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Editorial

An update on genetic risk scores for coronary artery disease: are they useful for predicting disease risk and guiding clinical decisions?

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Pages 443-447 | Received 11 Mar 2020, Accepted 08 Jul 2020, Published online: 09 Aug 2020

References

  • Erdmann J, Kessler T, Munoz Venegas L, et al. A decade of genome-wide association studies for coronary artery disease: the challenges ahead. Cardiovasc Res. 2018;114(9):1241–1257.
  • Schunkert H, Erdmann J, Samani NJ. Genetics of myocardial infarction: a progress report. Eur Heart J. 2010;31(8):918–925.
  • The International Schizophrenia Consortium. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460(7256):748–752.
  • Prive F, Vilhjalmsson BJ, Aschard H, et al. Making the most of clumping and thresholding for polygenic scores. Am J Hum Genet. 2019;105(6):1213–1221.
  • Ripatti S, Tikkanen E, Orho-Melander M, et al. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet. 2010;376(9750):1393–1400.
  • Vilhjalmsson BJ, Yang J, Finucane HK, et al. Modeling linkage disequilibrium increases accuracy of polygenic risk scores. Am J Hum Genet. 2015;97(4):576–592.
  • Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219–1224.
  • Inouye M, Abraham G, Nelson CP, et al. Genomic risk prediction of coronary artery disease in 480,000 adults: implications for primary prevention. J Am Coll Cardiol. 2018;72(16):1883–1893.
  • Abraham G, Havulinna AS, Bhalala OG, et al. Genomic prediction of coronary heart disease. Eur Heart J. 2016;37(43):3267–3278.
  • Janssens A, Joyner MJ. Polygenic risk scores that predict common diseases using millions of single nucleotide polymorphisms: is more, better? Clin Chem. 2019;65(5):609–611.
  • Elliott J, Bodinier B, Bond TA, et al. Predictive accuracy of a polygenic risk score-enhanced prediction model vs a clinical risk score for coronary artery disease. JAMA. 2020;323(7):636–645.
  • Mosley JD, Gupta DK, Tan J, et al. Predictive accuracy of a polygenic risk score compared with a clinical risk score for incident coronary heart disease. JAMA. 2020;323(7):627–635.
  • Goff DC Jr., Lloyd-Jones DM, Bennett G, et al. 2013 ACC/AHA guideline on the assessment of cardiovascular risk: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation. 2014;129(25 Suppl 2):S49–S73.
  • Levin MG, Rader DJ. Polygenic risk scores and coronary artery disease: ready for prime time? Circulation. 2020;141(8):637–640.
  • Arnett DK, Blumenthal RS, Albert MA, et al. ACC/AHA guideline on the primary prevention of cardiovascular disease: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. J Am Coll Cardiol. 2019;74(10):1376–1414.
  • Khan SS, Cooper R, Greenland P. Do polygenic risk scores improve patient selection for prevention of coronary artery disease? JAMA. 2020;323(7):614–615.
  • Khera AV, Emdin CA, Drake I, et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N Engl J Med. 2016;375(24):2349–2358.
  • Fang J, Gong C, Wan Y, et al. Polygenic risk, adherence to a healthy lifestyle, and childhood obesity. Pediatr Obes. 2019;14(4):e12489.
  • Duncan L, Shen H, Gelaye B, et al. Analysis of polygenic risk score usage and performance in diverse human populations. Nat Commun. 2019;10(1):3328.
  • Martin AR, Kanai M, Kamatani Y, et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51(4):584–591.
  • Mega JL, Stitziel NO, Smith JG, et al. Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials. Lancet. 2015;385(9984):2264–2271.
  • Natarajan P, Young R, Stitziel NO, et al. Polygenic risk score identifies subgroup with higher burden of atherosclerosis and greater relative benefit from statin therapy in the primary prevention setting. Circulation. 2017;135(22):2091–2101.
  • Marston NA, Kamanu FK, Nordio F, et al. Predicting benefit from evolocumab therapy in patients with atherosclerotic disease using a genetic risk score: results from the FOURIER trial. Circulation. 2020;141(8):616–623.
  • Damask A, Steg PG, Schwartz GG, et al. Patients with high genome-wide polygenic risk scores for coronary artery disease may receive greater clinical benefit from alirocumab treatment in the ODYSSEY OUTCOMES trial. Circulation. 2020;141(8):624–636.
  • Emdin CA, Bhatnagar P, Wang M, et al. Genome-wide polygenic score and cardiovascular outcomes with evacetrapib in patients with high-risk vascular disease: a nested case-control study. Circ Genom Precis Med. 2020;13(1):e002767.
  • Knowles JW, Zarafshar S, Pavlovic A, et al. Impact of a genetic risk score for coronary artery disease on reducing cardiovascular risk: a pilot randomized controlled study. Front Cardiovasc Med. 2017;4:53.
  • Kullo IJ, Jouni H, Austin EE, et al. Incorporating a genetic risk score into coronary heart disease risk estimates: effect on low-density lipoprotein cholesterol levels (the MI-GENES clinical trial). Circulation. 2016;133(12):1181–1188.
  • ASHG Executive Committee. Prohibiting genetic discrimination to promote science, health, and fairness. Am J Hum Genet. 2019;104(1):6–7.
  • No authors listed. What is genetic discrimination. [cited 2020 Feb 7]. Available from: https://ghr.nlm.nih.gov/primer/testing/discrimination.
  • Kilbride MK. When variants are reclassified—the importance of personalized communication. Nat Med. 2020;26(1):15.
  • Manrai AK, Funke BH, Rehm HL, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375(7):655–665.
  • Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 2020;12(1):44.

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