Optimizing prediction of response to antidepressant medications using machine learning and integrated genetic, clinical, and demographic data.


Journal

Translational psychiatry
ISSN: 2158-3188
Titre abrégé: Transl Psychiatry
Pays: United States
ID NLM: 101562664

Informations de publication

Date de publication:
08 07 2021
Historique:
received: 10 01 2021
accepted: 16 06 2021
revised: 13 05 2021
entrez: 9 7 2021
pubmed: 10 7 2021
medline: 15 7 2021
Statut: epublish

Résumé

Major depressive disorder (MDD) is complex and multifactorial, posing a major challenge of tailoring the optimal medication for each patient. Current practice for MDD treatment mainly relies on trial and error, with an estimated 42-53% response rates for antidepressant use. Here, we sought to generate an accurate predictor of response to a panel of antidepressants and optimize treatment selection using a data-driven approach analyzing combinations of genetic, clinical, and demographic factors. We analyzed the response patterns of patients to three antidepressant medications in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study, and employed state-of-the-art machine learning (ML) tools to generate a predictive algorithm. To validate our results, we assessed the algorithm's capacity to predict individualized antidepressant responses on a separate set of 530 patients in STAR*D, consisting of 271 patients in a validation set and 259 patients in the final test set. This assessment yielded an average balanced accuracy rate of 72.3% (SD 8.1) and 70.1% (SD 6.8) across the different medications in the validation and test set, respectively (p < 0.01 for all models). To further validate our design scheme, we obtained data from the Pharmacogenomic Research Network Antidepressant Medication Pharmacogenomic Study (PGRN-AMPS) of patients treated with citalopram, and applied the algorithm's citalopram model. This external validation yielded highly similar results for STAR*D and PGRN-AMPS test sets, with a balanced accuracy of 60.5% and 61.3%, respectively (both p's < 0.01). These findings support the feasibility of using ML algorithms applied to large datasets with genetic, clinical, and demographic features to improve accuracy in antidepressant prescription.

Identifiants

pubmed: 34238923
doi: 10.1038/s41398-021-01488-3
pii: 10.1038/s41398-021-01488-3
pmc: PMC8266902
doi:

Substances chimiques

Antidepressive Agents 0
Citalopram 0DHU5B8D6V

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

381

Subventions

Organisme : NIMH NIH HHS
ID : N01MH90003
Pays : United States
Organisme : NIGMS NIH HHS
ID : U19 GM061388
Pays : United States
Organisme : European Commission (EC)
ID : 832230

