Utility of genetic determinants of lipids and cardiovascular events in assessing risk
Abstract
The prevention of coronary heart disease (CHD) is a major public-health goal, but disease architecture is such that a larger proportion of clinical events occur among the average majority than among the high-risk minority--the prevention paradox. Genetic findings over the past few years have resulted in the reopening of the old debate on whether an individualized or a population-based approach to prevention is preferable. Genetic testing is an attractive tool for CHD risk prediction because it is a low-cost, high-fidelity technology with multiplex capability. Moreover, by contrast with nongenetic markers, genotype is invariant and determined from conception, which eliminates biological variability and makes prediction from early life possible. Mindful of the prevention paradox, this Review examines the potential applications and challenges of using genetic information for predicting CHD, focusing on lipid risk factors and drawing on experience in the evaluation of nongenetic risk factors as screening tests for CHD. Many of the issues we discuss hold true for any late-onset common disease with modifiable risk factors and proven preventative strategies.
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The presence of genetic evidence to support causation increases the probability several-fold of a therapeutic targeting the same biomarker being successful in a phase III outcome trial and obtaining a marketing authorisation.
“The presence of genetic evidence to support causation increases the probability several-fold of a therapeutic targeting the same biomarker being successful in a phase III outcome trial and obtaining a marketing authorisation 11 12 .”
From Integrating genomics with biomarkers and therapeutic targets to invigorate cardiovascular drug development (2021) · cites this paper as [11]
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- Authors
- Holmes, M. V., Harrison, S., Talmud, P. J., Hingorani, A. D., & Humphries, S. E.
- Affiliations
- University College London (GB)
- Corresponding author
- Hingorani, Aroon D.
- Humphries, Steve E.
- Venue
- Nature Reviews Cardiology
- Published
- 2011-02-15
- Volume
- 8
- Issue
- 4
- Pages
- 207-221
- ISSN
- 1759-5002 (ISSN-L)
- 1759-5010
- OpenAlex
- W2027805811
- Cited by
- 44
- References
- 167
- Citations by year
- 2025: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2017: 2 · 2016: 6 · 2015: 5 · 2014: 7 · 2013: 3 · 2012: 13
- FWCI
- 1.56
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Cardiology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- British Heart Foundation (FS/11/16/28696, FS05/125, RG 08/008, PG/07/133/24)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Nutrition, Genetics, and Disease
- Keywords
- coronary artery disease, genetic risk prediction, genetic testing, prevention paradox, cardiovascular risk assessment, lipid screening, modifiable risk factors
- MeSH terms
- Coronary Artery Disease, Ethnicity, Genetic Testing, Humans, Lipids, Risk Factors, Genetic Variation, Genome, Human, Risk Assessment, Genome-Wide Association Study
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