Advances in diagnostics and treatment of rare diseases help to save lives and improve the quality of life of those affected

On the occasion of the International Day of Rare Diseases, the Ministry of Health (MoH) on Friday hosted a discussion on how to ensure more effective diagnostics and treatment of such diseases, focusing on a patient and his/her family. Participants of the discussion agreed, that Lithuania has significantly progressed in the field, and discussed further steps on how to improve healthcare of patients having rare diseases.

The discussion “Patient and family-centred multidisciplinary integrated healthcare for patients with rare diseases” was attended by representatives of the Ministry of Health, treatment institutions, the National Health Insurance Fund under the Ministry of Health and patients’ organisations, as well as the representative of the European alliance of patient organisations improving lives of all people living with rare diseases (EURORDIS) – Liesbeth Siderius.

Edgaras Narkevičius, Adviser to the Minister of Health, made the introductory remarks, saying that rare diseases are a priority health policy issue in Lithuania. Under his leadership, Rare Diseases Health Policy Group examines current issues in personalised medicine, policy of rare diseases and the development of human genome research.

“Fortunately, improving technologies, developed new methods for treatment and examination allows us to achieve better health promotion results and reduce the number of deaths preventable through healthcare. While solutions to the problems of patients with rare diseases and their relatives often require special measures, their results contribute to improving the quality and accessibility of healthcare for the entire population,” Adviser to the Minister of health said.

Clearer patient’s pathway

“There have been many changes in the field of rare diseases in recent years: there has been a significant improvement in diagnostic possibilities, more and more opportunities to appoint specific treatment, that affects the course of a disease, and integrated, multidisciplinary care, we have strong centres of excellence for rare diseases, and a growing number of services for patients with rare diseases (such as day inpatient and long-term follow-up). Now is the time to build clear, well-organised pathways so that patients would receive all these services and would no longer face years of diagnostic odysseys and mazes in the health system,” Dr. Birutė Tumienė, head of the Centre for Coordination of Rare Diseases at Vilnius University Hospital Santaros Klinikos, says.

Centre for Coordination of Rare Diseases at Vilnius University Hospital Santaros Klinikos coordinates the provision of services to patients having rare diseases in Lithuania, which consists of 38 centres of excellence, and the Coordinating Center for Rare and Undiagnosed Diseases at the Hospital of Lithuanian University of Health Sciences Kauno klinikos comprising 25 centres of excellence.

To strengthen coordination, a project funded by Structural Funds of the European Union was implemented Improving the quality of services through the development of standards for integrated health care for the leading causes of death and health disorders. As part of this project, a methodological document was prepared and published on the MoH website Diagnostics, Treatment and Long-term Care of Rare Diseases, defining the pathway for a patient with a rare disease, including timely, high-quality, continuing healthcare, multidisciplinary help, service coordination, case management, etc.

Legal framework is improved 

To improve access to healthcare for patients with rare diseases, a draft Order of the Minister of Health “On the Approval of the Procedure for Diagnosis, Treatment and Care of Patients with Rare or Undiagnosed Diseases” has already been prepared and is currently being coordinated. This document will establish general provisions and indications for suspecting a rare disease, the procedure for referring patients to centres of excellence or reference for rare diseases, the requirements for centres of excellence and reference for rare diseases, the principles of testing and treating patients, the procedure for remote consultation of patients within the European networks of centres of reference, requirements for the long-term follow-up of patients and for training of patients, and the assessment of the quality of personal health care services for patients suffering from rare or undiagnosed diseases.

An amendment to the Law on Pharmacy has been submitted to the Seimas and will be discussed in the spring session. The amendment revises the definitions of a very rare medical condition and of an emergency case, and introduces other important improvements that are expected to improve the provision of medicines and medical aids to patients.

The Ministry of Health plans to allocate EUR 10 million between 2024 and 2029 to improve qualifications of healthcare professionals, one of the areas of improvement being the principles of diagnostics and treatment of rare diseases.

About rare diseases

A rare disease is a disease, that affects no more than 5 in 10,000 people. About 75 % of rare diseases start in childhood, most of them are genetic, thus, strong emphasis on genetic diagnosis and family counselling is given. Newborns born in Lithuania are currently screened for 12 congenital rare diseases.

As diagnostic tools improve, more and more rare diseases are being diagnosed each year and more patients are getting treatment they need. Between 2018 and 2023, the amount of the Compulsory Health Insurance Fund budget allocated for treatment of extremely rare human health conditions has increased by about 3 times (from EUR 5.5 million to EUR 18.525 million), and 40% more patients have received reimbursed treatment for extremely rare health conditions (262 in 2018 and 368 in 2023). In 2024, EUR 27.525 million has been earmarked for the treatment of very rare human conditions and the treatment of unforeseen cases.

Communication Department of Ministry of Health

(Freepik photo)

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