A longitudinal big data approach for precision health

被引:300
作者
Rose, Sophia Miryam Schussler-Fiorenza [1 ,2 ,3 ]
Contrepois, Kevin [1 ]
Moneghetti, Kegan J. [4 ,5 ,6 ]
Zhou, Wenyu [1 ]
Mishra, Tejaswini [1 ]
Mataraso, Samson [7 ,8 ]
Dagan-Rosenfeld, Orit [1 ]
Ganz, Ariel B. [1 ]
Dunn, Jessilyn [1 ,9 ]
Hornburg, Daniel [1 ]
Rego, Shannon [1 ]
Perelman, Dalia [1 ]
Ahadi, Sara [1 ]
Sailani, M. Reza [1 ]
Zhou, Yanjiao [10 ,11 ]
Leopold, Shana R. [10 ]
Chen, Jieming [12 ,13 ]
Ashland, Melanie [1 ]
Christle, Jeffrey W. [4 ,5 ]
Avina, Monika [1 ]
Limcaoco, Patricia [1 ]
Ruiz, Camilo [14 ]
Tan, Marilyn [15 ]
Butte, Atul J. [12 ,13 ]
Weinstock, George M. [10 ]
Slavich, George M. [16 ,17 ]
Sodergren, Erica [10 ]
McLaughlin, Tracey L. [15 ]
Haddad, Francois [4 ,5 ]
Snyder, Michael P. [1 ,4 ]
机构
[1] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA
[2] Vet Affairs Palo Alto Hlth Care Syst, Spinal Cord Injury Serv, Palo Alto, CA USA
[3] Stanford Univ, Sch Med, Dept Neurosurg, Stanford, CA USA
[4] Stanford Univ, Stanford Cardiovasc Inst, Stanford, CA 94305 USA
[5] Stanford Univ, Sch Med, Dept Med, Div Cardiovasc Med, Stanford, CA 94305 USA
[6] Univ Melbourne, St Vincents Hosp, Dept Med, Melbourne, Vic, Australia
[7] Univ Calif Berkeley, Dept Elect Engn & Comp Sci, Berkeley, CA 94720 USA
[8] Univ Calif Berkeley, Dept Bioengn, Berkeley, CA 94720 USA
[9] Stanford Univ, Mobilize Ctr, Stanford, CA 94305 USA
[10] Jackson Lab Genom Med, Farmington, CT USA
[11] Univ Connecticut Hlth, Dept Med, Farmington, CT USA
[12] Univ Calif San Francisco, Bakar Computat Hlth Sci Inst, San Francisco, CA 94143 USA
[13] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
[14] Stanford Univ, Dept Bioengn, Stanford, CA 94305 USA
[15] Stanford Univ, Sch Med, Div Endocrinol, Stanford, CA USA
[16] Univ Calif Los Angeles, Cousins Ctr Psychoneuroimmunol, Los Angeles, CA USA
[17] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA
基金
美国国家卫生研究院; 瑞士国家科学基金会;
关键词
CORONARY-HEART-DISEASE; BETA-CELL FUNCTION; INSULIN-RESISTANCE; AMERICAN-COLLEGE; UNDETERMINED SIGNIFICANCE; CARDIOVASCULAR-DISEASE; MONOCLONAL GAMMOPATHY; GLUCOSE-TOLERANCE; RISK PREDICTION; ARTERY CALCIUM;
D O I
10.1038/s41591-019-0414-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Precision health relies on the ability to assess disease risk at an individual level, detect early preclinical conditions and initiate preventive strategies. Recent technological advances in omics and wearable monitoring enable deep molecular and physiological profiling and may provide important tools for precision health. We explored the ability of deep longitudinal profiling to make health-related discoveries, identify clinically relevant molecular pathways and affect behavior in a prospective longitudinal cohort (n = 109) enriched for risk of type 2 diabetes mellitus. The cohort underwent integrative personalized omics profiling from samples collected quarterly for up to 8 years (median, 2.8 years) using clinical measures and emerging technologies including genome, immunome, transcriptome, proteome, metabolome, microbiome and wearable monitoring. We discovered more than 67 clinically actionable health discoveries and identified multiple molecular pathways associated with metabolic, cardiovascular and oncologic pathophysiology. We developed prediction models for insulin resistance by using omics measurements, illustrating their potential to replace burdensome tests. Finally, study participation led the majority of participants to implement diet and exercise changes. Altogether, we conclude that deep longitudinal profiling can lead to actionable health discoveries and provide relevant information for precision health.
