Personalized Medicine and the Power of Electronic Health Records
Open accessAbstract
Personalized medicine has largely been enabled by the integration of genomic and other data with electronic health records (EHRs) in the United States and elsewhere. Increased EHR adoption across various clinical settings and the establishment of EHR-linked population-based biobanks provide unprecedented opportunities for the types of translational and implementation research that drive personalized medicine. We review advances in the digitization of health information and the proliferation of genomic research in health systems and provide insights into emerging paths for the widespread implementation of personalized medicine.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Efforts to make clinical data in electronic health records and registries available for research mean biobanks increasingly provide access to demographic, clinical and lifestyle data from large, often multi-ethnic collections.
“Efforts to make clinical data embedded in electronic health records and registries available for research77,78 mean that biobanks increasingly provide access to a wide range of demographic, clinical and lifestyle data, captured in harmonized, systematic fashion from large, often multi-ethnic collections of individuals.”
From A brief history of human disease genetics (2020) · cites this paper as [78]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247 · see citing works
Self-citationDermatologist-level classification of skin cancer with deep neural networks
Esteva, A., Kuprel, B., Novoa, R. A., Ko, J., Swetter, S. M., Blau, H. M., & Thrun, S. (2017) · Nature · doi:10.1038/nature21056 · Cited by 14,362 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works
Gulshan, V., Peng, L., Coram, M., Stumpe, M. C., Wu, D., Narayanaswamy, A., Venugopalan, S., Widner, K., Madams, T., Cuadros, J., et al. (2016) · JAMA · doi:10.1001/jama.2016.17216 · Cited by 7,697 · see citing works
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
A New Initiative on Precision Medicine
Collins, F. S., & Varmus, H. (2015) · New England Journal of Medicine · doi:10.1056/nejmp1500523 · Cited by 5,202 · see citing works
Next-generation DNA sequencing
Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509 · see citing works
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000 · see citing works
ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516 · see citing works
Khera, A. V., Chaffin, M., Aragam, K. G., Haas, M. E., Roselli, C., Choi, S. H., Natarajan, P., Lander, E. S., Lubitz, S. A., Ellinor, P. T., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0183-z · Cited by 2,953 · see citing works
Clinical use of current polygenic risk scores may exacerbate health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0379-x · Cited by 2,831 · see citing works
Current clinical use of polygenic scores will risk exacerbating health disparities
Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2018) · doi:10.1101/441261 · Cited by 2,813 · cited 1× · see citing works
“Early applications of PRS show greater accuracy of prediction in European populations compared to other populations (Martin et al., 2019).”
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,544 · see citing works
The “Meaningful Use” Regulation for Electronic Health Records
Blumenthal, D., & Tavenner, M. (2010) · New England Journal of Medicine · doi:10.1056/nejmp1006114 · Cited by 2,059 · see citing works
Genomics is failing on diversity
Popejoy, A. B., & Fullerton, S. M. (2016) · Nature · doi:10.1038/538161a · Cited by 1,924 · see citing works
23andMe Research Team, Liu, M., Psychiatry, H. A.-I., Jiang, Y., Wedow, R., Li, Y., Brazel, D. M., Chen, F., Datta, G., Davila-Velderrain, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0307-5 · Cited by 1,896 · see citing works
Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C. M., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,646 · see citing works
ClinGen — The Clinical Genome Resource
Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmsr1406261 · Cited by 1,496 · see citing works
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391 · see citing works
Self-citationProgram, T. M. V., Evangelou, E., Warren, H. R., Mosen-Ansorena, D., Mifsud, B., Pazoki, R., Gao, H., Ntritsos, G., Dimou, N., Cabrera, C. P., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0205-x · Cited by 1,381 · see citing works
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations
Denny, J. C., Ritchie, M. D., Basford, M. A., Pulley, J. M., Bastarache, L., Brown-Gentry, K., Wang, D., Masys, D. R., Roden, D. M., & Crawford, D. C. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq126 · Cited by 1,219 · see citing works
Mega, J. L., Simon, T., Collet, J., Anderson, J. L., Antman, E. M., Bliden, K. P., Cannon, C. P., Danchin, N., Giusti, B., Gurbel, P. A., et al. (2010) · JAMA · doi:10.1001/jama.2010.1543 · Cited by 1,131 · see citing works
What makes UK Biobank special?
