A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine

被引：2

作者：

Crouse, Andrew ^{[2
]}

Nadkarni, Girish ^{[1
,3
,4
,5
]}

Might, Matthew ^{[6
,7
]}

Jayaraman, Pushkala

机构：

[1] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA

[2] Univ Alabama Birmingham, Hugh Kaul Precis Med Inst, Birmingham, AL USA

[3] Icahn Sch Med Mt Sinai, Mt Sinai Clin Intelligence Ctr MSCIC, New York, NY 10029 USA

[4] Icahn Sch Med Mt Sinai, Dept Med, Div Data Driven & Digital Med, New York, NY USA

[5] Icahn Sch Med Mt Sinai, Dept Med, Barbara T Murphy Div Nephrol, New York, NY USA

[6] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

[7] Univ Alabama Birmingham, Dept Comp Sci, Birmingham, AL USA

来源：

KIDNEY360 | 2023年 / 4卷 / 04期

关键词：

genetics; artificial intelligence; data science; precision medicine; precision nephrology; INTERNATIONAL IGA NEPHROPATHY; DECEASED DONOR KIDNEYS; OXFORD CLASSIFICATION; APOLIPOPROTEIN L1; APOL1; VARIANTS; RENAL-DISEASE; MANAGEMENT; INJURY; TRANSPLANTATION; PREDICTION;

D O I：

10.34067/KID.0000000000000089

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

This year marks the 63rd anniversary of the International Society of Nephrology, which signaled nephrology's emergence as a modern medical discipline. In this article, we briefly trace the course of nephrology's history to show a clear arc in its evolution-of increasing resolution in nephrological data-an arc that is converging with computational capabilities to enable precision nephrology. In general, precision medicine refers to tailoring treatment to the individual characteristics of patients. For an operational definition, this tailoring takes the form of an optimization, in which treatments are selected to maximize a patient's expected health with respect to all available data. Because modern health data are large and high resolution, this optimization process requires computational intervention, and it must be tuned to the contours of specific medical disciplines. An advantage of this operational definition for precision medicine is that it allows us to better understand what precision medicine means in the context of a specific medical discipline. The goal of this article was to demonstrate how to instantiate this definition of precision medicine for the field of nephrology. Correspondingly, the goal of precision nephrology was to answer two related questions: (1) How do we optimize kidney health with respect to all available data? and (2) How do we optimize general health with respect to kidney data?

引用

页码：E544 / E554

页数：11

共 122 条

[1] Race, science and (im)precision medicine [J].

Adigbli, George .

NATURE MEDICINE, 2020, 26 (11) :1675-1676

[2] Lessons learned from a multidisciplinary renal genetics clinic [J].

Alkanderi, S. ;

Yates, L. M. ;

Johnson, S. A. ;

Sayer, J. A. .

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2017, 110 (07) :453-457

[3]

All of Us Research Program Overview, 2020, National Institutes of Health (NIH)-All of Us

[4] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[5] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[6] An integrated map of genetic variation from 1,092 human genomes [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Schmidt, Jeanette P. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Dinh, Huyen ;

Kovar, Christie ;

Lee, Sandra ;

Lewis, Lora ;

Muzny, Donna ;

Reid, Jeff ;

Wang, Min ;

Wang, Jun ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Li, Zhuo ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Su, Zhe ;

Tai, Shuaishuai ;

Tang, Meifang .

NATURE, 2012, 491 (7422) :56-65

[7] Understanding acute kidney injury in low resource settings: a step forward [J].

Anand, Shuchi ;

Cruz, Dinna N. ;

Finkelstein, Fredric O. .

BMC Nephrology, 2015, 16

[8]

[Anonymous], Tolvaptan-an overview | ScienceDirect Topics

[9]

[Anonymous], GEN AGGR DAT GNOMAD

[10]

[Anonymous], Discrimination by Artificial Intelligence in a Commercial Electronic Health Record-A Case Study | Health Affairs Forefront, DOI [10.1377/forefront.20200128.626576/full/, DOI 10.1377/FOREFRONT.20200128.626576/FULL]

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