1. The Role of Genetic Counselling for Rare Diseases

1. The Role of Genetic Counselling for Rare Diseases

Rare Diseases (RD) are defined as such by their low prevalence although their frequency changes depending on the continent; for instance, the European definition is that affecting less than 1/2000 individuals. It is mainly their uncommonness that makes RD so difficult to diagnose producing a diagnostic delay of more than 5 years ^[1][4]. 

The role of a genetic counsellor involves many tasks (core competencies) that are expected to accomplish in order to ensure an individual has enough personalized information and support to be able to deal not only with their genetic disease as well as to make informed decisions^[2][3][4] [31,32,33]. Diagnosis of RD is not the end of the journey but rather the beginning. Once a genetic diagnosis is achieved, patients need support to understand not only the implications of this verdict and the real meaning of carrying a genetic abnormality but also, and sometimes more importantly, to grief and to adapt to all psychosocial aspects involved^[5][6][7] [9,12,13]. Therefore, from the very first visit to a specialist, patients should receive support from a genetic counsellor (in coordination with multidisciplinary genetics units). Furthermore, genetics is shared among the family having implications for the closer relatives accounting for their risk of carrying a disease-causing variant ^[8][14]. Inheritance of these variants increases the risk of passing the disease to the next generation, and thus, some relatives who might be carriers will need support, help and guidance to manage and plan a future pregnancy trying to reduce risks of having an affected child^[9][10] [18,19].

It is worth mentioning at this point some studies. First, one evaluating the economic impact of using genomic sequencing to diagnose RD, that highlighted that parents find genetic counsellors a valuable resource facilitating complex decisions [11]. Some others highlight the cost-effectiveness of providing Genetic Counselling ^[12][13][35,36] and finally several studies show the harm produced when no appropriate Genetic Counselling is provided to RD patients, impacting at many levels^[14] [37]. For example, living in a different region than the patient testing positive might make family screening of relatives difficult and unequal access to genetics services will also complicate cascade testing^[7][8][15] [13,14,20].

2. Genetic Services (Including Genetic Counselling) for Rare Diseases in Spain

2. Genetic Services (Including Genetic Counselling) for Rare Diseases in Spain

Genetic services in Spain are provided by professionals who are not usually specifically trained in that field, what impacts negatively in the management of patients with RD and their families. Oncology and Reproductive Medicine (including prenatal screening and neonatal care) are two clinical areas historically related to Genetic Counselling, but this is not the case for RD. These two facts, that complicate patient access to Genetic Counselling Services, are due in part to the lack of recognition of Clinical Genetics as a healthcare specialty.

In contrast with the lack of specific Genetic Counselling Services for RD in Spain, highly specialized multidisciplinary units and/or centres (CSUR, Reference Centres, Services and Units) for specific diseases (some of them of low prevalence) are being created since 2008. One of the main objectives of these units is not necessarily medical assistance but to become a reference contact for disease management strategies definition as well as support for both, patients and clinicians dealing with a particular disease ^[16][50]. These centres are not a genetic service itself, but they agglutinate multidisciplinary groups of clinical specialists in which genetic counsellors are not usually incorporated.

Contrarily to the difficulties encountered for the recognition of the profession, Spain has made a significant effort to improve RD management; in fact, collaborations between research centres and hospitals have been created for neuromuscular^[17][18] [54,55], retinal^[19][20]  [56,57] and cardiovascular^[21] [58] rare diseases, although this effort should be extended to, ideally, all RD.

3. Current Needs and Future Directions of Genetic Counselling for Rare Diseases

3. Current Needs and Future Directions of Genetic Counselling for Rare Diseases

The so-called “diagnostic odyssey” is the process during which most patients with a rare disease and their families try to find the cause, name, prognostic and treatment of their disease^[15][22] [20,59]. The future of RD envisions a faster diagnosis thanks to high-throughput Next Generation Sequencing (NGS) technologies as well as artificial intelligence ^[23][60] with the intention of helping clinicians to shorten the time to diagnosis. However, it is important to recognise diagnostic limitations for each technology; and it is at this point at which genetic (or genomic) counsellors provide an added value. Furthermore, the fact that some patients have multiple disease-causing variants (polygenic diseases) and also several genetic diagnoses complicates interpretation of genetic data, thus, requiring expert geneticists (all three specialties: clinical geneticists, genetic counsellors and clinical laboratory geneticists) to provide enough information and support to patients^[24][25] [34,70].

Shortening the diagnostic process and providing adequate management to patients with a rare disease in Spain necessarily implies a series of changes both in the Spanish National Health System (SNS) and in the Spanish society. In fact, the lack of recognition of genetic counsellors to support patients as well as the lack of knowledge about RD by the clinicians taking care of them ^[26][76] is translated into inappropriate genetic tests, lengthening the diagnostic process, increasing clinical expenses, and adding anxiety to patients.

4. Conclusions

4. Conclusions

The current situation of Genetic Counselling for RD in Spain is jeopardised by the lack of recognition of Clinical Genetics as a healthcare specialty within the SNS. This must include three professional profiles: clinical genetics, genetic counselling, and clinical laboratory genetics. Currently, there are more than 3 million people in Spain affected by a rare disease and the implementation of next generation sequencing technologies is improving diagnostic yield. However, it is necessary to create multidisciplinary teams (which include specialists providing Genetic Counselling) capable of analysing and interpreting this information, as well as providing information and support and accompanying families and patients with RD throughout this uncertain and unpredictable journey.

Furthermore, actualization of the current registries at the national level is needed to develop clinical guidelines and appropriate action strategies allowing better coordination between different centres to make society/professionals aware of the existence of CSURs and to create new ones capable of correctly managing patients regardless of their residence location.

Finally, updated and continuous training of health professionals on the new advances for diagnosis and treatment of RD will be necessary to guarantee equal access of patients to quality health services, thus improving the management of their disease and consequently, improving their quality of life.