Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level – A New Tool for Primary Prevention: A Study Protocol
Article Category: Original scientific article
Published Online: Dec 13, 2019
Page range: 27 - 32
Received: Apr 10, 2019
Accepted: Oct 21, 2019
DOI: https://doi.org/10.2478/sjph-2020-0004
Keywords
© 2020 Polona Selič et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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.