ArticleZdravstveno varstvo2020
Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level - A New Tool for Primary Prevention: A Study Protocol.
Article in Zdravstveno varstvo, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Quality of Life and Health Status in Middle-aged Presumed Healthy Slovenian Family Practice Attendees.Zdravstveno varstvo · 2021Article
- 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.International journal of environmental research and public health · 2021Article
- Successful Implementation of Integrated Care in Slovenian Primary Care.Zdravstveno varstvo · 2020Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFamily 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.
methodsA 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.
resultsThe 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.
conclusionBy 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.
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