eprintid: 10204481 rev_number: 9 eprint_status: archive userid: 699 dir: disk0/10/20/44/81 datestamp: 2025-02-10 08:16:50 lastmod: 2025-02-10 08:16:50 status_changed: 2025-02-10 08:16:50 type: article metadata_visibility: show sword_depositor: 699 creators_name: Schunkert, Heribert creators_name: Di Angelantonio, Emanuele creators_name: Inouye, Michael creators_name: Patel, Riyaz S creators_name: Ripatti, Samuli creators_name: Widen, Elisabeth creators_name: Sanderson, Saskia C creators_name: Kaski, Juan Pablo creators_name: McEvoy, John W creators_name: Vardas, Panos creators_name: Wood, Angela creators_name: Aboyans, Victor creators_name: Vassiliou, Vassilios S creators_name: Visseren, Frank LJ creators_name: Lopes, Luis R creators_name: Elliott, Perry creators_name: Kavousi, Maryam title: Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease ispublished: inpress divisions: UCL divisions: B02 divisions: D14 divisions: GA3 keywords: Genetics, Risk prediction, Polygenic risk score note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. abstract: Genome-wide association studies have revealed hundreds of genetic variants associated with cardiovascular diseases (CVD). Polygenic risk scores (PRS) can capture this information in a single metric and hold promise for use in CVD risk prediction. Importantly, PRS information can reflect the causally mediated risk to which the individual is exposed throughout life. Although European Society of Cardiology guidelines do not currently advocate their use in routine clinical practice, PRS are commercially available and increasingly sought by clinicians, health systems, and members of the public to inform personalized health care decision-making. This clinical consensus statement provides an overview of the scientific basis of PRS and evidence to date on their role in CVD risk prediction for the purposes of disease prevention. It provides the reader with a summary of the opportunities and challenges for implementation and identifies current gaps in supporting evidence. The document also lays out a potential roadmap by which the scientific and clinical community can navigate any future transition of PRS into routine clinical care. Finally, clinical scenarios are presented where information from PRS may hold most value and discuss organizational frameworks to enable responsible use of PRS testing while more evidence is being generated by clinical studies. date: 2025-02-05 date_type: published publisher: Oxford University Press (OUP) official_url: https://doi.org/10.1093/eurheartj/ehae649 full_text_type: other language: eng verified: verified_manual elements_id: 2358876 doi: 10.1093/eurheartj/ehae649 lyricists_name: Kaski, Juan Pablo lyricists_name: Patel, Riyaz lyricists_id: JPKAS28 lyricists_id: RSPAT27 actors_name: Patel, Riyaz actors_id: RSPAT27 actors_role: owner full_text_status: restricted publication: European Heart Journal issn: 0195-668X citation: Schunkert, Heribert; Di Angelantonio, Emanuele; Inouye, Michael; Patel, Riyaz S; Ripatti, Samuli; Widen, Elisabeth; Sanderson, Saskia C; ... Kavousi, Maryam; + view all <#> Schunkert, Heribert; Di Angelantonio, Emanuele; Inouye, Michael; Patel, Riyaz S; Ripatti, Samuli; Widen, Elisabeth; Sanderson, Saskia C; Kaski, Juan Pablo; McEvoy, John W; Vardas, Panos; Wood, Angela; Aboyans, Victor; Vassiliou, Vassilios S; Visseren, Frank LJ; Lopes, Luis R; Elliott, Perry; Kavousi, Maryam; - view fewer <#> (2025) Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease. European Heart Journal 10.1093/eurheartj/ehae649 <https://doi.org/10.1093/eurheartj%2Fehae649>. (In press). document_url: https://discovery.ucl.ac.uk/id/eprint/10204481/1/Patel_Manuscript_PL_HS_MI_clean.pdf