The project results are expected to contribute to the development of methodologies allowing for a practical risk assessment of (currently) healthy persons to evaluate their genetic predisposition. The project will facilitate identification of individuals and families at increased genetic risk, which will contribute to better understanding of the epidemiology and extent of the health problem as well as new possibilities in the field of primary and secondary prevention. An algorithm will be developed aimed at determining the risk level for the selected monogenic and polygenic diseases. The risk present among the Slovenian population for genetic diseases will be determined and clinical paths for acting when a certain risk level is present will be prepared. The results will be validated by a clinical genetic approach based on family pedigrees and the next-generation genetic sequencing method.
F.18 Transfer of new know-how to direct users (seminars, fora, conferences)
COBISS.SI-ID: 512969016Introduction: During preventive management at model family medicine practices (MFMP), family history (FH) is an important part of the patients` medical history. Currently, it includes one- (or two-) generational inquiry, predominately in terms of cardiovascular diseases, arterial hypertension and diabetes, but not of other diseases with probable genetic aetiology. Also, no application based in algorithm available to determine the risk level for specific diseases for enhancing quality of work is available in Slovenia. Methods: An web application based algorithm aimed at determining the risk level for the selected monogenic and polygenic diseases has been developed. The data will be collected in MFMP (N = 40), sample including healthy preventive examinations attendees (n=1200). Demographic data, three-generational FH and medical history of acquired and congenital risk factors for the selected diseases, and important clinical factors will be documented. Results: Results will be validated by a clinical genetic approach based on family pedigrees and the next-generation genetic sequencing method. After the risk among the Slovenian population for genetic diseases is determined, clinical pathways for acting according to assessed risk level will be prepared. Conclusion: By means of the public health tool providing an assessment of family predisposition, a contribution to an effective identification of people at increased risk for the selected monogenic and polygenic diseases is expected, lessening an important public health burden.
F.18 Transfer of new know-how to direct users (seminars, fora, conferences)
COBISS.SI-ID: 13606659