Randomized trial of personal genomics for preventive cardiology: Design and challenges

Circulation: Cardiovascular Genetics

Volumn 5, Issue 3, 2012, Pages 368-376

  Knowles, Joshua W ^a   Assimes, Themistocles L ^a   Kiernan, Michaela ^b   Pavlovic, Aleksandra ^a   Goldstein, Benjamin A ^b   Yank, Veronica ^b   McConnell, Michael V ^a   Absher, Devin ^c   Bustamante, Carlos ^b   Ashley, Euan A ^a   Ioannidis, John P A ^b,d  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^d STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARDIOLOGY; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; GENETIC EPIDEMIOLOGY; GENETIC RISK; GENOMICS; HUMAN; PERSONAL GENOMICS; PERSONALIZED MEDICINE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK ASSESSMENT;

CARDIOVASCULAR DISEASES; CLINICAL TRIALS AS TOPIC; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84864631545     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.962746     Document Type: Article

References (64)

1. Austin JH. Chase, Chance and Creativity. Boston, MA: The MIT Press; 2003.
2. Thorwald J. The Century of the Surgeon. New York, NY: Pantheon Books; 1957.
3. Cannon WB. ''Voodoo'' death. American Anthropologist. 1942;44:169Y181.
4. Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009;41:677-687.
5. Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316:889-894.
6. Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, et al. Association analyses of 249 796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42:937-948.
7. Tobacco and Genetics Consortium. Genome-wide meta-analyses identify multiple loci associated with smoking behavior. Nat Genet. 42:441-447.
8. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445:881-885.
9. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research, Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331-1336.
10. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341-1345.
11. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007;39:770-775.
12. Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008;40:638-645.
13. Wellcome Trust Case Control Consortium. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature. 2007;447:661-678.
14. Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, et al; WTCCC and the Cardiogenics Consortium. Genomewide association analysis of coronary artery disease. N Engl J Med. 2007;357: 443-453.
15. McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-1491.
16. Helgadottir A, Thorleifsson G, Manolescu A, Gretarsdottir S, Blondal T, Jonasdottir A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-1493.
17. Saleheen D, Alexander M, Rasheed A, Wormser D, Soranzo N, Hammond N, et al. Association of the 9p21.3 locus with risk of first-ever myocardial infarction in Pakistanis: case-control study in South Asia and updated meta-analysis of Europeans. Arterioscler Thromb Vasc Biol. 2010;30:1467-1473.
18. Shen GQ, Li L, Rao S, Abdullah KG, Ban JM, Lee BS, et al. Four SNPs on chromosome 9p21 in a South Korean population implicate a genetic locus that confers high cross-race risk for development of coronary artery disease. Arterioscler Thromb Vasc Biol. 2008;28:360-365.
19. Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, Benjamin EJ, et al. Genome-wide association study of coronary heart disease and its risk factors in 8090 African Americans: the NHLBI care project. PLoS Gen. 2011;7:e1001300.
20. Coronary Artery Disease (C4D) Genetics Consortium. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. Nat Genet. 2011;43:339-344.
21. Schunkert H, Konig IR, Kathiresan S, Reilly MP, Assimes TL, Holm H, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43:333-338.
22. Erdmann J, Grosshennig A, Braund PS, Konig IR, Hengstenberg C, Hall AS, et al. New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet. 2009;41:280-282.
23. Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet. 2009;41:334-341.
24. Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, et al. Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med. 2008;358:1240-1249.
25. Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet. 2010;376: 1393-1400.
26. Paynter NP, Chasman DI, Pare G, Buring JE, Cook NR, Miletich JP, Ridker PM. Association between a literature-based genetic risk score and cardiovascular events in women. JAMA. 2010;303:631-637.
27. Umans-Eckenhausen MA, Defesche JC, van Dam MJ, Kastelein JJ. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch Intern Med. 2003;163: 65-68.
28. D'Agostino RB Sr, Vasan RS, Pencina MJ, Wolf PA, Cobain M, Massaro JM, Kannel WB. General cardiovascular risk profile for use in primary care: the Framingham Heart Study. Circulation. 2008;117:743-753.
29. Pencina MJ, D'Agostino RB Sr, Larson MG, Massaro JM, Vasan RS. Predicting the 30-year risk of cardiovascular disease: the Framingham Heart Study. Circulation. 2009;119:3078-3084.
30. National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III).Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation. 2002;106:3143-3421.
31. Wood D, De Backer G, Faergeman O, Graham I, Mancia G, Pyörälä K. Prevention of coronary heart disease in clinical practice: recommen-dations of the Second Joint Task Force of European and Other Societies on Coronary Prevention. Atherosclerosis. 1998;140:199-270.
32. U.S. Preventive Services Task Force. Aspirin for the primary prevention of cardiovascular events: recommendation and rationale. Ann Intern Med. 2002;136:157-160.
33. Erbel R, Mohlenkamp S, Moebus S, Schmermund A, Lehmann N, Stang A, et al; Heinz Nixdorf Recall Study Investigative Group. Coronary risk stratification, discrimination, and reclassification improvement based on quantification of subclinical coronary atherosclerosis: the Heinz Nixdorf Recall study. J Am Coll Cardiol. 2010;56:1397-1406.
34. Greenland P, Smith SC Jr, Grundy SM. Improving coronary heart disease risk assessment in asymptomatic people: role of traditional risk factors and noninvasive cardiovascular tests. Circulation. 2001;104:1863-1867.
35. Forrester JS. Redefining normal low-density lipoprotein cholesterol: a strategy to unseat coronary disease as the nation's leading killer. J Am Coll Cardiol. 2010;56:630-636.
36. Steinberg D. Earlier intervention in the management of hypercholesterolemia: what are we waiting for? J Am Coll Cardiol. 2010;56:627-629.
37. Lloyd-Jones DM. Cardiovascular risk prediction: basic concepts, current status, and future directions. Circulation. 2010;121:1768-1777.
38. Lloyd-Jones DM, Leip EP, Larson MG, D'Agostino RB, Beiser A, Wilson PW, Wolf PA, Levy D. Prediction of lifetime risk for cardiovascular disease by risk factor burden at 50 years of age. Circulation. 2006;113:791-798.
39. Ntzani EE, Liberopoulos G, Manolio TA, Ioannidis JP. Consistency of genome-wide associations across major ancestral groups. Hum Genet. 2011 Dec 20.
40. Grundy SM, Cleeman JI, Merz CN, Brewer HB Jr, Clark LT, Hunninghake DB, et al; National Heart, Lung, and Blood Institute; American College of Cardiology Foundation; American Heart Association.. Implications of recent clinical trials for the National Cholesterol Education Program Adult Treatment Panel III guidelines. Circulation. 2004;110: 227-239.
41. Greenland P, Alpert JS, Beller GA, Benjamin EJ, Budoff MJ, Fayad ZA, et al; American College of Cardiology Foundation/ American HeartAsscoiation Tasl Force on Practice Guidelines. 2010 ACCF/AHA guideline for assessment of cardiovascular risk in asymptomatic adults: executive summary: a report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines. Circulation. 2010;122:2748-2764.
42. The ARIC Investigators. The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am J Epidemiol. 1989;129:687-702.
43. Psaty BM, O'Donnell CJ, Gudnason V, Lunetta KL, Folsom AR, Rotter JI, et al; CHARGE Consortium. Cohorts for heart and aging research in genomic epidemiology (charge) consortium: design of prospective metaanalyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet. 2009;2:73-80.
44. Kiernan M, Schoffman DE, Lee K, Moore S, Fair J, Taylor-Piliae R, et al. Using the Stanford Leisure-Time Activity Categorical Item (L-CAT) to assess changes in leisure-time activity among obese women. Ann Behav Med. 2011;41:S187.
