Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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More Than 1700 Doctors of Different Specialties Took Part in the All-Russian Multimedia Conference «Orphanetika»

The conference was held in Moscow on March 23, 2023. The event was organized by the Association of Medical Geneticists with the support of the Research Centre for Medical Genetics.

At the conference, medical specialists of various profiles considered the issues of increasing the detection of hereditary diseases in the regions, the problems of advanced neonatal screening, in particular parental information, issues of registration of the package of documents for obtaining medication therapy at the expense of the charity fund «The Circle of Well».

Genome-wide research is no panacea

Doctors of any specialty can face with hereditary pathology. Specialists note: neurologists and paediatricians often send patients to get the geneticist advice, while orthopaedic doctors, who receive patinets, refer patients rather rarely. Vera Izhevskaya, Holder of an Advance Doctorate in Medical Sciences, deputy director for scientific work of the Research Centre for Medical Genetics, stressed that the «orphan odyssey» of a patient with orthopaedic manifestations can last quite a long time.

Lyudmila Mikhailova, professor, traumatologist-orthopaedist of the Research Scientific Institute for Paediatrics and Children’s Healthcare of the CCH RAS, noted that today it is necessary to rebuild the thinking of orthopaedics: “The combination of 2 - 3 features that accompany contractures of joints is the reason to refer to geneticist advice; also we need training of X-rays specialists in the field of orphan diseases as often doctors face the fact that X-rays show no signs of a hereditary disease, although they are clearly present”.

“Many cardiologists are already aware of the orphan diseases, can suspect metabolic diseases and direct a patient for confirmative DNA-diagnostics”,- said Irina Leontyeva, professor, Holder of an Advanced Doctorate in Medical Sciences, chief researcher of the department of children’s cardiology and arrhythmology of the Scientific Research Clinical Institute for Paediatrics at RSRMU named after N.I. Pirogov. She stressed that knowledge about genetics and metabolism had become a minimum knowledge basis for cardiologists in recent years, as the revelation of the metabolic genesis of a disease allow to prescribe the therapy. Irina Leontyeva noted that the main problem remains inaccessibility of DNA-diagnostics for patients in some cases.

“It is necessary to precisely determine the routing of a patient suspected of hereditary disease for carrying out genetic research, it is also necessary to improve the price policy of genomic research, because part of the patients cannot be diagnosed based on the results of research of genetic panels”, - said Irina Leontyeva.  

She cited a case from her practice as an example: specialists suspected a hereditary metabolic disease in a patient with cardiomyopathy. The 17-gene panel did not identify the cause of the disease. It was possible to identify one of the forms of Pompe disease only through genome-wide sequencing.

However, Vera Izhevskaya stressed that genome-wide research is not a panacea, you should not rely on them only for making a diagnosis. The disadvantage of genome-wide studies is that it takes longer to analyze data and install pathogens than to evaluate the results of panel tests, and in some cases the patient needs help as soon as possible. In such situation the identified options can only complicate the diagnostics.

“Today, doctors of all specialties must be able to describe the phenotype and all clinical manifestations very accurately. Only in this case, a geneticist will be able to choose a purposefully necessary amount of research. Formation of orphan alertness must pass through all stages of the doctor’s training, from university education to continuing professional education. This should apply not only to geneticists and laboratory geneticists, but also to doctors of all profiles. It is necessary to form a doctor’s understanding that if he sees an unusual case that does not fit into the usual picture then a patient should be referred for consultation to a geneticist. This is especially important for those diseases that did not enter mass screening but have effective treatment”, - stressed Vera Izhevskaya.

«The Circle of Well» - how to apply for the drug?

Regional specialists regularly have questions about the preparation of documents for the charity fund «The Circle of Well». A separate section was devoted to these issues. The conference stressed: the mechanism of work with the fund is constantly improving, all information about the necessary documents is posted on the site «The Circle of Well», and additional questions can be addressed to individual specialists for work with regions.

Natalya Kulakova, head of the project department of the fund, noted that the site «The Circle of Well» is dynamically developing, it contains information about all new decisions, activities of the fund.

“The site contains a list of documents required for the application, as well as categories of children to provide some kind of assistance, medicines and medical products. The site provides as detailed information as possible on how to apply for assistance from the fund for parents. You can find an educational course in the section «Useful materials» on how to fill out an application, how to work with the notification system, as well as a video instruction on filling out the application. There is a direct link to the portal of state services in the section “For parents” where you can declare the need for assistance from the fund. The application will go to the executive authority in the field of healthcare of a subject of the Russian Federation, is registered in the USISH, the region forms an application. We have experience in returning requests for revision with clear reasons for return. It is unfortunate that sometimes formal signs are a reason to return for refinement. If the documents are all properly formed, the way from registration to submission to the expert council is as short as possible. Parents receive a notification of the decision in their personal account on the state services portal. The information resource of «The Circle of Well» is constantly improving, parents will receive notifications about the supply of medications in the nearest future”, - said Natalya Kulakova.

Spinal muscular atrophy: reaching parents

One of the main problems in the organization of care for patients with spinal muscular atrophy today is the educational work with parents. When a newborn is at risk, it is necessary to contact the family as soon as possible to invite them for a confirmation study. In many cases, this is difficult for many reasons: the family moves, there is no information about their whereabouts in a healthcare facility, or the parents refuse to accept the diagnosis, do not agree to a corroborative study. All this affects the quality of medical care.

“Screening for spinal muscular atrophy on sets of domestic production is now successful, its first stage covers most regions of Russia. As of March 10, 2023, 179,000 newborns had undergone SMA and primary immunodeficiency tests under the advanced neonatal screening programme which is a significant achievement. In the initial phase, 54 newborns were at risk for spinal muscular atrophy, but only 70 percent of the samples were submitted to the reference centre for confirmation. No doubt it’s not a transportation problem. It is estimated that 22 of the 179,000 newborns will be diagnosed with spinal muscle atrophy. However, not all parents are ready to complete the diagnostics: a confirmatory study that will reveal the deletion of the 7-8 SMN1 gene and determine the number of copies of the SMN2 gene. Some types of SMA may not appear in the first months, and parents do not believe that their child may have a dangerous disease. The situation can be corrected only by educational work with parents, informing about the ways of help and that molecular confirmation of the diagnosis should be obtained as soon as possible”, - said Olga Shchagina, PhD, leading researcher of the laboratory DNA-diagnostics at RCMG.

Olga Shchagina noted that patients from the Ural Federal District arrive to RCMG as a reference centre of advanced neonatal screening most quickly. Personnel and IT-decisions of the region allowed to establish such work between parents, medical and genetic consultation and the federal centre.

“We have a coordination group, which is responsible for advanced neonatal screening, starting from the moment of blood intake, ending with confirmation of the diagnosis. Coordination work with patients is not carried out by laboratory doctors, but individual specialists, it is more correct from our point of view’, - said Tatiana Belyaeva, head of the laboratory of neonatal screening at CDC «Centre of Mother’s and Child’s Health», Yekaterinburg.

The data of the pilot project of screening on SMA and PIDs of the Research Centre for Medical Genetics in which the Ural Federal District became a participant indicate that 15 newborns with spinal muscular atrophy are expected in this region. Experts also noted that today it is necessary to introduce external quality control of laboratory studies of advanced neonatal screening.