Establishment of expert centers, diagnostics in genetic laboratories, drug access, registration, a rare disease patient’s passport and a private information platform – six such areas of work included in the rare diseases plan approved by the Cabinet on Tuesday.
According to both doctors and patients, this is a holiday. Because although in 2009 the Council of the European Union recommended that member states put in place such plans by 2013, only yesterday the Minister of Health, Adam Nidzelsky, was able to announce his readiness, and The government has adopted a very specific plan for the nearly 2.5 million Poles suffering from rare diseases. Experts note that it contains the most important elements that improve care. However, they do suggest that an adequate number of centers that perform the tests should be established, and training for family physicians and specialists should be prepared. It is also important that expert centers not focus on child care. Many adults are actually rare among those who suffer from the diseases. Perhaps these issues will be clarified in the final version of the plan. Yesterday was not announced and you can only count on it The April 27 project, which was developed after prior consultation.
Genetic research is not only in expert centers
According to the plan, the Centers of Experts for Rare Diseases (OECR) will finally be established in Poland. More than 2.5 million PLN have been allocated for this purpose. The first can be selected by the end of December 2021. The Minister of Health may recognize 21 clinical centers belonging to the European Rare Diseases Reference Networks. For example, the network includes the Expert Center for Rare Liver Diseases at the Clinical Hospital at ul. Banach in Warsaw.
As announced by Adam Nidzelsky, Minister of Health, new centers will be set up systematically. They will be selected through competitions that will end by June 2022. OECRs must be competent to perform genetic and non-genetic diagnoses for the rare diseases they deal with. According to the second point of the plan, i.e. improving diagnostics, by the end of March 2022, the Ministry of Health will determine the number of Poles that will be covered with such tests and draw up a list of services that will eventually be financed by the National Health Fund. Up to PLN 75 million has been planned for this, out of PLN 128 million allocated for the implementation of the plan. As a result, the so-called diagnostic epic, that is, a referral from doctor to doctor, from examination to examination.
– As long as the money is not refunded, patients with rare diseases are doomed to a diagnostic journey, because few patients can afford the private genetic tests. – says Olga Haus, president of the Polish Society of Human Genetics. Cytogenetic and molecular costs from 2000. PLN up to 5.5 thousand. zloty. – From the point of view of public medical funds, it is not very expensive, but from the point of view of patients it is very expensive. Those who can afford it do so themselves, Olga House says, and those who can’t afford it wait years for a proper diagnosis. Anna Latos Bielska, Head of Medical Genetics and its Department in Poznan, adds that So improving prognosis, especially genetic diagnosis, is the most important point of the plan.
This is where a problem arises, also highlighted by Thomas Latos, Law and Justice MP and chair of the Parliamentary Health Committee at a meeting dedicated to rare diseases. Well, the diagnosis can only be done in expert centers. As MP Latos said, the diagnosis should initially be carried out in only one location, and then in five locations in Poland. In his opinion, this is a false assumption, because the positions will be blocked. – Carrying out treatment in rare diseases is one thing and another to make a proper diagnosis. I’m totally convinced of that If we limit ourselves too much to the number of centers, we will not achieve this effect at this pointIt’s for her that you (Minister Swamir Jadomsky, responsible for the Rare Disease Plan – editorial note) and the team worked hard – Representative Latos explained. Although it does not follow the plan, Swimmer Jadomsky convinced him that the goal was to shorten the time needed to obtain a proper diagnosis of a rare disease by cooperating with the reference center with medical genetics centers or genetic clinics and offering reimbursed tests. . – We assume that they will be important in the diagnostic process and there will be a place not only for reference centers, but also for clinics and professional genetic laboratories – he emphasized.
Search in accredited genetic clinics and laboratories
This is confirmed by Anna Latos Bilanska Geneticists can identify rare diseases in gene clinics all over Poland, and after referral, after a rare disease is diagnosed, they will of course refer you to the appropriate expert center To care for the patient for life. Olga House adds that The introduction of modern diagnoses as quickly as possible and reimbursed by the National Health Fund will allow patients to achieve a fast diagnostic path and provide multiple visits to health care unitsExorbitant costs, which are completely unnecessary in the case of such diagnoses, will also be saved by the health service.
