Dve desetletji delovanja Oddelka za molekularno diagnostiko na Onkološkem inštitutu Ljubljana Two Decades of the Department of Molecular Diagnostics at the Institute of Oncology Ljubljana

Abstract

Oddelek za molekularno diagnostiko je bil na Onkološkem inštitutu Ljubljana ustanovljen leta 2005 na pobudo znan. svet., dr. Srdjana Novakovića. V 20-letnem obdobju je Oddelek za molekularno diagnostiko postal osrednji laboratorij v Sloveniji tako za genetsko testiranje posameznikov z večjo ogroženostjo za dedne oblike raka kakor tudi za molekularno-genetsko testiranje različnih vrst solidnih tumorjev, kjer je informacija o genotipu tumorja pomembna pri načrtovanju zdravljenja, pomoč pri diagnozi ali prognozi bolezni. Posebno področje dela oddelka predstavljajo farmakogenetske preiskave, s katerimi ocenimo napoved presnavljanja zdravil ter opredelimo bolnike z večjim tveganjem za hude neželene učinke. Oddelek za molekularno diagnostiko se lahko po zahtevnosti in kakovosti svojih preiskav primerja z mednarodno priznanimi centri na področju molekularne diagnostike. To potrjuje z obsežnim naborom preiskav, ki sledijo priporočilom mednarodnih strokovnih smernic za obravnavo onkoloških bolnikov, ter z rednim sodelovanjem in uspešno opravljenimi zunanjimi kontrolami kakovosti. Slovenskim onkološkim bolnikom je s tem omogočen dostop do celovitih molekularno- -genetskih preiskav znotraj države, brez potrebe po napotitvah v tujino. Pomemben mejnik predstavlja tudi dogovor z Zavodom za zdravstveno zavarovanje Slovenije o financiranju teh storitev, kar bolnikom zagotavlja dostopno in visokokakovostno diagnostiko ter bolniku prilagojeno zdravljenje s tarčnimi zdravili v skladu z najsodobnejšimi mednarodnimi smernicami in brez dodatnih stroškov za bolnike. Na molekularno-genetsko testiranje na Oddelek za molekularno diagnostiko lahko svoje bolnike napotujejo zdravniki iz različnih zdravstvenih ustanov iz celotne Slovenije.

Abstract (Eng)

The Department of Molecular Diagnostics at the Institute of Oncology Ljubljana was established in 2005 at the initiative of Prof. Dr. Srdjan Novaković. Over the past 20 years, it has evolved into the central national laboratory for genetic testing of individuals with a higher risk of hereditary cancer syndromes, as well as for molecular genetic testing of various types of solid tumours, where tumour genotyping plays a key role in diagnosis, treatment planning, and prognosis. A special area of the department’s work involves pharmacogenetic testing, which identifies patients at increased risk of severe adverse drug effects. In terms of the complexity and quality of its diagnostic services, the Department of Molecular Diagnostics is comparable to internationally recognized centres performing molecular diagnostics. This is demonstrated by its extensive range of tests that follow international clinical guidelines for the management of cancer patients, as well as by its regular participation and successful performance in external quality assessment schemes. As a result, Slovenian cancer patients have access to comprehensive molecular genetic testing within the country, without the need for referral abroad. An important step forward has also been the agreement with the Health Insurance Institute of Slovenia (ZZZS) on the funding of these services, ensuring patients have access to high-quality diagnostics and personalized treatment with targeted therapies, in accordance with the most up-to-date international guidelines and without any additional costs to patients. Patients from healthcare institutions across Slovenia may be referred for molecular genetic testing to the Department of Molecular Diagnostics.