Collins, R. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60404-8 · Cited by 1,128 · see citing works
Chen, Z., Chen, J., Collins, R., Guo, Y., Peto, R., Wu, F., Li, L., & on behalf of the China Kadoorie Biobank (CKB) collaborative group (2011) · International Journal of Epidemiology · doi:10.1093/ije/dyr120 · Cited by 1,034 · see citing works
Scott, S. A., Sangkuhl, K., Stein, C. M., Hulot, J., Mega, J. L., Roden, D. M., Klein, T. E., Sabatine, M. S., Johnson, J. A., & Shuldiner, A. R. (2013) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2013.105 · Cited by 962 · see citing works
Pharmacogenomics in the clinic
Relling, M. V., & Evans, W. E. (2015) · Nature · doi:10.1038/nature15817 · Cited by 955 · see citing works
Charting a course for genomic medicine from base pairs to bedside
Green, E. D., & Guyer, M. S. (2011) · Nature · doi:10.1038/nature09764 · Cited by 905 · see citing works
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
Nielsen, J. B., Thorolfsdottir, R. B., Fritsche, L. G., Zhou, W., Skov, M. W., Graham, S. E., Herron, T. J., McCarthy, S., Schmidt, E. M., Sveinbjornsson, G., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0171-3 · Cited by 876 · see citing works
Genome-wide association studies of brain imaging phenotypes in UK Biobank
Elliott, L. T., Sharp, K., Alfaro-Almagro, F., Shi, S., Miller, K. L., Douaud, G., Marchini, J., & Smith, S. M. (2018) · Nature · doi:10.1038/s41586-018-0571-7 · Cited by 834 · see citing works
A Protein-Truncating <i>HSD17B13</i> Variant and Protection from Chronic Liver Disease
Abul-Husn, N. S., Cheng, X., Li, A. H., Xin, Y., Schurmann, C., Stevis, P., Liu, Y., Kozlitina, J., Stender, S., Wood, G. C., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1712191 · Cited by 831 · see citing works
Self-citationKanai, M., Akiyama, M., Takahashi, A., Matoba, N., Momozawa, Y., Ikeda, M., Iwata, N., Ikegawa, S., Hirata, M., Matsuda, K., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0047-6 · Cited by 801 · see citing works
Overview of the BioBank Japan Project: Study design and profile
Nagai, A., Hirata, M., Kamatani, Y., Muto, K., Matsuda, K., Kiyohara, Y., Ninomiya, T., Tamakoshi, A., Yamagata, Z., Mushiroda, T., et al. (2017) · Journal of Epidemiology · doi:10.1016/j.je.2016.12.005 · Cited by 739 · see citing works
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Gottesman, O., Kuivaniemi, H., Tromp, G. C., Faucett, W. A., Li, R., Manolio, T. A., Sanderson, S. C., Kannry, J. L., Zinberg, R. E., Basford, M., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.72 · Cited by 698 · see citing works
the eMERGE Team, McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., Li, R., Masys, D. R., Ritchie, M. D., et al. (2011) · BMC Medical Genomics · doi:10.1186/1755-8794-4-13 · Cited by 692 · see citing works
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017
Daly, M. B., Pilarski, R., Berry, M., Buys, S. S., Farmer, M. B., Friedman, S., Garber, J. E., Kauff, N. D., Khan, S., Klein, C. E., et al. (2016) · Journal of the National Comprehensive Cancer Network · doi:10.6004/jnccn.2017.0003 · Cited by 649 · see citing works
Hersh, W. R., Weiner, M. G., Embi, P. J., Logan, J. R., Payne, P. R. O., Bernstam, E. V., Lehmann, H. P., Hripcsak, G., Hartzog, T. H., Cimino, J. J., et al. (2013) · Medical Care · doi:10.1097/mlr.0b013e31829b1dbd · Cited by 567 · see citing works
