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After checking your cholesterol, hemoglobin A1C, and glucose level during your annual wellness check, your primary care phycisian says: ‘It looks like we haven’t done your genome. Why don’t we do that?’ How would you respond? If you have a genetic mutation that increases your risk for a treatable medical condition, would you want to know? For many people the answer is yes. But typically, such information has not been a part of routine primary care.

In this episode Peter Hofland Ph.D., talks with Noelle Carbognin and Elizabeth Chao, MD, FACMG, a Medical Geneticist at UC Irvine about about Lynch Syndrome, a type of inherited cancer syndrome associated with a genetic predisposition to different cancer types, including Colorectal cancer and about various aspects of genetic testing, new technologies, including next generation sequencing technology, and the potential future possibilities and benefits of genetic testing in preventing disease.[1][2]

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Reference
[1] Espenschied CR, LaDuca H, Li S, McFarland R, Gau CL, Hampel H. Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. J Clin Oncol. 2017 Aug 1;35(22):2568-2575. doi: 10.1200/JCO.2016.71.9260. Epub 2017 May 17. PMID: 28514183; PMCID: PMC7186580.
[2] Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900. PMID: 31642931; PMCID: PMC6820040.

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Featured image: Patient and patient advocate, Photo courtesy: ©2016 – 2022. Fotolia/Adobe. Used with permission.

 

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