How does genetic testing help doctors treat patients? How accurate are private companies like 23andMe? Does knowing your genetic risk help people lead healthier lives or is it just a waste of time and money? Sophie had a bunch of questions about how genetic testing is used in everyday medical practice and Chris was here to answer!
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Editor: Robyn Flynn
Theme music: “Fall of the Ocean Queen“ by Joseph Hackl
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Obviously, Chris is not your doctor (probably). This podcast is not medical advice for you; it is what we call information.
References:
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Studies evaluating the accuracy of Direct to Consumer genetic testing companies:
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Ng PC, Murray SS, Levy S, Venter JC. An agenda for personalized medicine. Nature. 2009 Oct 8;461(7265):724-6. doi: 10.1038/461724a. PMID: 19812653.
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Imai K, Kricka LJ, Fortina P. Concordance study of 3 direct-to-consumer genetic-testing services. Clin Chem. 2011 Mar;57(3):518-21. doi: 10.1373/clinchem.2010.158220.
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Studies looking at how knowing the results of genetic testing affect medical treatment and lifestyle factors.
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Mega JL, 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 Jun 6;385(9984):2264-2271. doi: 10.1016/S0140-6736(14)61730-X
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Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, Chasman DI, Baber U, Mehran R, Rader DJ, Fuster V, Boerwinkle E, Melander O, Orho-Melander M, Ridker PM, Kathiresan S. Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med. 2016 Dec 15;375(24):2349-2358. doi: 10.1056/NEJMoa1605086.
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The Cochrane review and MI-GENES study which showed that genetic information did not change lifestyle behavior
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Hollands GJ, French DP, Griffin SJ, Prevost AT, Sutton S, King S, Marteau TM. The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis. BMJ. 2016 Mar 15;352:i1102. doi: 10.1136/bmj.i1102.
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Kullo IJ, 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 Mar 22;133(12):1181-8. doi: 10.1161/CIRCULATIONAHA.115.020109
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