Bundesgesetz über genetische Untersuchungen beim Menschen (GUMG) in its 2018 revision (the law has been passed but not yet implemented) goes further by stipulating that a physician who orders a genetic analysis must offer or organize genetic counselling, but this can be carried out by a competent person (‘fachkundige Person’) (§ 21 (2) GUMG) [11].

There was agreement among the workshop participants that the process of genetic counselling must be under the supervision of a board certified and experienced geneticist who is also responsible for ordering genetic analyses and obtaining informed consent. Nevertheless, even under the current restrictive laws in Germany and Austria it is thought to be legally possible to involve qualified GCs in the counselling process under the oversight of specialized medical geneticists. The revised Swiss law already allows genetic counselling to be performed by qualified GCs as a ‘competent person’. The workshop participants agreed that full training at MSc level and subsequent work experience as stipulated by the EBMG should be the minimum requirement for professionals who are directly involved with patients in the genetic counselling process. Students entering the MSc programme should have prior experience in dealing with ‘vulnerable people’ and/or work experience in a genetics centre. Full acceptance as a licenced healthcare profession (Gesundheitsberuf) should be aimed for in all countries of the DACH region.

1. Which remuneration concepts are suitable for GCs in relation to other non-medical professions?

Several participating medical geneticists from Germany work in community-based practices not linked to a (university) hospital. As genetic counselling is a genuine outpatient activity, a crucial question concerns the remuneration of GC activities by health/social security services and insurance companies. The introduction of adequate refund numbers for billing, both in institutional and private settings, is a challenge for the future.