Dewey, F. E., Murray, M. F., Overton, J. D., Habegger, L., Leader, J. B., Fetterolf, S. N., O’Dushlaine, C. T., Hout, C. V. V., Staples, J. C., Gonzaga-Jauregui, C. G., et al. (2016) · Science · doi:10.1126/science.aaf6814 · Cited by 533 · see citing works
Self-citationPreemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers
Dunnenberger, H. M., Crews, K. R., Hoffman, J. M., et al. (2014) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010814-124835 · Cited by 514 · see citing works
The Family History — More Important Than Ever
Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004) · New England Journal of Medicine · doi:10.1056/nejmsb042979 · Cited by 497 · see citing works
Inactivating Variants in <i>ANGPTL4</i> and Risk of Coronary Artery Disease
Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., Van Hout, C. V., Habegger, L., Buckler, D., Lai, K.-M. V., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1510926 · Cited by 497 · see citing works
Coding Variation in <i>ANGPTL4,</i> <i>LPL,</i> and <i>SVEP1</i> and the Risk of Coronary Disease
Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1507652 · Cited by 493 · see citing works
Berg, J. S., Khoury, M. J., & Evans, J. P. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e318220aaba · Cited by 489 · see citing works
Personalized medicine: revolutionizing drug discovery and patient care
Ginsburg, G. S. (2001) · Trends in biotechnology · doi:10.1016/s0167-7799(01)01814-5 · Cited by 457 · see citing works
Caudle, K. E., Klein, T. E., Hoffman, J. M., Müller, D. J., Whirl‐Carrillo, M., Gong, L., McDonagh, E. M., Sangkuhl, K., Thorn, C. F., Schwab, M. G., et al. (2014) · Current Drug Metabolism · doi:10.2174/1389200215666140130124910 · Cited by 453 · see citing works
Carey, D. J., Fetterolf, S. N., Davis, F. D., Faucett, W. A., Kirchner, H. L., Mirshahi, U. L., Murray, M. F., Smelser, D. T., Gerhard, G. S., & Ledbetter, D. H. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.187 · Cited by 453 · see citing works
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Turnbull, C., Scott, R. H., Thomas, E. R. A., Jones, J. L., Murugaesu, N., Boardman-Pretty, F., Halai, D., Baple, E. L., Craig, C. E. H., Hamblin, A. D., et al. (2018) · BMJ · doi:10.1136/bmj.k1687 · Cited by 446 · see citing works
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0049-4 · Cited by 445 · see citing works
Wolf, S., Crock, B. N., Ness, B. V. V., Lawrenz, F., Kahn, J., Beskow, L., Cho, M., Christman, M., Green, R., Hall, R. F., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.23 · Cited by 435 · see citing works
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science · doi:10.1126/science.aaf7000 · Cited by 425 · see citing works
Self-citationIntegrating Genomics into Healthcare: A Global Responsibility
Stark, Z., Dolman, L. I., Manolio, T. A., Ozenberger, B., Hill, S. L., Caulfied, M. J., Lévy, Y., Glazer, D., Wilson, J., Lawler, M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.014 · Cited by 413 · see citing works
HITECH Act Drove Large Gains In Hospital Electronic Health Record Adoption
Adler‐Milstein, J., & Jha, A. K. (2017) · Health Affairs · doi:10.1377/hlthaff.2016.1651 · Cited by 397 · see citing works
Jarvik, G. P., Amendola, L. M., Berg, J. S., Brothers, K. B., Clayton, E. W., Chung, W. K., Evans, B. J., Evans, J. P., Fullerton, S. M., Gallego, C. J., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.04.009 · Cited by 369 · see citing works
Medicare and Medicaid programs; electronic health record incentive program--stage 2. Final rule.
