Whole genome sequencing in clinical practice

FO Bagger, L Borgwardt, AS Jespersen… - BMC medical …, 2024 - Springer
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

The transition from genomics to phenomics in personalized population health

JT Yurkovich, SJ Evans, N Rappaport, JL Boore… - Nature Reviews …, 2024 - nature.com
Modern health care faces several serious challenges, including an ageing population and
its inherent burden of chronic diseases, rising costs and marginal quality metrics. By …

Coronary artery calcium score and polygenic risk score for the prediction of coronary heart disease events

SS Khan, WS Post, X Guo, J Tan, F Zhu, D Bos… - Jama, 2023 - jamanetwork.com
Importance Coronary artery calcium score and polygenic risk score have each separately
been proposed as novel markers to identify risk of coronary heart disease (CHD), but no …

[HTML][HTML] The importance of LDL-C lowering in atherosclerotic cardiovascular disease prevention: Lower for longer is better

O Mhaimeed, ZA Burney, SL Schott, P Kohli… - American Journal of …, 2024 - Elsevier
Cumulative exposure to low-density lipoprotein cholesterol (LDL-C) is a key driver of
atherosclerotic cardiovascular disease (ASCVD) risk. An armamentarium of therapies to …

Personalized Intervention Based on Early Detection of Atherosclerosis: JACC State-of-the-Art Review

RV Nielsen, V Fuster, H Bundgaard, JJ Fuster… - Journal of the American …, 2024 - jacc.org
Cardiovascular disease (CVD) remains the leading cause of morbidity and mortality
worldwide and challenges the capacity of health care systems globally. Atherosclerosis is …

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

A Capalbo, G de Wert, H Mertes… - Human reproduction …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …

Molecular biomarkers for cardiometabolic disease: risk assessment in young individuals

UA Tahir, RE Gerszten - Circulation research, 2023 - ahajournals.org
Cardiometabolic diseases, including cardiovascular disease and diabetes, are major
causes of morbidity and mortality worldwide. Despite progress in prevention and treatment …

Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments

GB Busby, S Kulm, A Bolli, J Kintzle… - Nature …, 2023 - nature.com
Clinical implementation of new prediction models requires evaluation of their utility in a
broad range of intended use populations. Here we develop and validate ancestry-specific …

Polygenic risk score adds to a clinical risk score in the prediction of cardiovascular disease in a clinical setting

NJ Samani, E Beeston, C Greengrass… - European Heart …, 2024 - academic.oup.com
Background and Aims A cardiovascular disease polygenic risk score (CVD-PRS) can stratify
individuals into different categories of cardiovascular risk, but whether the addition of a CVD …

A polygenic risk score added to a QRISK® 2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care …

A Fuat, E Adlen, M Monane, R Coll… - European journal of …, 2024 - academic.oup.com
Aims The aim of the study was to assess the real-world feasibility, acceptability, and impact
of an integrated risk tool for cardiovascular disease (CVD IRT, combining the standard …