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Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level - A New Tool for Primary

Polona Selič1, Zalika Klemenc-Ketiš1,2,3, Erika Zelko2,3

  • 1University of Ljubljana, Faculty of Medicine, Department of Family Medicine, Poljanski nasip 58, 1000 Ljubljana, Slovenia.

Zdravstveno Varstvo
|September 21, 2020
PubMed

Insights

A new algorithm will assess genetic disease risk using family history data in Slovenia. This tool aims to identify individuals at higher risk for monogenic and polygenic diseases, improving preventive care.

Area of Science:

  • Genetics
  • Preventive Medicine
  • Public Health

Background:

  • Family history (FH) is crucial for preventive care but limited to 1-2 generations and specific diseases.
  • Current FH inquiries in Slovenia often exclude diseases with probable genetic causes.
  • No application-based algorithms exist in Slovenia for assessing chronic disease risk based on FH.

Purpose of the Study:

  • To develop a web application-based algorithm for determining risk levels of monogenic and polygenic diseases.
  • To enhance risk assessment beyond traditional family history by incorporating a broader range of genetic factors.
  • To provide a public health tool for identifying individuals at increased risk of genetic diseases.

Main Methods:

  • Developing a web application algorithm for risk assessment.
  • Collecting data from approximately 1,000 healthy individuals attending preventive examinations at 40 model family medicine practices (MFMP).
  • Gathering demographic data, three-generational FH, medical history of risk factors, and other clinical data.

Main Results:

  • The algorithm's results will be validated using clinical genetic approaches, including family pedigrees and next-generation sequencing.
  • Risk assessment for genetic diseases in the Slovenian population will be determined.
  • Clinical pathways will be developed based on the assessed risk levels.

Conclusions:

  • The study expects to contribute to the effective identification of individuals at increased risk for selected genetic diseases.
  • The public health tool will aid in assessing family predisposition to genetic conditions.
  • This initiative aims to reduce the public health burden associated with genetic diseases.
Abstract

Keywords:
family historyfamily medicinegenetic predispositionpedigreepopulation at risk

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