Y. Dana Neugut, MD, MS; Sumit Mohan, MD, MPH; Ali G. Gharavi, MD; Krzysztof Kiryluk, MD, MS
Disclaimer: The content is solely the responsibility of the authors and does not represent the official views of the National Institutes of Health (NIH).
Acknowledgment: The authors thank Dr. Iuliana Ionita-Laza from the Department of Biostatistics, Mailman School of Public Health, Columbia University, for verifying the familial risk calculations in the Table.
Grant Support: This work was supported by the Columbia Precision Medicine Initiative, Columbia University, as well as the following NIH grants: Columbia Clinical and Translational Science Award grant UL1TR001873 from the National Center for Advancing Translational Sciences (NCATS), Electronic Medical Records and Genomics (eMERGE) Network grant U01HG8680 from the National Human Genome Research Institute (NHGRI), APOL1 Long-Term Kidney Transplantation Outcomes Network (APOLLO) grant U01DK116066, Columbia Kidney Precision Medicine Project (KPMP) grant UG3DK114926, and training supplement T32-DK108741-02S1 from the National Institute of Diabetes and Digestive Kidney Diseases (NIDDK).
Disclosures: Dr. Mohan reports grants from the NIH/NIDDK during the conduct of the study and personal fees from Bravado Health, Angion Pharmaceuticals, and Jazz Pharma outside the submitted work. Dr. Gharavi reports grants from the NIH/NIDDK during the conduct of the study and grants from the Renal Research Institute and AstraZeneca outside the submitted work. Dr. Kiryluk reports grants from the NIH, NCATS, NHGRI, and NIDDK during the conduct of the study. Disclosures can also be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M19-1389.
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: Krzysztof Kiryluk, MD, MS, 1150 St. Nicholas Avenue, Russ Berrie Room 412E, New York, NY 10032; e-mail, firstname.lastname@example.org.
Current Author Addresses: Drs. Neugut and Mohan: 622 West 168th Street, PH4-124, New York, NY 10032.
Dr. Gharavi: 1150 St. Nicholas Avenue, Russ Berrie Room 412, New York, NY 10032.
Dr. Kiryluk: 1150 St. Nicholas Avenue, Russ Berrie Room 412E, New York, NY 10032.
Author Contributions: Conception and design: Y.D. Neugut, K. Kiryluk.
Analysis and interpretation of the data: Y.D. Neugut.
Drafting of the article: Y.D. Neugut, S. Mohan, A.G. Gharavi, K. Kiryluk.
Critical revision for important intellectual content: Y.D. Neugut, S. Mohan, K. Kiryluk.
Final approval of the article: Y.D. Neugut, S. Mohan, A.G. Gharavi, K. Kiryluk.
Statistical expertise: Y.D. Neugut.
Obtaining of funding: Y.D. Neugut, A.G. Gharavi, K. Kiryluk.
Administrative, technical, or logistic support: Y.D. Neugut.
Collection and assembly of data: Y.D. Neugut.
This article discusses potential indications for genetic testing in an African American patient with chronic kidney disease who is being evaluated for a kidney transplant. Two known risk variants in the APOL1 (apolipoprotein L1) gene predispose to kidney disease and are found almost exclusively in persons of African ancestry. APOL1 risk variants are considered, including whether clinicians should incorporate genetic testing in the screening process for living kidney donors. In addition to APOL1 testing, the role of diagnostic exome sequencing in evaluating potential transplant recipients and donors with a positive family history of kidney disease is discussed.
Neugut YD, Mohan S, Gharavi AG, et al. Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant. Ann Intern Med. 2019;171:659–664. [Epub ahead of print 8 October 2019]. doi: https://doi.org/10.7326/M19-1389
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Published: Ann Intern Med. 2019;171(9):659-664.
Published at www.annals.org on 8 October 2019
Chronic Kidney Disease, Nephrology, Prevention/Screening, Renal Replacement Therapy.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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