The fifteenth meeting of minority diseases.
Los Internal doctors Remember that 80 % of rare diseases result from mutations in one or more gene and that the basis of diagnosis stabilizes, in most cases, in genetic studies Thus, They ask genetic studies that five or ten years are not conclusive because they can now result in positive results that will be resumed five or ten years ago It works to diagnose it, at the fifteenth meeting of minority diseases – the sixth meeting of minority diseases for residents, Spanish Society for Internal Medicine (half). The meeting was opened before Montserrats VicinoHalf, L. Jorge Francisco Gomez Cerezo, coordinator of a minority group of diseases in halfand Maria Jose Forener Jenner, President of the Society for the Internal Medicine in the Valnaian Society (SMICV)It was held from April 24 to 26 in Alyante with the participation of assistance doctors throughout the lands of the state, doctors and residents, who gave priority to study and discuss clinical cases as a major training and modernization tool.
“The ability of the accuracy of the current genetic studies grows in a roundabout The genetic studies that were excluded in previous years must be resumed, as they may be useful now to diagnose some minority diseases. “ I mentioned Alvaro HermidaThe follower Csur from the University Hospital Complex in Santiago And in “the meeting with the expert. The genetic tools: what the esoteric specialist should know.”
The meeting also included a round table on the role of genetic therapy in Rare diseases“An important issue in which the subconscious should be formed: the main aspects of genetics such as genetic tests, how to interpret it or the type of information that they should be enlightened,” as he indicates. Jorge Francisco Gomez Serieso, Coordinator of the GTM Diseases (GTEM).
“Let’s not forget that Each of the diagnosed rare disease cases, relatives affected by the family can be discovered depending on the nature of the disease and the form of inheritance. In some cases, there are up to five relatives on average with the same boom and different degrees of influence, some of them without symptoms, “says Hermida.
Current and future tools
Las The main tools for the patient’s genetic diagnosis with a doubt about a rare disease More employed so far, due to its speed and cost/interest relationship is Genetics. These include A series of genes that can be involved in the origin of symptoms or organic changeAlthough they have to update constantly, as the new mutations and new genes participating in the origin of these diseases are known. So, More and more is the full Exom sequence, which provides more informationAlthough it consumes more time in the interpretation and has a greater economic cost; In more complicated cases, to more complicated tools such as the long readings sequence (“Long Reading”) for some genes, the sequence of RNA (text) or the complete genome sequence of the patient (currently currently in the field of clinical research).
“Genetic databases are a very brave proposal in the diagnosis of rare diseases, as it helps in determining new connections between diseases and genes. Modern examples include the “100,000 genes” project in UKWhich managed to determine the important connections between genes and variables in 165 well -known cases and 141 newly new. Dr. Hermida says that the application of artificial intelligence tools and the analysis of “huge data” will remain more useful for obtaining new diagnoses.
“Just like genetic diagnosis and careful medicine is already a reality in the disciplines such as oncology Q to Blood diseasesCertainly The internal doctor who leads attention will lead to rare diseases to build care and researcher on genetic tools. This typical shift began in the reference units of these diseases, which is coordinated by the interior specialist in the axis of multidisciplinary attention throughout the national region and will be extended to other clinical services.
The need for training and other barriers
One of the main barriers that continue in this field Lack of medical genetics between clinical specialists and internal medicine residentsthen Mist They need greater integration in genetics during residence, while exercise specialists need more approach and interaction with laboratory and genetics. The creation of medical genetics and laboratory clinical genetics, healthy health in Spanish health, with a multidisciplinary approach, will improve care for patients with rare diseases.
“It is necessary for the esoteric world, a mandatory hero in caring for patients with rare diseases, will receive adequate training in medical genetics.Hermida says: “In the laboratory test fan and the interpretation of results, especially genetic studies and the acquisition of competencies in the Genetic Council,” Hermida says.
Another barrier leads to diagnostic delay The unequal endowment of resources. “Improving access to diagnostic tests and the genetic council was one of the main lines in the strategic EERRS strategic plan approved in June 2009, but these goals have not yet been evaluated, etc. The unequal endowment of genetic services available in the national region has been reported, which is transcendent to reduce diagnostic delay, which is common and impressive in these diseases. Hermida reports.
Other developments from the meeting
“Currently, there is a wide range of minorities or low spread diseases, more than 7000, and because of its wide effect on the patient’s body” touches “all aspects of doctoral work in internal medicine” Jorge Gomez Cerezo, coordinator of the Minority Diseases Group, explains.
Among the distinguished issues at the meeting, Gomez Serizo highlights Grand developments in rare diseases with nervous effect, such as indulging and nieman, Choose type C. With new treatments that will significantly change the course of these diseases.
Other distinguished developments that I left at the meeting are the immune density of treatments, which cause an immune response and any sYou must know the real effect better and in the course of the disease; And the decrease in the spread of inflammatory diseases, such as Castami diseaseWhich is also within the field of effect of the effect of minority diseases in half.
One of the aspects in which a group of minority diseases is in semi -business Control of patients with rare diseases in their transmission in adulthood. Currently, in almost all hospitals, we have already we have two -dealing with these diseases, alone or not. now, The next step that we want to take is that the internal specialist plays a role in the units“If there is, or in childhood transfer operations to adulthood, a link with the patient who facilitates this transit is created,” says Jorge Gort Gomez Serizo.
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