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

INTRODUCTION: Development of genomic technologies has an important impact on patient management in medicine. Nevertheless, translation of new advances of genomic medicine in primary care is challenging and needs to be adapted to the needs of health systems. OBJECTIVE: The objective of this study was to analyze the current state of the use and the level of confidence in genetic management activities in everyday clinical practice of family practitioners (FPs) in Slovenia. METHODS: We used a cross-sectional observational study design. The dataset was obtained through a questionnaire containing demographics, questions about the use of genetics in everyday practice, and a scale for measuring the responders' confidence in their ability to carry out basic genetic activities during patient treatment. The questionnaire was sent by regular mail to every FP in Slovenia (N = 950). RESULTS: The questionnaire was completed by a total of 271 physicians (response rate 28.5%), with an average physicians' age of 45.5 ± 10.6 years. In their everyday clinical practice, the majority of Slovenian FPs report to encounter genetic conditions more than once a month (241, 91.2%). Family medical history is the most commonly used among all activities related to genetic management of patients. Only 5.9% of Slovenian FPs are confident in their ability to carry out basic activities related to genetic patient management. Most of them believe they are only competent enough to obtain family medical history and identify a positive family history. The FPs who reported a lower degree of confidence are those with the lowest level of education in the field of medical genetics and older physicians (age >50 years). CONCLUSIONS: Slovenian family physicians commonly encounter patients with genetic conditions but are not confident in their ability to carry out basic medical genetic tasks. Therefore, additional education is necessary.

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

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.