Références

Marcus M, Yasamy MT, van Ommeren M, Chisholm D, Saxena S. Depression: a global public health concern Vol. 1. WHO Department of Mental Health and Substance Abuse. 2012;6–8. https://www.who.int/mental_health/management/depression/who_paper_depression_wfmh_2012.pdf .
World Health Organization. Depression and other common mental disorders: global health estimates. Geneva: World Health Organization; 2017. p. 1–24.
Goldberg D. The heterogeneity of ‘major depression’. World Psychiatry. 2011;10:226–8.
pubmed: 21991283 pmcid: 3188778 doi: 10.1002/j.2051-5545.2011.tb00061.x
Sinyor M, Schaffer A, Levitt A. The Sequenced Treatment Alternatives to Relieve Depression (STAR*D) trial: a review. Can J Psychiatry. 2010;55:126–35.
pubmed: 20370962 doi: 10.1177/070674371005500303
Uher R. The implications of gene-environment interactions in depression: Will cause inform cure? Mol Psychiatry. 2008;13:1070–78.
pubmed: 18679406 doi: 10.1038/mp.2008.92
Perlis RH. Pharmacogenomic testing and personalized treatment of depression. Clin Chem. 2014;60:53–59.
pubmed: 24281779 doi: 10.1373/clinchem.2013.204446
Goldman LS, Nielsen NH, Champion HC, Bresolin. Awareness, diagnosis, and treatment of depression. J Gen Intern Med. 1999;14:569–80.
pubmed: 10491249 pmcid: 1496741 doi: 10.1046/j.1525-1497.1999.03478.x
Tunvirachaisakul C, Gould RL, Coulson MC, Ward EV, Reynolds G, Gathercole RL, et al. Predictors of treatment outcome in depression in later life: a systematic review and meta-analysis. J Affect Disord. 2018;227:164–82.
pubmed: 29100149 doi: 10.1016/j.jad.2017.10.008
Perlman K, Benrimoh D, Israel S, Rollins C, Brown E, Tunteng JF, et al. A systematic meta-review of predictors of antidepressant treatment outcome in major depressive disorder. J Affect Disord. 2019;243:503–15.
pubmed: 30286415 doi: 10.1016/j.jad.2018.09.067
Kato M, Serretti A. Review and meta-analysis of antidepressant pharmacogenetic findings in major depressive disorder. Mol Psychiatry. 2010;15:473–500.
pubmed: 18982004 doi: 10.1038/mp.2008.116
Pigoni A, Delvecchio G, Madonna D, Bressi C, Soares J, Brambilla P. Can Machine Learning help us in dealing with treatment resistant depression? A review. J Affect Disord. 2019;259:21–26.
pubmed: 31437696 doi: 10.1016/j.jad.2019.08.009
Jordan MI, Mitchell TM. Machine learning: trends, perspectives, and prospects. Science. 2015;349:255–60.
pubmed: 26185243 doi: 10.1126/science.aaa8415
Oquendo MA, Baca-Garcia E, Artés-Rodríguez A, Perez-Cruz F, Galfalvy HC, Blasco-Fontecilla H, et al. Machine learning and data mining: strategies for hypothesis generation. Mol Psychiatry. 2012;17:956–59.
pubmed: 22230882 doi: 10.1038/mp.2011.173
Lee Y, Ragguett RM, Mansur RB, Boutilier JJ, Rosenblat JD, Trevizol A, et al. Applications of machine learning algorithms to predict therapeutic outcomes in depression: a meta-analysis and systematic review. J Affect Disord. 2018;241:519–32.
pubmed: 30153635 doi: 10.1016/j.jad.2018.08.073
Cearns M, Opel N, Clark S, Kaehler C, Thalamuthu A, Heindel W, et al. Predicting rehospitalization within 2 years of initial patient admission for a major depressive episode: a multimodal machine learning approach. Transl Psychiatry. 2019;9:1–9.
doi: 10.1038/s41398-019-0615-2
Rush AJ, Fava M, Wisniewski SR, Lavori PW, Trivedi MH, Sackeim HA, et al. Sequenced treatment alternatives to relieve depression (STAR*D): rationale and design. Control Clin Trials. 2004;25:119–42.
pubmed: 15061154 doi: 10.1016/S0197-2456(03)00112-0
Trivedi MH, Rush AJ, Wisniewski SR, Nierenberg AA, Warden D, Ritz L, et al. Evaluation of outcomes with citalopram for depression using measurement-based care in STAR*D: Implications for clinical practice. Am J Psychiatry. 2006;163:28–40.
pubmed: 16390886 doi: 10.1176/appi.ajp.163.1.28
Rush AJ, Trivedi MH, Wisniewski SR, Nierenberg AA, Stewart JW, Warden D, et al. Acute and longer-term outcomes in depressed outpatients requiring one or several treatment steps: A STAR*D report. Am J Psychiatry. 2006;163:1905–17.
pubmed: 17074942 doi: 10.1176/ajp.2006.163.11.1905