– If we limit ourselves to expert centers, they will become clogged and patients will wait years for a proper diagnosis – says Olga House. Diagnostics must be in several reference centers, such as PTGC certification. All this cannot be under the supervision of expert centers, because it will stifle, and in addition, expert centers will deal with individual diseases and will focus and learn more on individual diseases, and only in a broader aspect also on others. The bottom centers diagnose everything. Of course, when it comes to a test such as whole genome testing, the expert center or – whichever is better – individual regional counselors can decide if it can be ordered for a particular patient, but in general it should be a clinical geneticist who has the right to do So – explains Haus.
The plan states that the OECR should be competent to perform genetic diagnosis of the rare diseases they deal with. Regardless of their expert competencies in particular areas of medicine, they should establish a collaboration with a clinical or medical genetics center, which will support the selection of the appropriate type of genetic testing.
Necessary training for doctors and cooperation with expert centers
Marcelina Zawisa, a member of parliament from the left, points out another problem with the implementation of the plan. In her opinion, it is very good that after so many years the Ministry has drawn up a plan for rare diseases, and it is very good that it includes the establishment of specialized centers for rare diseases, but it is still not clear what a referral to the center will look like, followed by the cooperation of the center with doctors who take care of the patient every day . Are there any educational activities planned for GPs, to make them more sensitive to rare diseases, and to refer their patients to centers as accurately and quickly as possible? What would their path look like later, in the same expert position? – asks the deputy.
Thomas Latus also noted this problem. – It is important, first of all, that not only family doctors, but also pediatricians and doctors of other specialties, at the right moment, as soon as possible, suspect that it may be a rare disease, and this diagnosis, primarily genetic, should be carried out. What happens next based on the record that will be established and more treatments at the leading centers is an entirely different story. I don’t think we should confuse the two. To think that everything will be handled only by a few leading positions would be deceptive and wrong, because they are responsible for performing slightly different tasks – assesses MP Latos. Sławomir Gadomski agrees that education for primary care doctors and specialists, including pediatricians, is absolutely essential. However, he did not mention anything about custom training. Information platform to serve their education. The question is is this enough? The lack of knowledge of rare diseases among primary care physicians is a problem, says SMA’s Kacper Ruciński, and unfortunately even in other European countries I haven’t heard of good ideas that could realistically change this. In his opinion, it is good to at least create an information portal. – Perhaps general practitioners will refer to it – he adds.
Hard to reach pain clinics
The group of patients with Arnold-Chiari syndrome and syringomyelia Alvaro Adrian Bustos also draws attention to another problem: cooperation between doctors from reference centers and, for example, family doctors in treatment, especially pain, which is very difficult. – Unfortunately, pain clinics are not readily available, causing exclusion and severe suffering for patients. The main question is whether reference center doctors or family doctors will then be able to help patients manage pain – ask patient representatives.
Maria Lepora, head of medical education and simulation at Collegium Medicom at the University of Warmia and Mazury in Olsztyn, points out that it’s important for the plan to be established and become a reality. But he admits he leans toward modern drug treatments. Its success will depend on meeting other needs, especially for patients without medication, and treating their symptoms, he says. a. Jolanta Sikkot-Siegelska, national consultant in metabolic pediatrics and head of the division of birth defects in metabolic and pediatrics at the Mother and Child Institute in Warsaw, acknowledged during Tuesday’s conference that the drugs are not well known for most rare diseases. Patients with it require symptomatic care and treatment, which improves quality of life. I hope to hear only good information about it – he says.
Rare diseases do not only affect children
There is another problem. Well, in the media space, even from the statements of public figures, it seems that rare diseases mainly affect children. Their treatment is mainly related to the Memorial Children’s Health Institute, where the Center for Rare Diseases was established in May 2021. The Polsat Foundation under the leadership of A. Krystyna Chrzanowska, as well as the Brand and Child Institute in Warsaw, which conducts screening for rare diseases. For example, recently it was possible to diagnose a newborn with spinal muscular atrophy (SMA) and after 15 days it was given a genetic drug that was very expensive, but is being compensated in Poland.
And as professor. Jolanta Sykut-Cegielska Half of the patients are children, and adults are also sick. – Sometimes the first symptoms are at puberty – the professor admits. Therefore, as noted by Beata Rorant, an expert on health protection for employers in the Republic of Poland, It is important to take care not only of children but also of adults. – We hope that the reference centers for rare diseases will take responsibility for the transition of care from childhood to adulthood, and then also provide care for adults – says the professor. Kristina Cherzanowska. However, it does not follow directly from the plan In the Regulatory Impact Assessment, we read that the elderly and the disabled, with rare diseases, would receive the proposed changes.
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