Michael G. Artin, BA; Deborah Stiles, JD; Krzysztof Kiryluk, MD, MS; Wendy K. Chung, MD, PhD
Disclaimer: The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Grant Support: By the National Center for Advancing Translational Sciences of the National Institutes of Health through grant number UL1TR001873. Dr. Kiryluk was supported by grant number UG3DK114926 from the National Institute of Diabetes and Digestive and Kidney Diseases through the Kidney Precision Medicine Project. Drs. Kiryluk and Chung were supported by grant number U01HG008680 from the National Human Genome Research Institute.
Disclosures: Authors have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M18-2356.
Editors' Disclosures: Christine Laine, MD, MPH, Editor in Chief, reports that her spouse has stock options/holdings with Targeted Diagnostics and Therapeutics. Darren B. Taichman, MD, PhD, Executive Editor, reports that he has no financial relationships or interests to disclose. Cynthia D. Mulrow, MD, MSc, Senior Deputy Editor, reports that she has no relationships or interests to disclose. Jaya K. Rao, MD, MHS, Deputy Editor, reports that she has stock holdings/options in Eli Lilly and Pfizer. Catharine B. Stack, PhD, MS, Deputy Editor, Statistics, reports that she has stock holdings in Pfizer, Johnson & Johnson, and Colgate-Palmolive. Christina C. Wee, MD, MPH, Deputy Editor, reports employment with Beth Israel Deaconess Medical Center. Sankey V. Williams, MD, Deputy Editor, reports that he has no financial relationships or interests to disclose. Yu-Xiao Yang, MD, MSCE, Deputy Editor, reports that he has no financial relationships or interest to disclose.
Corresponding Author: Wendy K. Chung, MD, PhD, Columbia University, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032; e-mail, firstname.lastname@example.org.
Current Author Addresses: Mr. Artin, Ms. Stiles, and Drs. Kiryluk and Chung: Columbia University, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032.
Author Contributions: Conception and design: M.G. Artin, D. Stiles, K. Kiryluk, W.K. Chung.
Drafting of the article: M.G. Artin, D. Stiles, W.K. Chung.
Critical revision of the article for important intellectual content: D. Stiles, K. Kiryluk, W.K. Chung.
Final approval of the article: M.G. Artin, D. Stiles, K. Kiryluk, W.K. Chung.
Obtaining of funding: K. Kiryluk, W.K. Chung.
Administrative, technical, or logistic support: M.G. Artin, W.K. Chung.
Collection and assembly of data: M.G. Artin.
A couple is planning to start a family, and they decide to order a 23andMe test after reading about the company's carrier screening test and the new BRCA1/BRCA2 test. They bring the results to their internist for advice on how to proceed. Given the rise in public interest in human genetics and precision medicine, direct-to-consumer genetic testing is becoming increasingly popular, and clinicians should expect patients to present the results of these tests more frequently. This article uses a case scenario to provide information about what the results of these tests mean, and what they do not mean.
Artin MG, Stiles D, Kiryluk K, et al. Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results. Ann Intern Med. 2019;170:643–650. [Epub ahead of print 30 April 2019]. doi: https://doi.org/10.7326/M18-2356
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Published: Ann Intern Med. 2019;170(9):643-650.
Published at www.annals.org on 30 April 2019
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