Družinska anamneza - genetsko orodje za preventivno medicino (Slovene)

Preeclampsia and preterm labor are major causes of morbidity and mortality in pregnancy. In adults cardiovascular, neurodegenerative an psychiatric disorders i.e. Parkinson's disease and depression contribute significantly to the global burden of disease worldwide. Pathological process starts well before the first symptoms and signs of the named diseases apear. The etiology of these diseases is multifactorial, several genetic factors (gene mutation and genetic variability) as well as environmental factor do contribute. Family history is one of the most important risk factor in multifactorial disorders. Currently, genetic determinants can still not be efficiently diagnosed and used in the clinical practice. The purpose of this project is therefore to develop a questionaire for identification of family history and consequently for stratification of genetic risk for complex diseases. Additionally, we will test genetic polymorphisms in genes most consistently associated with chosen diseases. We expect that the family history stratification tool, along with genetic variability and established risk factors will enable to contribute to the successful identification of high risk individuals for preeclampsia and preterm labor, Parkinson's disease, depression and corronary heart disease.

In spite of the discovery of the human genome, useful predictive models based on genomic data haven't been developed for complex diseases yet. We demonstrated that family history is an important tool to improve predictive models. We also suggest integration of family history and other genomic data to improve predictive and personalised medicine.

Complex disorders like coronary heart disease, diabetes, neurodegenerative disorder and preterm birth contribute significantly to the health burden of population. Consequently they have important economical consequences. With our research we contributed to the early identification of the at risk individuals and consequently to effective prevention of diseases.