45. Paxton AE, Strycker LA, Toobert DJ, Ammerman AS, Glasgow RE. Starting the conversation performance of a brief dietary assessment and intervention tool for health professionals. Am J Prev Med. 2011;40: 67-71.
46. Kalichman SC, Amaral CM, Swetzes C, Jones M, Macy R, Kalichman MO, et al. A simple single-item rating scale to measure medication adherence: further evidence for convergent validity. J Int Assoc Physicians AIDS Care (Chic). 2009;8:367-374.
47. Horne R, Weinman J. Patients' beliefs about prescribed medicines and their role in adherence to treatment in chronic physical illness. J Psychosom Res. 1999;47:555-567.
48. Kreuter MW, Strecher VJ. Changing inaccurate perceptions of health risk: results from a randomized trial. Health Psychol. 1995;14:56-63.
49. Strecher VJ, Kreuter MW, Kobrin SC. Do cigarette smokers have unrealistic perceptions of their heart attack, cancer, and stroke risks? J Behav Med. 1995;18:45-54.
50. Prochaska JO, DiClemente CC. Stages and processes of self-change of smoking: toward an integrative model of change. J Consult Clin Psychol. 1983;51:390-395.
51. Miller ANR. The CaReS battery: measuring stages of change in cardiac rehabilitation through the development of a targeted instrument. Kent State. Master's Thesis. Psychology. 2010.
52. Watson EK, Henderson BJ, Brett J, Bankhead C, Austoker J. The psychological impact of mammographic screening on women with a family history of breast cancer-a systematic review. Psychooncology. 2005; 14:939-948.
53. Meisel SF, Walker C, Wardle J. Psychological responses to genetic testing for weight gain: a vignette study. Obesity (Silver Spring). 2012; 20:540-546.
54. Cameron LD, Sherman KA, Marteau TM, Brown PM. Impact of genetic risk information and type of disease on perceived risk, anticipated affect, and expected consequences of genetic tests. Health Psychol. 2009;28: 307-316.
55. Shepherd J, Cobbe SM, Ford I, Isles CG, Lorimer AR, MacFarlane PW, McKillop JH, Packard CJ. Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia. West of Scotland Coronary Prevention Study Group. N Engl J Med. 1995;333:1301-1307.
56. Downs JR, Clearfield M, Weis S, Whitney E, Shapiro DR, Beere PA, Gotto AM. Primary prevention of acute coronary events with lovastatin in men and women with average cholesterol levels: results of AFCAPS/ TexCAPS. Air Force/Texas Coronary Atherosclerosis Prevention Study. JAMA. 1998;279:1615-1622.
57. Ioannidis JP. Prediction of cardiovascular disease outcomes and established cardiovascular risk factors by genome-wide association markers. Circ Cardiovasc Genet. 2009;2:7-15.
58. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP working group: genomic profiling to assess cardiovascular risk to improve cardiovascular health. Genet Med. 2010;12:839-843.
59. Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med. 2011;364: 524-534.
60. Grant RW, Meigs JB, Florez JC, Park ER, Green RC, Waxler JL, et al. Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention. Clin Trials. 2011;8:609-615.
61. Rosamond W, Flegal K, Friday G, Furie K, Go A, Greenlund K, et al; American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart disease and stroke statistics-2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation. 2007;115:e69.
62. Nelson HD, Tyne K, Naik A, Bougatsos C, Chan BK, Humphrey L. Screening for breast cancer: an update for the U.S. Preventive Services Task Force. Ann Intern Med. 2009;151:727-737, W237-W742.
63. Korcarz CE, DeCara JM, Hirsch AT, Mohler ER, Pogue B, Postley J, et al. Ultrasound detection of increased carotid intima-media thickness and carotid plaque in an office practice setting: does it affect physician behavior or patient motivation? J Am Soc Echocardiogr. 2008;21: 1156-1162.
64. Kalia NK, Miller LG, Nasir K, Blumenthal RS, Agrawal N, Budoff MJ. Visualizing coronary calcium is associated with improvements in adherence to statin therapy. Atherosclerosis. 2006;185:394-399.