Fava M, Rush AJ, Trivedi MH, Nierenberg AA, Thase ME, Sackeim HA, et al. Background and rationale for the sequenced treatment alternatives to relieve depression (STAR*D) study. Psychiatr Clin N Am. 2003;26:457–94.
doi: 10.1016/S0193-953X(02)00107-7
Mrazek DA, Biernacka JM, McAlpine DE, Benitez J, Karpyak VM, Williams MD, et al. Treatment outcomes of depression: the pharmacogenomic research network antidepressant medication pharmacogenomic study. J Clin Psychopharmacol. 2014;34:313–17.
pubmed: 24743713 pmcid: 3992481 doi: 10.1097/JCP.0000000000000099
Ji Y, Biernacka JM, Hebbring S, Chai Y, Jenkins GD, Batzler A, et al. Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: Genome-wide associations and functional genomics. Pharmacogenomics J. 2013;13:456–63.
pubmed: 22907730 doi: 10.1038/tpj.2012.32
Hamilton M. A rating scale for depression. J Neurol Neurosurg Psychiatry. 1960;23:56–62.
pubmed: 14399272 pmcid: 495331 doi: 10.1136/jnnp.23.1.56
Rush AJ, Trivedi MH, Ibrahim HM, Carmody TJ, Arnow B, Klein DN, et al. The 16-item Quick Inventory of Depressive Symptomatology (QIDS), clinician rating (QIDS-C), and self-report (QIDS-SR): a psychometric evaluation in patients with chronic major depression. Biol Psychiatry. 2003;54:573–83.
pubmed: 12946886 doi: 10.1016/S0006-3223(02)01866-8
Fabbri C, Tansey KE, Perlis RH, Hauser J, Henigsberg N, Maier W, et al. New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR∗D studies: rare variant analysis and high-density imputation. Pharmacogenomics J. 2018;18:413–21.
pubmed: 29160301 doi: 10.1038/tpj.2017.44
Kuhn M. Building predictive models in R using the caret package. J Stat Softw. 2008;28:1–26.
doi: 10.18637/jss.v028.i05
McKinney W. Data structures for statistical computing in Python. Proc. 9th Python Sci. Conf. 2010;51–6.
McMahon FJ, Buervenich S, Charney D, Lipsky R, Rush AJ, Wilson AF, et al. Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment. Am J Hum Genet. 2006;78:804–14.
pubmed: 16642436 pmcid: 1474035 doi: 10.1086/503820
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The Human Genome Browser at UCSC. Genome Res. 2002;12:996–1006.
pubmed: 12045153 pmcid: 186604 doi: 10.1101/gr.229102
Kinsellainsella RJ, Kähäri A, Haider S, Zamora J, Proctor G, Spudich G. et al. Ensembl BioMarts: a hub for data retrieval across taxonomic space. Database. 2011;2011:bar030
Garavaglia S, Sharma A. A smart guide to dummy variables: Four applications and a macro. In Proceedings of the Northeast SAS Users Group Conference 46–55 (Pittsburgh, PA, USA, 1998).
Zou H, Hastie T. Regularization and variable selection via the elastic net. J R Stat Soc Ser B. 2005;67:301–20.
doi: 10.1111/j.1467-9868.2005.00503.x
Tibshirani R. Regression shrinkage and selectino via the Lasso. J R Stat Soc Ser B. 1996;58:267–88.
Cortes C, Vapnik V. Support-vector networks. Mach Learn. 1995;20:273–97.
doi: 10.1007/BF00994018
Chen T, Guestrin C. Xgboost: A scalable tree boosting system. In Proc. 22nd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining 785–94 (ACM, 2016).
Breiman L. Random forests. Mach Learn. 2001;45:5–32.
doi: 10.1023/A:1010933404324
Freund Y, Schapire RE. A decision-theoretic generalization of on-line learning and an application to boosting. J Comput Syst Sci. 1997;55:119–39.
doi: 10.1006/jcss.1997.1504
Brodersen KH, Ong CS, Stephan KE, Buhmann JM. The balanced accuracy and its posterior distribution. In 20th International Conference on Pattern Recognition 3121–4 (IEEE, 2010).
Velez DR, White BC, Motsinger AA, Bush WS, Ritchie MD, Williams SM, et al. A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction. Genet Epidemiol. 2007;31:306–15.
pubmed: 17323372 doi: 10.1002/gepi.20211
Akosa JS. Predictive accuracy: a misleading performance measure for highly imbalanced data. SAS Glob Forum. 2017;942:1–12.
Ojala M, Garriga GC. Permutation tests for studying classifier performance. J Mach Learn Res. 2010;11:1833–63.
Good P. Permutation Tests: A Practical Guide to Resampling Methods for Testing Hypotheses 2nd edn. (Springer, 2000).
David FN, Olkin I, Ghurye SG, Hoeffding W, Madow WG, Mann HB. Contributions to probability and statistics: essays in honor of Harold hotelling. J R Stat Soc Ser A. 1961;124:250.