引用
收藏
页码:792 / +
页数:24
相关论文
共 97 条
[1]   Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables [J].
Ahlqvist, Emma ;
Storm, Petter ;
Karajamaki, Annemari ;
Martinell, Mats ;
Dorkhan, Mozhgan ;
Carlsson, Annelie ;
Vikman, Petter ;
Prasad, Rashmi B. ;
Aly, Dina Mansour ;
Almgren, Peter ;
Wessman, Ylva ;
Shaat, Nael ;
Spegel, Peter ;
Mulder, Hindrik ;
Lindholm, Eero ;
Melander, Olle ;
Hansson, Ola ;
Malmqvist, Ulf ;
Lernmark, Ake ;
Lahti, Kaj ;
Forsen, Tom ;
Tuomi, Tiinamaija ;
Rosengren, Anders H. ;
Groop, Leif .
LANCET DIABETES & ENDOCRINOLOGY, 2018, 6 (05) :361-369
[2]   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-+
[3]  
[Anonymous], 2012, PREC MED BUILD KNOWL
[4]  
[Anonymous], 2018, LUMINEX MULTIPLEX AN
[5]   Specific Hepatic Sphingolipids Relate to Insulin Resistance, Oxidative Stress, and Inflammation in Nonalcoholic Steatohepatitis [J].
Apostolopoulou, Maria ;
Gordillo, Ruth ;
Koliaki, Chrysi ;
Gancheva, Sofia ;
Jelenik, Tomas ;
De Filippo, Elisabetta ;
Herder, Christian ;
Markgraf, Daniel ;
Jankowiak, Frank ;
Esposito, Irene ;
Schlensak, Matthias ;
Scherer, Philipp E. ;
Roden, Michael .
DIABETES CARE, 2018, 41 (06) :1235-1243
[6]   Technical considerations related to the minute ventilation/carbon dioxide output slope in patients with heart failure [J].
Arena, R ;
Myers, J ;
Aslam, SS ;
Varughese, EB ;
Peberdy, MA .
CHEST, 2003, 124 (02) :720-727
[7]   Hepatocyte Growth Factor Is Positively Associated With Risk of Stroke: The MESA (Multi-Ethnic Study of Atherosclerosis) [J].
Bell, Elizabeth J. ;
Larson, Nicholas B. ;
Decker, Paul A. ;
Pankow, James S. ;
Tsai, Michael Y. ;
Hanson, Naomi Q. ;
Wassel, Christina L. ;
Longstreth, W. T., Jr. ;
Bielinski, Suzette J. .
STROKE, 2016, 47 (11) :2689-2694
[8]   Xanthine oxicloreductase and cardiovascular disease: molecular mechanisms and pathophysiological implications [J].
Berry, CE ;
Hare, JM .
JOURNAL OF PHYSIOLOGY-LONDON, 2004, 555 (03) :589-606
[9]   Optimizing taxonomic classification of marker-gene amplicon sequences with QIIME 2′s q2-feature-classifier plugin [J].
Bokulich, Nicholas A. ;
Kaehler, Benjamin D. ;
Rideout, Jai Ram ;
Dillon, Matthew ;
Bolyen, Evan ;
Knight, Rob ;
Huttley, Gavin A. ;
Caporaso, J. Gregory .
MICROBIOME, 2018, 6
[10]  
Buhr S., 2018, APPLES WATCH ISNT 1