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Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Family history as a risk factor for early CHD
- Criteria for useful CHD-related DNA tests (1)
- Analytical validity- accuracy and individual variation
- Clinical validity- how accurate is the risk estimate?
- Risk estimated for genetic effects
- Clinical utility- how do risk score algorithms work?
- Risk score methods- PROCAM/Framingham
- CRFs predict poorly in UK middle-aged men
- CRP: origin, clearance and function
- Adding CRP to algorithm risk score in NPHSII
- Can genotype predict risk over trait measure?
- Major new "gene" for MI/CHD
- Experts believe in the new method
- CDNK2A genotype and prospective CHD risk (1)
- CDNK2A genotype and prospective CHD risk (2)
- CDNK2A genotype and prospective CHD risk (3)
- Six new GWAS SNPs for risk prediction
- Genotypes of modest risk in combination
- Risk genotype- frequency and odds ratios
- Genetic tests for CHD: lipid gene SNPs
- DNA information to optimise risk stratification
- Measures of predictive performance
- Use genetic information to stratify intermediate risk
- Model clinical utility of adding CDKN2A
- Risk score distribution - CRFs only
- Risk score distribution - CRFs and genotype
- Criteria for useful CHD-risk DNA tests (2)
- ELSI - risk perception and behaviour change (1)
- ELSI - risk perception and behaviour change (2)
- Perception of risk information
- Smoking cessation motivation by DNA risk: design
- Smoking cessation motivation by DNA risk: results
- DNA tests & CHD risk stratification: are we ready?
- Genetic testing for CHD risk: fact!
Topics Covered
- Family history is a strong independent risk factor for early CHD
- Criteria for useful CHD-Risk DNA tests
- Analytical validity
- Clinical validity
- Risk estimates for genetic effects
- Clinical utility
- Risk score methods
- CRP: origin, clearance and function
- Is it likely that genotype will predict risk over and above trait measure?
- CDNK2A genotype and prospective CHD risk in NPHSII
- Six GWAS SNPs for risk prediction
- Will genotypes of modest risk be useful in combination
- Risk genotype frequency distribution and associated odds ratios
- Genetic tests for CHD: using lipid gene SNPs
- Can we use DNA information to optimize risk stratification
- Measures of predictive performance
- Use genetic information to stratify intermediate risk
- Model clinical utility of adding CDKN2A risk information
- Risk score distribution
- CRFs and genotype
- ELSI: risk perception and behaviour change
- Ethical, legal and social impact
- Perception of risk information
- Smoking cessation motivation by DNA risk: design and results
- DNA tests and CHD risk stratification: are we ready now?
Links
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Talk Citation
Humphries, S. (2008, November 24). Genetic testing for CHD risk: fact or fiction? [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/BHGE5774.Export Citation (RIS)
Publication History
Financial Disclosures
- Professor Humphries is the Medical Director of StoreGene a UCL spin out company that offers DNA testing for Cardiovascular Disease risk including testing for FH. Professor Humphries is a consultant for Verve Therapeutics, a US based company that is developing gene-editing agents to treat individuals with hypercholesterolaemia, including those with FH.