doi: 10.2307/2984135
Pearson KX. On the criterion that a given system of deviations from the probable in the case of a correlated system of variables is such that it can be reasonably supposed to have arisen from random sampling. Philos Mag J Sci. 1900;50:157–75.
doi: 10.1080/14786440009463897
Barton A, Ethier JF, Duvauferrier R, Burgun A. An ontological analysis of medical Bayesian indicators of performance. J Biomed Semant. 2017;8:1–13.
doi: 10.1186/s13326-016-0099-4
Efron B, Tibshirani R. Bootstrap methods for standard errors, confidence intervals, and other measures of statistical accuracy. Stat Sci. 1986;1:54–75.
Zimmerman M, Mattia JI. A self-report scale to help make psychiatric diagnoses: the psychiatric diagnostic screening questionnaire. Arch Gen Psychiatry. 2001;58:787–94.
pubmed: 11483146 doi: 10.1001/archpsyc.58.8.787
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther. 2012;92:414–17.
pubmed: 22992668 doi: 10.1038/clpt.2012.96
Eden E, Navon R, Steinfeld I, Lipson D, Yakhini Z. GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinform. 2009;10:48.
doi: 10.1186/1471-2105-10-48
Greenbaum L, Smith RC, Lorberboym M, Alkelai A, Zozulinsky P, Lifschytz T, et al. Association of the ZFPM2 gene with antipsychotic-induced parkinsonism in schizophrenia patients. Psychopharmacology. 2012;220:519–28.
pubmed: 21947317 doi: 10.1007/s00213-011-2499-6
Penn E, Tracy DK. The drugs don’t work? Antidepressants and the current and future pharmacological management of depression. Ther Adv Psychopharmacol. 2012;2:179–88.
pubmed: 23983973 pmcid: 3736946 doi: 10.1177/2045125312445469
Østergaard SD, Papakostas GI, Fava M. Depression: response and remission. In: Encyclopedia of psychopharmacology. Berlin, Heidelberg: Springer. 2013. p. 1–5.
Smagula SF, Butters MA, Anderson SJ, Lenze EJ, Dew MA, Mulsant BH, et al. Antidepressant response trajectories and associated clinical prognostic factors among older adults. JAMA Psychiatry. 2015;72:1021–1028.
pubmed: 26288246 pmcid: 4718144 doi: 10.1001/jamapsychiatry.2015.1324
Hunter AM, Muthén BO, Cook IA, Leuchter AF. Antidepressant response trajectories and quantitative electroencephalography (QEEG) biomarkers in major depressive disorder. J Psychiatr Res. 2010;44:90–98.
pubmed: 19631948 doi: 10.1016/j.jpsychires.2009.06.006
Strawn JR, Mills JA, Sauley BA, Welge JA. The impact of antidepressant dose and class on treatment response in pediatric anxiety disorders: a meta-analysis. J Am Acad Child Adolesc Psychiatry. 2018;57:235–44.e2.
pubmed: 29588049 pmcid: 5877120 doi: 10.1016/j.jaac.2018.01.015
Taylor MJ, Freemantle N, Geddes JR, Bhagwagar Z. Early onset of selective serotonin reuptake inhibitor antidepressant action: systematic review and meta-analysis. Arch Gen Psychiatry. 2006;63:1217–23.
pubmed: 17088502 pmcid: 2211759 doi: 10.1001/archpsyc.63.11.1217
Machado-Vieira R, Salvadore G, Luckenbaugh DA, Manji HK, Zarate CA Jr. Rapid onset of antidepressant action: a new paradigm in the research and treatment of major depressive disorder. J Clin Psychiatry. 2008;69:946–58.
pubmed: 18435563 pmcid: 2699451 doi: 10.4088/JCP.v69n0610
Katz MM, Tekell JL, Bowden CL, Brannan S, Houston JP, Berman N, et al. Onset and early behavioral effects of pharmacologically different antidepressants and placebo in depression. Neuropsychopharmacology. 2004;29:566–79.
pubmed: 14627997 doi: 10.1038/sj.npp.1300341
Khan A, Fahl Mar K, Faucett J, Khan Schilling S, Brown WA. Has the rising placebo response impacted antidepressant clinical trial outcome? Data from the US Food and Drug Administration 1987-2013. World Psychiatry. 2017;16:181–92.
pubmed: 28498591 pmcid: 5428172 doi: 10.1002/wps.20421
Cipriani A, Salanti G, Furukawa TA, Egger M, Leucht S, Ruhe HG, et al. Antidepressants might work for people with major depression: Where do we go from here? Lancet Psychiatry. 2018;5:461–63.
pubmed: 29628364 doi: 10.1016/S2215-0366(18)30133-0
Rosenblat JD, Lee Y, McIntyre RS. The effect of pharmacogenomic testing on response and remission rates in the acute treatment of major depressive disorder: a meta-analysis. J Affect Disord. 2018;241:484–91.