(2010) · PubMed · Cited by 360 · see citing works
Personal Health Records: A Systematic Literature Review
Roehrs, A., da Costa, C. A., Righi, R. D. R., & Farias, K. (2017) · Journal of Medical Internet Research · doi:10.2196/jmir.5876 · Cited by 356 · see citing works
Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing
Driest, S. L. V., Shi, Y., Bowton, E., Schildcrout, J. S., Peterson, J., Pulley, J. M., Denny, J. C., & Roden, D. M. (2013) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2013.229 · Cited by 335 · see citing works
Agerbo, E., Sullivan, P. F., Vilhjálmsson, B. J., Pedersen, C. B., Mors, O., Børglum, A. D., Hougaard, D. M., Hollegaard, M. V., Meier, S., Mattheisen, M., et al. (2015) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.0346 · Cited by 319 · see citing works
Chambers, D. A., Feero, W. G., & Khoury, M. J. (2016) · JAMA · doi:10.1001/jama.2016.3867 · Cited by 313 · see citing works
Greenes, R. A. (1990) · JAMA · doi:10.1001/jama.1990.03440080092030 · Cited by 294 · see citing works
PG4KDS: A model for the clinical implementation of pre‐emptive pharmacogenetics
Hoffman, J. M., Haidar, C. E., Wilkinson, M. R., et al. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31391 · Cited by 276 · see citing works
The IGNITE network: a model for genomic medicine implementation and research
on behalf of the IGNITE Network, Weitzel, K. W., Alexander, M., Bernhardt, B. A., Calman, N., Carey, D. J., Cavallari, L. H., Field, J. R., Hauser, D., Junkins, H., et al. (2015) · BMC Medical Genomics · doi:10.1186/s12920-015-0162-5 · Cited by 251 · see citing works
Global implementation of genomic medicine: We are not alone
Manolio, T. A., Abramowicz, M. J., Al‐Mulla, F., Anderson, W. P., Balling, R., Berger, A. C., Bleyl, S. B., Chakravarti, A., Chantratita, W., Chisholm, R. L., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aab0194 · Cited by 239 · see citing works
Manickam, K., Buchanan, A. H., Schwartz, M. L. B., Hallquist, M. L. G., Williams, J. L., Rahm, A. K., Rocha, H., Savatt, J. M., Evans, A. E., Butry, L., et al. (2018) · JAMA Network Open · doi:10.1001/jamanetworkopen.2018.2140 · Cited by 208 · see citing works
Self-citationWilliams, F., & Boren, S. A. (2008) · Journal of Innovation in Health Informatics · doi:10.14236/jhi.v16i2.685 · Cited by 204 · see citing works
The BabySeq project: implementing genomic sequencing in newborns
The BabySeq Project Team, Holm, I. A., Agrawal, P. B., Ceyhan‐Birsoy, O., Christensen, K. D., Fayer, S., Frankel, L. A., Genetti, C. A., Krier, J. B., LaMay, R. C., et al. (2018) · BMC Pediatrics · doi:10.1186/s12887-018-1200-1 · Cited by 195 · see citing works
Clinical pharmacogenetics implementation: Approaches, successes, and challenges
Weitzel, K. W., Elsey, A. R., Langaee, T. Y., Burkley, B., Nessl, D. R., Obeng, A. O., Staley, B. J., Dong, H., Allan, R. W., Liu, J. F., et al. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31390 · Cited by 193 · see citing works
Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing
Knowles, J. W., Rader, D. J., & Khoury, M. J. (2017) · JAMA · doi:10.1001/jama.2017.8543 · Cited by 190 · see citing works
Rapid whole genome sequencing and precision neonatology
Petrikin, J. E., Willig, L. K., Smith, L. D., & Kingsmore, S. F. (2015) · Seminars in Perinatology · doi:10.1053/j.semperi.2015.09.009 · Cited by 188 · see citing works
Schwartz, M. L. B., McCormick, C. Z., Lazzeri, A. L., Lindbuchler, D. M., Hallquist, M. L. G., Manickam, K., Buchanan, A. H., Rahm, A. K., Giovanni, M. A., Frisbie, L. R., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.07.009 · Cited by 182 · see citing works
