In Slovakia, genetic testing for inborn errors of immunity (IEI) is recommended by immunologist predominantly in 3 National Reference Centres for IEI (Martin, Bratislava, Košice) and the patient is sent to medical geneticist. Medical geneticist performs genetic counselling (pre-test and post-test), prescribes and selects the test and evaluates the results in the context of clinical symptoms, family history, laboratory patterns and functional testing (if available). Tissue samples (blood, buccal swab, urine) are sent to genetics laboratories which are mostly private. The counselling and also the testing is fully covered by public health insurance (PHI) if is indicated and acquires the informed consent. PHI in Slovakia is mandatory.
MPS (massively parallel sequencing, NGS) of clinical exome (CES) or whole exome (WES) are covered by PHI by law, but it is connected with longer waiting periods for results that can reach almost the year or longer. It is possible to ask for CITO testing (in this case the result can be reached in 1 to 3 months).
There is the possibility to use research projects for funding of genetic testing. This is favourable for CES, WES testing because of quicker results. These projects are supported by the Ministry of Health of the Slovak Republic, national/international institutions, scientific societies or by biopharmaceutical companies.
A genetic diagnosis of IEI is usually communicated during a post-test genetic counselling to the patients or their guardians. Clinical geneticist recommends follow up by other specialists, testing in relatives (segregation analysis), and consults possibility of prenatal or preimplantation genetic testing to prevent recurrence risk. IEI patients are followed up in National Reference Centres for IEI.
Newborn screening for SCID and agammaglobulinemia (TREC and also KREC screening) have been started in Slovakia in January 2024 as a part of obligatory screening. Three national reference centres (Martin, Bratislava, Košice) are stated for management of recalls.
National reference centre for IEI in Bratislava is the member of European Reference Network for Rare Immunological Disorders (ERN RITA). National reference centre for IEI in Martin is further specialized for diagnostics and care of patients with Autoinflammatory disorders and Hereditary angioedema and is a part of international networks and working groups.
The National Program for Rare diseases (to the year 2030) prepared by the Commission of the Ministry of Health of the Slovak Republic for rare diseases, which includes IEI, determines the structure of the rare disease patient´s health care. The program covers centralization and prioritization of care in specialized centres for rare diseases. It includes 3 main tasks:
1. To develop public awareness of rare diseases
2. To expand the education of the professional public about rare diseases
3. To expand and improve diagnostics, treatment and care for patients with rare diseases
Adam Markocsy, MD., PhD.
Centre for Primary Immunodeficiencies, Periodic Fever Syndromes, and Hereditary Angioedema
Department of Paediatrics and Adolescent Medicine
University Hospital in Martin
Jessenius Faculty of Medicine of Comenius University in Bratislava
Slovakia