Clinical genetics: this time yes?

Royal Decree 589/2022, of July 19, which regulates “the transversal training of specialties in Health Sciences, the procedure and criteria for the proposal of a new title of specialist in Health Sciences or diploma of specific training area, and the review of those established, and the access and training of the specific training areas; and the rules applicable to the annual tests of access to training places in specialties in Health Sciences are established” , is already published in the BOE. Open the application process for a new specialty “by one or several national scientific societies, validly constituted in relation to the corresponding area of ​​specialization in Health Sciences, that accredit the representation of at least 70% of the professionals in that area or by the Commission of Human Resources of the National Health System”.

This is the opportunity that professionals dedicated to clinical genetics were waiting for as rain in May to put an end to decades of demanding that Spain definitively cease to be the only European country without official recognition of this specialty.

Hopefully the process do not end in a new disappointment: Royal Decree 639/2014 on core subjects, which approved clinical genetics eight years ago, was annulled in 2016 by the Supreme Court due to a formal defect. And in 2017 the Interterritorial Council of the National Health System (CISNS) gave the go-ahead for the specialty to be approved by an independent decree and, since then, nothing.

In May of last year, the president of the European Society for Human Genetics, Alexandre Reymond, sent him a letter to the Minister of Health, Carolina Darias, supporting “the effort of the Spanish clinical genetics community to establish a specialty”. He reminded him that “not only is this specialty already established in almost all European countries (adopted by 41 states, for example, Portugal, France, Germany, the United Kingdom, the Netherlands, Sweden, Italy and Finland), but, under the Under the auspices of the Professional Qualifications Directive of the European Commission (EC) and the efforts of our society, a pan-European recognition of such specialists was established”. And he told her that “at a time when genetics is omnipresent in society and when the era of personalized medicine is emerging, it is important that one of the largest European countries accept this challenge of modernity.”

It contrasts that this specialty has not yet been recognized in our country with access to all types of tests, consultation and genetic counseling has been in the SNS service portfolio for years and that the role of genetics is essential for the advance, already underway, of precision medicine.

The specialty of clinical genetics, despite not being recognized, exists and has been growing and evolving in each hospital as well as each one has been able, which is very likely to have contributed to generating an unacceptable inequality of access to a service that is essential in the case of serious oncological, family and rare pathologies.

And we must remember that the Government has the IMPaCT, Precision Medicine Infrastructure associated with Science and Technology, with three programs: Predictive Medicine, Data Science and Genomic Medicine.

When the specialty is approved, hopefully, its national commission will be created, which will establish the requirements to obtain the official title, will evaluate the needs of specialists and will define the accreditation conditions of the teaching units. With this, from the outset, it will begin to put order (mainly information) regarding the techniques that are being used and will put an end to the fact that everyone knows regarding genetics and can get involved and do what they consider in this regard.

Doubt arises regarding what recognition process will there be for professionals who are already dedicated to clinical genetics.

But step by step: first, legally recognize the specialty. And from there, move steadily towards the generalization of quality personalized medicinemore precise and efficient in the diagnosis, treatment and monitoring of diseases.

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