Integrating pharmacogenomics into electronic health records with clinical decision support
Hicks, J. K., Dunnenberger, H. M., Gumpper, K. F., Haidar, C. E., & Hoffman, J. M. (2016) · American Journal of Health-System Pharmacy · doi:10.2146/ajhp160030 · Cited by 171 · see citing works
From public health genomics to precision public health: a 20-year journey
Khoury, M. J., Bowen, M., Clyne, M., Dotson, W. D., GWINN, M. L., Green, R. F., Kolor, K., Rodriguez, J. L., Wulf, A., & Yu, W. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.211 · Cited by 168 · see citing works
Clinical research informatics: challenges, opportunities and definition for an emerging domain
Embi, P. J., & Payne, P. R. O. (2009) · Journal of the American Medical Informatics Association · doi:10.1197/jamia.m3005 · Cited by 163 · see citing works
The contribution of genetic variants to disease depends on the ruler
Witte, J. S., Visscher, P. M., & Wray, N. R. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3786 · Cited by 160 · see citing works
Amendola, L. M., Berg, J. S., Horowitz, C. R., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.08.007 · Cited by 160 · see citing works
Breast cancer risk prediction using a clinical risk model and polygenic risk score
Shieh, Y., Hu, D., Ma, L., Huntsman, S., Gard, C. C., Leung, J. W. T., Tice, J. A., Vachon, C. M., Cummings, S. R., Kerlikowske, K. M., et al. (2016) · Breast Cancer Research and Treatment · doi:10.1007/s10549-016-3953-2 · Cited by 157 · see citing works
Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Zawatsky, C. L. B., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.04.011 · Cited by 155 · see citing works
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
Vassy, J., Lautenbach, D. M., McLaughlin, H., Kong, S., Christensen, K. D., Krier, J., Kohane, I., Feuerman, L. Z., Blumenthal-Barby, J., Roberts, J., et al. (2014) · Trials · doi:10.1186/1745-6215-15-85 · Cited by 148 · see citing works
Sperber, N. R., Carpenter, J. S., Cavallari, L. H., Damschroder, L. J., Cooper‐DeHoff, R. M., Denny, J. C., Ginsburg, G. S., Guan, Y., Horowitz, C. R., Levy, K. D., et al. (2017) · BMC Medical Genomics · doi:10.1186/s12920-017-0273-2 · Cited by 140 · see citing works
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
Son, J. H., Xie, G., Yuan, C., Ena, L., Li, Z., Goldstein, A., Huang, L., Wang, L., Shen, F., Liu, H., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.05.010 · Cited by 133 · see citing works
Genomics Education for Health Care Professionals in the 21st Century
Feero, W. G., & Green, E. D. (2011) · JAMA · doi:10.1001/jama.2011.1245 · Cited by 125 · see citing works
SMART on FHIR Genomics: facilitating standardized clinico-genomic apps
Alterovitz, G., Warner, J. L., Zhang, P., et al. (2015) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocv045 · Cited by 121 · see citing works
Using Electronic Health Records To Generate Phenotypes For Research
Pendergrass, S. A., & Crawford, D. C. (2019) · Current Protocols in Human Genetics · doi:10.1002/cphg.80 · Cited by 120 · see citing works
Artificial intelligence in health care: within touching distance
Lancet, T. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31540-4 · Cited by 117 · see citing works
Williams, M. S., Buchanan, A. H., Davis, F. D., Faucett, W. A., Hallquist, M. L. G., Leader, J. B., Martin, C. L., McCormick, C. Z., Meyer, M. N., Murray, M. F., et al. (2018) · Health Affairs · doi:10.1377/hlthaff.2017.1557 · Cited by 113 · see citing works
Disease Heritability Inferred from Familial Relationships Reported in Medical Records
