On some points, the development of the orphan patient support system in Ukraine is faster than in Europe - EURORDIS

On 7 February the Ministry of Health held a meeting dedicated to the development of medical care for patients with rare (orphan) diseases. It was attended by representatives of the Ministry of Health of Ukraine, the European Organization for rare diseases (EURORDIS), Ukrainian public organizations that deal with patients with orphan diseases, and doctors-specialists in the field of genetics. The meeting was chaired by Oleksandra Mashkevych, director of the Department of medical services of the Ministry of Health of Ukraine.

“The full-scale war and russian aggression have affected the way Ukraine's healthcare system functions. We suffered a significant attack, but we resisted, adapted to new challenges and continue to work. The orphan patient care system is no exception. At the height of the war, we launched advanced neonatal screening for 21 rare diseases. Therefore, babies born in Ukraine have the opportunity to detect orphan diseases in a timely manner. This means that they will start receiving treatment earlier, and specialists will be able to correct their conditions with full or partial rehabilitation, and therefore improve the quality of life,” said Oleksandra Mashkevych.

The extended neonatal screening project was launched on 17 October 2022 in 12 regions of Ukraine on the basis of three neonatal screening centers. The Ministry of Health plans to open two more regional screening centers (in Kharkiv and Kryvyi Rih), which will significantly expand the geography of service coverage. 

The process of neonatal screening is accompanied and recorded in the electronic healthcare system (EHCS): from registering a newborn in the system and taking blood samples by a maternity hospital doctor to processing a referral by a laboratory and recording a diagnostic report based on research results. This digitalization of the process made it possible to optimize communication between system participants and ensure prompt exchange of research data. This is the key to detecting the disease before symptoms appear and timely application of protocol therapy to prevent its development. The NHSU Academy has developed a training course "New Neonatal Screening System in Ukraine" to familiarize medical professionals with the procedure for conducting extended neonatal screening and the specifics of maintaining electronic medical records, creating and using electronic referrals for neonatal screening.

Within the framework of the pilot project in 12 regions of Ukraine on the basis of expert (NSCH “Okhmatdyt”) and two regional (NSCH “Okhmatdyt”, Lviv State Regional Clinical Perinatal Center) neonatal screening centers examined blood samples of almost 30 thousand newborns of Kyiv city; Vinnytsia, Volyn, Zhytomyr, Zakarpattia, Ivano-Frankivsk, Kyiv, Lviv, Rivne, Ternopil, Khmelnytskyi and Chernivtsi oblasts). 804 children needed a call, clinical examination, and repeated examinations. 38 children had a positive screening result.  

In addition, according to Oleksandra Mashkevych, the Ministry is working to provide high-quality medical care to patients, including effective and safe medicines and medical devices, products of special medical nutrition; reducing patients' expenses for medical services and increasing the level of access to medical care and psychosocial support for patients and their families.

Ukraine has approved an action plan for the implementation of the concept for the development of the system of providing medical care to patients with orphan diseases for 2021-2026. Work continues on the introduction of the ORPHANET resource in Ukraine (provides information on orphan drugs and rare diseases), as well as on the approval of the National classifier of rare diseases.

Current health industry standards for detecting, early diagnosing, and providing medical care to patients with orphan diseases are reviewed and approved. 

At the end of 2022, the Ministry of Health established a working group on rare diseases. Its members will review scientific recommendations and conduct professional consultations on orphan diseases, coordinate, establish, manage and operate a network of reference centers. 

At the beginning of 2023, Ukraine has already approved the “Unified clinical protocol of primary and specialized medical care “Gaucher's disease”” (order of the Ministry of Health of 04.01.2023 No. 12). The development of protocols for 15 diseases included in neonatal screening (tyrosinemia, galactosemia, organic aciduria, impaired beta-oxidation of fatty acids) has begun.

http://ips.ligazakon.net/document/view/re38456?ed=2022_09_07Regulations on the network of reference centers for rare (orphan) diseases and the requirements and criteria that such centers must meethttps://ips.ligazakon.net/document/view/re38456?ed=2022_09_07 http://ips.ligazakon.net/document/view/re38456?ed=2022_09_07have been approved to ensure coordination and improve the quality of medical care for patients with orphan diseases.

This is the first step towards creating a network of reference centers for rare diseases. Its implementation will help reference institutions solve a number of organizational issues and provide patients with services more efficiently and comprehensively, constantly improve the skills of medical professionals, etc.

EURORDIS representatives shared information on how patient organizations in Europe organize support for Ukrainian families who were forced to travel abroad or were affected by the war, offered assistance to the Ministry in improving the field of rare diseases in Ukraine. According to international partners, the speed of our country's development of the orphan patient support system in some respects exceeds the pace at which the system is developing in Europe.