319 KB31 KB200220262020Cerovič, MetkaKlemenc-Ketiš, ZalikaKopčavar Guček, NenaKravos, AndrejMakivić, IrenaPeterlin, BorutPoplas-Susič, TonkaRifel, JanezSelič, PolonaTevžič, ŠpelaZelko, Erikaštevilka:1letnik:59str. 27-32ISSN:0351-0026COBISSID_HOST:34628825URN:URN:NBN:SI:doc-P7OHWU4VenNacionalni inštitut za javno zdravjeZdravstveno varstvodružinska anamnezadružinska medicinafamily historyfamily medicinepedigreerodovnikiSloveniaDevelopment of an algorithm for determining of genetic risk at the primary healthcare level - a new tool for primary prevention| a study protocol| predstavitev protokola raziskave| Razvoj algoritma za določanje genetskega tveganja na primarni ravni zdravstvenega varstva - novo orodje v primarni preventivi|Introduction: Family history (FH) is an important part of the patients' medical history during preventive management at model family medicine practices (MFMP). It currently includes a one (or two) generational inquiry, predominately in terms of cardiovascular diseases, arterial hypertension, and diabetes, but not of other diseases with a probable genetic aetiology. Beside family history, no application-based algorithm is available to determine the risk level for specific chronic diseases in Slovenia. Methods: A web application-based algorithm aimed at determining the risk level for selected monogenic and polygenic diseases will be developed. The data will be collected in MFMP; approximately 40 overall with a sample including healthy preventive examination attendees (approximately 1,000). Demographic data, a threegenerational FH, a medical history of acquired and congenital risk factors for the selected diseases, and other important clinical factors will be documented. Results: The results will be validated by a clinical genetic approach based on family pedigrees and the nextgeneration genetic sequencing method. After the risk of genetic diseases in the Slovenian population has been determined, clinical pathways for acting according to the assessed risk level will be prepared. Conclusion: By means of a public health tool providing an assessment of family predisposition, a contribution to the effective identification of people at increased risk of the selected monogenic and polygenic diseases is expected, lessening a significant public health burdenTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaNacionalni inštitut za javno zdravje