Polubriaginof, F. C. G., Vanguri, R. S., Quinnies, K. M., Belbin, G. M., Yahi, A., Salmasian, H., Lorberbaum, T., Nwankwo, V., Li, L., Shervey, M. M., et al. (2018) · Cell · doi:10.1016/j.cell.2018.04.032 · Cited by 111 · see citing works
Self-citationThe Yale cTAKES extensions for document classification: architecture and application
Garla, V. N., Re, V. L., Dorey-Stein, Z. L., et al. (2011) · Journal of the American Medical Informatics Association · doi:10.1136/amiajnl-2011-000093 · Cited by 107 · see citing works
Implementation and utilization of genetic testing in personalized medicine
Scott, S., Abul-Husn, N., Owusu Obeng, A., Sanderson, S., & Gottesman, O. (2014) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s48887 · Cited by 106 · see citing works
Self-citationGenome-wide association studies of drug response and toxicity: an opportunity for genome medicine
Giacomini, K. M., Yee, S. W., Mushiroda, T., et al. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.234 · Cited by 101 · see citing works
Shirts, B. H., Salama, J. S., Aronson, S., et al. (2015) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocv065 · Cited by 96 · see citing works
Yeung, S. L. A., Luo, S., & Schooling, C. M. (2018) · Diabetes Care · doi:10.2337/dc18-0289 · Cited by 93 · see citing works
Consumer genomics will change your life, whether you get tested or not
Khan, R., & Mittelman, D. (2018) · Genome Biology · doi:10.1186/s13059-018-1506-1 · Cited by 87 · see citing works
Cancer Precision Medicine: From Cancer Screening to Drug Selection and Personalized Immunotherapy
Deng, X., & Nakamura, Y. (2016) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2016.10.013 · Cited by 80 · see citing works
Belbin, G. M., Odgis, J. A., Sorokin, E. P., Yee, M.-C., Kohli, S., Glicksberg, B. S., Gignoux, C. R., Wojcik, G. L., Vleck, T. T. V., Jeff, J. M., et al. (2017) · eLife · doi:10.7554/elife.25060 · Cited by 77 · see citing works
Self-citationOrlando, L. A., Buchanan, A. H., Hahn, S. E., Christianson, C. A., Powell, K. P., Skinner, C. S., Chesnut, B., Blach, C., Due, B., Ginsburg, G. S., et al. (2013) · North Carolina Medical Journal · doi:10.18043/ncm.74.4.287 · Cited by 76 · see citing works
Geneticists push for global data-sharing
Hayden, E. C. (2013) · Nature · doi:10.1038/498017a · Cited by 75 · see citing works
An ‘Honest Broker’ mechanism to maintain privacy for patient care and academic medical research
Boyd, A. D., Hosner, C., Hunscher, D. A., et al. (2006) · International Journal of Medical Informatics · doi:10.1016/j.ijmedinf.2006.09.004 · Cited by 69 · see citing works
Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine
Hui, L., & Bianchi, D. W. (2016) · Annual Review of Medicine · doi:10.1146/annurev-med-072115-033220 · Cited by 69 · see citing works
Vitek, C. R. R., Abul‐Husn, N. S., Connolly, J. J., Hartzler, A. L., Kitchner, T., Peterson, J. F., Rasmussen, L. V., Smith, M. E., Stallings, S., Williams, M. S., et al. (2017) · Pharmacogenomics · doi:10.2217/pgs-2017-0038 · Cited by 65 · see citing works
Self-citationDhanda, R. K. (2002) · doi:10.1002/0471224839.ch4 · Cited by 64 · see citing works
A Pharmacogenomics Clinical Decision Support Service Based on FHIR and CDS Hooks
Dolin, R. H., Boxwala, A. A., & Shalaby, J. (2018) · Methods of Information in Medicine · doi:10.1055/s-0038-1676466 · Cited by 61 · see citing works
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
Buchanan, A. H., Manickam, K., Meyer, M. N., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.145 · Cited by 56 · see citing works
Electronic health records: the next wave of complex disease genetics
