Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level – A New Tool for Primary Prevention: A Study Protocol

Abstract

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 three-generational 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 next-generation 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 burden.

Genetics-Related Activities in Everyday Practice of Family Physicians in Slovenia

“…We used a cross-sectional observational study design. This study was part of a study aiming to develop algorithm for determining a genetic risk at the primary health care level: a new tool for primary prevention [20].…”

Quality of life and health status in middle-aged presumed healthy Slovenian family practice attendees

“…This study is part of the research project Development of an Algorithm for Determining Genetic Risk at the Primary Healthcare Level: a New Tool for Primary Prevention (ID L7-9414) (20). The study's participants were people presumed healthy, aged 30 to 65 years, who came to 40 pre-selected model family medicine practices (MFMP) during the year 2019.…”

The Onset of Depression in Middle-Aged Presumed Healthy Slovenian Family Practice Attendees and Its Associations with Genetic Risk Assessment, Quality of Life and Health Status: A Contribution for Family Medicine Practitioners’ Early Detection

“…This study was conducted in the framework of a research project Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level: A New Tool for Primary Prevention (ID L7-9414) [32]. The participants were presumably healthy family practice attendees between 30 and 65 years, visiting model family medicine practices (MFMP) for a preventative check-up.…”

“…Between a third and a half of depression variance can be attributed to heritable factors [30], thus a positive family history is considered one of the three most powerful predictors of depression, together with recent major life events, and a personal history of past depressive episodes [31]. Family history of depression can be a risk factor for descendants even beyond two generations [32]. Depression has a complex, bidirectional connection to chronic somatic disease, as chronic disease patients are predisposed to depression and also experience more negative outcomes of their somatic disease due to depression [7,13,[33][34][35].…”