Table 3.
Biological Predictive Models in Precision Psychiatry
| Outcome | Sample | Classification Methods | Best Performance | Most Relevant Predictors | Ref. |
|---|---|---|---|---|---|
| MDD | |||||
| Response to fluvoxamine at 6 weeks (HAMD-21 ≤ 8) | 121 patients with MDD | Neural networks | ROC AUC: 0.73 | 5-HTTLPR and TPH promoter polymorphism | Serretti and Smeraldi (2004)39 |
| Response to antidepressants (HAMD score < 17) | 225 patients with MDD included in the GSRD study | RF, K-means clustering | NA | rs6265 (BDNF), rs7430 (PPP3CC), rs6313 (HTR2A), absence of melancholy | Kautzky et al (2015)41 |
| Remission after duloxetine (MADRS ≤ 10) at 8 weeks | 186 patients with MDD treated with duloxetine | LASSO regression, classification -regression trees, SVM | Accuracy: 0.52 Sensitivity: 0.58 Specificity: 0.46 |
92 SNPs located in various genes | Maciukiewicz et al (2018)42 |
| Remission after citalopram (HDRS-17 ≤ 7) at 12 weeks | 34 patients with MDD and anxiety treated with citalopram + psychotherapy for 12 weeks and 33 controls; validation cohort including 63 patients with MDD treated with citalopram for 8 weeks | SVM | Accuracy: 0.79 Sensitivity: 0.86 Specificity: 0.90 |
mRNA levels of six genes (IFITM3, RPL5, GZMA, RPL24, MATR3, RPL17) | Guillox et al (2015)43 |
| Response to citalopram/escitalopram at 4 and 8 weeks (QIDS-C) | 290 patients with MDD included in the Mayo Clinic PGRN-AMPS SSRI trial | SVM, GLM, RF | Accuracy: 0.80 Sensitivity: 0.83 Specificity: 0.77 |
65 variables including levels of selected metabolites (eg serotonin, kynurenine and tryptophan) SNPs (eg located in DEFB1, AHR, TSPAN5 and ERICH3), psychometric measures and sociodemographic factors | Athreya et al (2018)44 |
| Response to antidepressants (50% reduction of HDRS-6) | 98 patients with MDD treated with SSRI or SNRI | SVM | Accuracy: 0.86 | rsfMRI and 13 SNPs located in 12 genes (ATP6V1B2, PCLO, MTHFR, HTR5A, CLOCK, HTR2C, DRD5, TPH2, SLC6A3, MAOB, TOR1A, PER3) | Pei et al (2019)45 |
| Response to antidepressants (HAMD score at 1, 4, 8 and 24 weeks) | 121 patients with MDD | ENR | Accuracy: 0.85 Sensitivity: 0.80 Specificity: 0.87 |
Brain MRI data, genetic variants and methylation status of different genes | Chang et al (2019)47 |
| SCZ | |||||
| Treatment-resistant schizophrenia | 5554 patients with treatment-resistant schizophrenia, 6299 healthy controls included in the CLOZUK sample | SVM, PRS | ROC AUC SVM: 0.63 ROC AUC PRS: 0.64 |
4998 SNPs located in various genes | Vivian-Griffiths et al (2019)49 |
| Antipsychotic-induced extrapyramidal symptoms | 131 patients with SCZ treated with risperidone and two replication cohorts of 113 patients each, treated with various antipsychotics | Naïve Bayes learner | Sensitivity: 0.39 Specificity: 0.81 |
Four SNPs located in genes of the mTOR signaling pathway (AKT1 and RPTOR) | Boloc et al (2018)52 |
Abbreviations: 5-HTTLPR, serotonin transporter gene-linked functional polymorphic region; ARPnet, antidepressant response prediction network for major depressive disorder; CLOZUK, clozapine UK; ENR, elastic net regularization; GLM, generalized linear model; GRSD, European Group for the Study of Resistant Depression; HAMD, Hamilton Depression Rating Scale; HAMD-21, HAMD, Hamilton Depression Rating Scale 21 items; HDRS-6, Hamilton Depressive Rating Scale 6 items; HDRS-17, Hamilton Depressive Rating Scale 17 items; MADRS, Montgomery–Asberg Depression Rating Scale; MDD, major depressive disorder; MRI, magnetic resonance imaging; mRNA, messenger RNA; NA, not available; rsfMRI, resting state functional MRI; PGRN-AMPS, Mayo Clinic Pharmacogenomics Research Network Antidepressant Medical Pharmacogenomic Study; PRS, polygenic risk score; QIDS-C, quick inventory of depressive symptoms; ROC AUC, area under the receiver operating characteristic curve; SCZ, schizophrenia; SNP, single nucleotide polymorphism; SNRI, serotonin and norepinephrine reuptake inhibitors; SSRI, selective serotonin reuptake inhibitors.