Wolford, B. N., Willer, C. J., & Surakka, I. L. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy081 · Cited by 56 · see citing works
Jain, K. K. (2002) · PubMed · Cited by 56 · see citing works
Pique, L. M., Graham, S., Pearl, M., Kharrazi, M., & Schrijver, I. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.48 · Cited by 51 · see citing works
Practical considerations in genomic decision support: The eMERGE experience
Herr, T. M., Bielinski, S. J., Böttinger, E. P., et al. (2015) · Journal of Pathology Informatics · doi:10.4103/2153-3539.165999 · Cited by 49 · see citing works
Eden, C., Johnson, K. W., Gottesman, O., Böttinger, E. P., & Abul‐Husn, N. S. (2016) · Personalized Medicine · doi:10.2217/pme.15.58 · Cited by 44 · see citing works
Self-citationFinding the Rare Pathogenic Variants in a Human Genome
Evans, J. P., Powell, B. C., & Berg, J. S. (2017) · JAMA · doi:10.1001/jama.2017.0432 · Cited by 44 · see citing works
Green, R. F., Ari, M. D., Kolor, K., Dotson, W. D., Bowen, S. M., Habarta, N., Rodriguez, J. L., Richardson, L. C., & Khoury, M. J. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0028-2 · Cited by 41 · see citing works
Recent advances of genomic testing in perinatal medicine
Peters, D. G., Yatsenko, S. A., Surti, U., & Rajkovic, A. (2014) · Seminars in Perinatology · doi:10.1053/j.semperi.2014.10.009 · Cited by 35 · see citing works
Sutherland, S. M., Kaelber, D. C., Downing, N. L., Goel, V. V., & Longhurst, C. (2016) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2015.12.002 · Cited by 33 · see citing works
Green, R. C., Goddard, K. A. B., Jarvik, G. P., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.06.002 · Cited by 32 · see citing works
Williams, M. S., Kern, M. S., Lerch, V., Billet, J., Williams, J. L., & Moore, G. J. (2018) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-018-0614-x · Cited by 24 · see citing works
Bridging Genomics Research Between Developed and Developing Countries: The Genomic Medicine Alliance
Cooper, D. N., Brand, A. M., Dolžan, V., Fortina, P. M., Innocenti, F., Lee, M. T. M., Maçek, M., Al‐Mulla, F., Prainsack, B., Squassina, A., et al. (2014) · Personalized Medicine · doi:10.2217/pme.14.59 · Cited by 23 · see citing works
Das estnische Genomprojekt im Kontext der europäischen Genomforschung
Metspalu, A., Köhler, F., Laschinski, G., et al. (2004) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/s-2004-824840 · Cited by 20 · see citing works
The Path to Routine Genomic Screening in Health Care
Murray, M. F. (2018) · Annals of Internal Medicine · doi:10.7326/m18-1722 · Cited by 20 · see citing works
Huopaniemi, I., Nadkarni, G. N., Nadukuru, R., et al. (2014) · PubMed · Cited by 15 · see citing works
Obeng, A. O., Kaszemacher, T., Abul‐Husn, N. S., et al. (2016) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.425 · Cited by 13 · see citing works
Self-citationObtaining a Genetic Family History Using Computer‐Based Tools
Li, W., Murray, M. F., & Giovanni, M. A. (2018) · Current Protocols in Human Genetics · doi:10.1002/cphg.72 · Cited by 12 · see citing works
Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps
Manolio, T. A. (2017) · Annals of Internal Medicine · doi:10.7326/m17-1518 · Cited by 10 · see citing works
Flagged first, then by citations
Research works printed but not linked: 4
- Centers for Medicare & Medicaid Services, H.H.S. (2012). Medicare and Medicaid programs; electronic health record incentive program--stage 2. Final rule. Fed Regist 77, 53967– 54162. 22946138
- Martin AR, Kanai M, Kamatani Y, Okada Y, Neale BM, and Daly MJ (2019). Hidden 'risk' in polygenic scores: clinical use today could exacerbate health disparities. bioRxiv, 441261.
