16 years ago, Jacinto Navarro's ankle failed. What could have remained a stumble, became more. His muscles were responding worse and worse. In his pilgrimage to medical specialists, none of them could figure out what was happening to him. Until a few months ago: his family went to private healthcare for genetic tests and to a specialist who diagnosed him with a mutation in the MAN2C1 gene, a rare disease that perhaps could have been detected and treated much earlier if Spain had recognized the specialty of clinical genetics. .
In 2018, when Greece recognized this multidisciplinary specialty (doctors, biologists, chemists and pharmacists work there), Spain became the only EU country in which it is not an official discipline, such as traumatology, gynecology or internal medicine. A plataform Made up of professionals and patients, they have been demanding its creation since January, which they believe would serve to avoid (or at least minimize) cases like Jacinto's, and would serve to provide more personalized and homogeneous care throughout the country.
Cristina González, spokesperson for the platform and head of the Genetics department at the Infanta Sofía University Hospital in Madrid, explains that they have been asking for it for more than three decades. “But for some time now, everything is changing. We live in a very important technological revolution that is increasing diagnostic capacity. Right now, it is estimated that patients with genetic diseases take an average of six years to be diagnosed. Recognition would result, on the one hand, in increasing the speed of diagnosis and, on the other, in equating services, because having a genetic disease in Madrid is not the same as in the town of Burgos,” she explains.
Large hospitals do usually have a genetics department, but since it is not a specialty as such, there is no regulated training for professionals, who have to seek learning on their own and often go to other countries to do so. . Ismael Ejarque, for example, studied the specialty in Italy, but since it is not established in public healthcare, he only practices one afternoon a week in the private sector, while his full day is dedicated to family medicine (his specialty in Spain ) in a health center in Almàssera (Valencia).
Since it is not recognized, the services offered by genetics departments are not usually included in the portfolio of the National Health System. It depends a lot on the professionals that each patient meets if they give a good response to their illness, if it takes longer, or even if they have to go private. “People come to the clinic who have not found their diagnosis in the public, but the ideal would be for it to also be there, free for everyone,” Ejarque reflects.
In the field of rare diseases there is a lot of awareness about this problem. 80% have a genetic basis and patients usually have a tortuous path to find the specialist who makes the correct diagnosis. They wait an average of four years to obtain one and, in 20% of cases, 10 or more years pass, according to the Spanish Federation of Rare Diseases (Feder). This also delays treatments and worsens their quality of life.
Carmen Sáez, Jacinto's wife and founder of the Objective Diagnosis association, explains that since 2019 they have been doing blood tests for her husband for a genetic test that never arrived and that they could not afford. “Then the price was about 6,000 euros, but it has been going down and now they make it for about 1,000,” she says. The doctor who discovered his illness recommended mannose, a type of sugar that has greatly improved his lung capacity. But he has practically lost all mobility and cannot work. Surely if he had been treated earlier today he would be better,” she laments.
The lack of the specialty also results in an extra cost for the system. Macarena Alvarado, from the Genetic Specialty Platform, says that, in her case, back pain took her to the family doctor, who “didn't know what to do.” “In the end some cysts (called Tarlov cysts) appeared in an MRI of I don't know how many they did,” she says. “We do not expect doctors to know about the 8,000 rare diseases that exist, that is impossible, but we do want them to be able to refer specialists who know how to study them,” she adds.
Rare and non-rare diseases
Beyond rare diseases, clinical genetics can have a positive impact “in all areas of medicine,” according to González. “When sudden deaths occur, whether in infants or adults, they are usually familial heart diseases, which if studied and treated properly could be prevented. The same thing happens in neurodegenerative diseases, such as Parkinson's or Alzheimer's,” he says.
Encarna Guillén, president of the Spanish Human Genetics Association, gives other examples: “There are practical cases, such as the early diagnosis of metabolic diseases in newborns, where the lack of a network of professionals specialized in genetics in the SNS (National Health System) ) makes it difficult to access these services, which can lead to significant intellectual disabilities if not detected in time.” She also mentions the importance of genetics during pregnancy, where “the detection of genetic abnormalities can influence the decision to continue or not with the pregnancy.” And she highlights that “in many cancer treatments, precise genetic profiles are required to tailor therapy,” which again highlights the need for specialization in genetics to ensure optimal treatment.
“It is imperative that Spain advances in the regulation and specialization in medical genetics to guarantee equitable access to services and to advance in the application of personalized medicine for the benefit of all patients,” says Guillén.
The creation of the specialty has been on the table of the Ministry of Health several times. A Royal Decree approved it in 2014, but two years later it was repealed and it was never implemented. In the last legislature it was taken up again, to regulate it along with others, such as child and adolescent psychiatry or emergency medicine. The first was prioritized within the framework of a plan to promote mental health care, and the second already has its Royal Decree ready. Clinical genetics is left behind.
According to a spokesperson for the Ministry of Health, the matter has been taken up again this term and a working group is preparing the report to be able to debate it with the autonomous communities. Then it would be raised to the Human Resources Commission and, if there is consensus, the preparation of the new Royal Decree for the creation of the specialty would begin, which would become one more within the training of residents (doctors, biologists, chemists or pharmacists). , depending on the case).
In short, the creation of the specialty of clinical genetics, despite the intentions, is by no means imminent. Those on the platform look with hope to some words spoken this month by Queen Letizia, within the framework of the day of rare diseases, which they believe can give a boost to their demands: “Clinical genetics is core. If we do not identify the causes of rare diseases, we will not be able to prevent them.”
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