pubmed: 30149336 doi: 10.1016/j.jad.2018.08.056
Ressler KJ, Mayberg HS. Targeting abnormal neural circuits in mood and anxiety disorders: from the laboratory to the clinic. Nat Neurosci. 2007;10:1116–24.
pubmed: 17726478 pmcid: 2444035 doi: 10.1038/nn1944
Duman RS, Aghajanian GK, Sanacora G, Krystal JH. Synaptic plasticity and depression: new insights from stress and rapid-acting antidepressants. Nat Med. 2016;22:238–49.
pubmed: 26937618 pmcid: 5405628 doi: 10.1038/nm.4050
Kendler KS, Gatz M, Gardner CO, Pedersen NL. A Swedish national twin study of lifetime major depression. Am J Psychiatry. 2006;163:109–14.
pubmed: 16390897 doi: 10.1176/appi.ajp.163.1.109
Zubenko GS, Sommer BR, Cohen BM. On the marketing and use of pharmacogenetic tests for psychiatric treatment. JAMA Psychiatry. 2018;75:769–70.
pubmed: 29799933 doi: 10.1001/jamapsychiatry.2018.0834
Tansey KE, Guipponi M, Hu X, Domenici E, Lewis G, Malafosse A, et al. Contribution of common genetic variants to antidepressant response. Biol Psychiatry. 2013;73:679–82.
pubmed: 23237317 doi: 10.1016/j.biopsych.2012.10.030
Chekroud AM, Zotti RJ, Shehzad Z, Gueorguieva R, Johnson MK, Trivedi MH, et al. Cross-trial prediction of treatment outcome in depression: a machine learning approach. Lancet Psychiatry. 2016;3:243–50.
pubmed: 26803397 doi: 10.1016/S2215-0366(15)00471-X
Kautzky A, Baldinger-Melich P, Kranz GS, Vanicek T, Souery D, Montgomery S, et al. A new prediction model for evaluating treatment-resistant depression. J Clin Psychiatry. 2017;78:215–22.
pubmed: 28068461 doi: 10.4088/JCP.15m10381
Cipriani A, Geddes J. Predicting treatment outcome in depression: so far, so good. Lancet Psychiatry. 2016;3:192–94.
pubmed: 26803398 doi: 10.1016/S2215-0366(15)00542-8
Fernandes BS, Williams LM, Steiner J, Leboyer M, Carvalho AF, Berk M. The new field of ‘precision psychiatry’. BMC Med. 2017;15:80.
pubmed: 28403846 pmcid: 5390384 doi: 10.1186/s12916-017-0849-x
Taliaz D. Removing the trial-and-error process from depression. In: BioPharma Dealmakers (Biopharma Dealmakers, 2019). https://www.nature.com/articles/d43747-020-00738-5 .
Tanner JA, Davies PE, Voudouris NC, Shahmirian A, Herbert D, Braganza N, et al. Combinatorial pharmacogenomics and improved patient outcomes in depression: treatment by primary care physicians or psychiatrists. J Psychiatr Res. 2018;104:157–62.
pubmed: 30081389 doi: 10.1016/j.jpsychires.2018.07.012
Yang H, Liu J, Sui J, Pearlson G, Calhoun VD. A hybrid machine learning method for fusing fmri and genetic data: combining both improves classification of schizophrenia. Front Hum Neurosci. 2010;4:192.
pubmed: 21119772 pmcid: 2990459 doi: 10.3389/fnhum.2010.00192
Williams LM. Precision psychiatry: a neural circuit taxonomy for depression and anxiety. Lancet Psychiatry. 2016;3:472–80.
pubmed: 27150382 pmcid: 4922884 doi: 10.1016/S2215-0366(15)00579-9
Hicks JK, Bishop JR, Sangkuhl K, Müller DJ, Ji Y, Leckband SG, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors. Clin Pharmacol Ther. 2015;98:127–34.
pubmed: 25974703 pmcid: 4512908 doi: 10.1002/cpt.147
Mrazek DA, Biernacka JM, O'Kane DJ, Black JL, Cunningham JM, Drews MS, et al. CYP2C19 variation and citalopram response. Pharmacogenet Genomics. 2011;21:1–9.
pubmed: 21192344 pmcid: 3090085 doi: 10.1097/FPC.0b013e328340bc5a

Auteurs

Dekel Taliaz (D)

Taliaz, Tel Aviv, Israel. dekel@taliazhealth.com.

Ran Barzilay (R)

Lifespan Brain Institute, The Children's Hospital of Philadelphia (CHOP) and the University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

Zohar Barnett-Itzhaki (Z)

Taliaz, Tel Aviv, Israel.
Faculty of Engineering, Ruppin Academic Center, Emek Hefer, Israel.
The Dror (Imri) Aloni Center for Health Informatics, Ruppin Academic Center, Emek Hefer, Israel.

Dana Averbuch (D)

Taliaz, Tel Aviv, Israel.

Sne Darki-Morag (S)

Taliaz, Tel Aviv, Israel.

Bernard Lerer (B)

Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. lerer@mail.huji.ac.il.

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