- Metspalu A, Kohler F, Laschinski G, Ganten D, and Roots I (2004). [ The Estonian Genome Project in the context of European genome research]. Dtsch Med Wochenschr 129 Suppl 1, S25– 28. 15133739
- National Research Council (US) Committee on A Framework for Developing a New Taxonomy of Disease (2011). In Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease (Washington (DC)). 22536618
Cited by
Sorted by citations
Genomic data in the all of us research program
The All of Us Research Program Genomics Investigators, Manuscript Writing Group, Bick, A. G., Metcalf, G. A., Mayo, K. R., Lichtenstein, L., Rura, S., Carroll, R. J., Musick, A., Linder, J. E., et al. (2024) · Nature · doi:10.1038/s41586-023-06957-x · Cited by 829 · see citing works
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
Self-citationEvaluation and Mitigation of Racial Bias in Clinical Machine Learning Models: Scoping Review
Huang, J., Galal, G., Etemadi, M., & Vaidyanathan, M. (2022) · JMIR Medical Informatics · doi:10.2196/36388 · Cited by 186 · see citing works
Chen, F., Wang, L., Hong, J., Jiang, J., & Zhou, L. (2024) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocae060 · Cited by 178 · see citing works
“8,9 Biases can emerge at various stages of the model development lifecycle, 10–12 underlining the importance of developing and implementing strategies for effective detection, mitigation, and evaluation of biases.”
Muse, E. D., & Topol, E. J. (2024) · Cell Metabolism · doi:10.1016/j.cmet.2024.02.002 · Cited by 50 · see citing works
Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations
Turley, P., Martin, A. R., Goldman, G., Li, H., Kanai, M., Walters, R. K., Jala, J. B., Lin, K., Millwood, I. Y., Carey, C. E., et al. (2021) · doi:10.1101/2021.04.23.441003 · Cited by 35 · see citing works
Monogenic and Polygenic Models of Coronary Artery Disease
Muse, E. D., Chen, S.-F., & Torkamani, A. (2021) · Current Cardiology Reports · doi:10.1007/s11886-021-01540-0 · Cited by 27 · see citing works
An in-depth review of AI-powered advancements in cancer drug discovery
Le, M. H. N., Nguyen, P. K., Nguyen, T. P. T., Nguyen, H. Q., Tam, D. N. H., Huynh, H. H., Huynh, P. K., & Le, N. Q. K. (2025) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2025.167680 · Cited by 15 · see citing works
- Authors
- Abul-Husn, N. S., & Kenny, E. E.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Kenny, Eimear E.
- ORCID
- Kenny, Eimear E.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2019-03
- Volume
- 177
- Issue
- 1
- Pages
- 58-69
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC6921466
- OpenAlex
- W2923757114
- Cited by
- 355
- References
- 120
- Citations by year
- 2026: 36 · 2025: 68 · 2024: 63 · 2023: 53 · 2022: 48 · 2021: 49 · 2020: 28 · 2019: 10
- FWCI
- 6.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Icahn School of Medicine
- NHGRI
- NHLBI
- NIDDK (U01HG009080, R01DK110113, U01HG009610, R01HL104608)
- Topics
- Health Sciences › Health Professions › Health Information Management › Electronic Health Records Systems
- Health Sciences › Medicine › Health Informatics › Artificial Intelligence in Healthcare and Education
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Technology and Human Factors in Education and Health
- Keywords
- personalized medicine, electronic health records, genomic data integration, population-based biobanks, translational research, implementation research
- MeSH terms
- Genetic Testing, Humans, United States, Genome, Human, Genomics, Precision Medicine, Electronic Health Records
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review