Trauma-informed care (TIC)
61 min
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- Epidemiology and Risk Factors
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23 min
1. Coronary heart disease epidemiology: global context for a new genetic understanding- Prof. Harry Hemingway
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44 min
2. Cardiovascular risk factors- Dr. Michal Vrablik
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65 min
3. Lipoproteins- Prof. Arnold von Eckardstein
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39 min
4. Thrombotic risk factors for cardiovascular disease- Prof. Gordon Lowe
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20 min
5. Lipoprotein(a)- Dr. Jaimini Cegla
- Biology of Coronary Heart Disease
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42 min
6. Plaque rupture- Prof. Petri Kovanen
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56 min
7. Transcription factors and complex disease development- Dr. Ines Pineda-Torra
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39 min
8. Animal models to explore cardiovascular disease- Prof. Martin Merkel
- Treatment
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26 min
9. Diagnosis and treatment of dyslipidemias- Prof. Anton Stalenhoef
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31 min
10. Key drug discovery challenges in cardiovascular medicine- Dr. Dan Swerdlow
- Dr. Michael V. Holmes
- Genetics
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50 min
11. Moving from GWAS hits to functional variants- Prof. Steve Humphries
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51 min
12. Heart disease genes and SNPs- Prof. Steve Humphries
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39 min
13. Familial hypercholesterolaemia: genetic causes and treatment- Prof. Steve Humphries
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22 min
14. Familial hypercholesterolaemia: cascade testing and monogenic vs. polygenic causes- Prof. Steve Humphries
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28 min
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52 min
16. Genetics of cardiovascular disease- Prof. Philippa Talmud
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54 min
17. The genetics of CHD: moving research findings into patient benefit- Prof. Steve Humphries
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35 min
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33 min
19. The genetics of abdominal aortic aneurysm- Dr. Seamus Harrison
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49 min
20. Genome scans for hypertension- Prof. Patricia Munroe
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43 min
21. Telomeres and cardiovascular disease- Dr. Jess Buxton
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33 min
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26 min
23. Genetics of hypertrophic cardiomyopathy (HCM)- Dr. Petros Syrris
- Archived Lectures *These may not cover the latest advances in the field
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44 min
24. Gene-environment interaction and oxidative stress in cardiovascular disease- Dr. Jeffrey Stephens
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34 min
25. Gene therapy as a therapeutic option for lipoprotein lipase deficiency- Dr. Jan Albert Kuivenhoven
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60 min
26. Cardiovascular diseases: from epidemiology to nutritional interventions- Dr. Antonis Zampelas
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45 min
27. Genetic testing for CHD risk: fact or fiction?- Prof. Steve Humphries
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35 min
28. Pharmacogenetics: progress, pitfalls and clinical potential- Prof. Steve Humphries
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50 min
29. Familial hyperchlolesterolaemia: a monogenic cause of early CHD- Prof. Steve Humphries
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29 min
30. Lipid metabolism- Dr. Ulrike Beisiegel
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 March 14, 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.
