WP05 Polygenic Risk Scores (PRS) and Decision Support Tools

Share this post

WP5 aims to develop recommendations for a genomic risk assessment report for physicians and genetic counsellors that they could use in selecting treatment options for the cancer patient and for genetic counselling in general.

The use cases in this work plan are breast, prostate, colorectal cancer and melanoma.

WP5 will include:

  1. Research of PRS (polygenic risk score) and protective loci of most common cancers. The calculation of PRS as well as identification of protective loci will be based on data from large GWAS studies and GoE project.
  2. Study of the AI-based decision support systems (DSS) using genetic and environmental data to predict disease, as well as creation of an inventory of DSSs. DSSs are AI-based programs that analyse data within electronic health records to provide prompts and reminders to assist healthcare providers in implementing evidence-based clinical guidelines at the point of care. The objective will be to provide recommendations about this process by piloting through existing precision medicine initiatives at the national level as a use case of real-world data.
  3. Developing strategies for implementation of remote genetic counselling and telegenetics in Europe. In the clinical care of patients with cancer predisposition, the genetic counselling of the patient and their family members is important to support diagnosis, prevent cancer diseases and clarify therapeutic implications.Thus, the implementation of remote genetic counselling and telegenetics is highly needed to reduce misinterpretation of test results, inaccurate clinical management and provide access to clinical genetics and genetic counselling services for patients and health care providers.
  4. Development of recommendations for establishing large scale population-based early intervention programs for prevention of varions cancers. This will also include investigation of the concept of adding liquid biopsy (LB) based NGS analysis for the very high PRS individuals in order to increase the precision of personalised prevention in population-based early cancer detection and prevention.