Table 7 Predictors of a CES-guided treatment strategy in univariate and multivariable analyses
Predictor | Univariate analysis | Multivariable analysis† | ||||
|---|---|---|---|---|---|---|
Beta (SE) | Odds ratio (95% CI) | P value* | Beta (SE) | Odds ratio (95% CI) | P value‡ | |
Confirmation of the suspected diagnosis, Yes or Contributive | 1.86 (0.36) | 6.41 (3.16–13.01) | 3.13 × 10−9 | 1.32 (0.39) | 3.75 (1.74–8.12) | 0.0008 |
Suspected diagnosis subgroup, Hypercholesterolemia | 1.11 (0.36) | 3.03 (1.51–6.08) | 3.23 × 10−3 | 1.24 (0.41) | 3.45 (1.56–7.66) | 0.002 |
Number of genetic variants reported in the CES report per patient | 0.5 (0.13) | 1.77 (1.38–2.27) | 8.24E × 10−6 | 0.37 (0.16) | 1.44 (1.06–1.97) | 0.02 |
Department, Reference Center for Inborn Errors of Metabolism | 0.69 (0.29) | 1.99 (1.12–3.52) | 1.56E × 10−2 | 0.66 (0.33) | 1.94 (1.02–3.69) | 0.04 |
Setting, University Hospital of Nancy | 1.74 (1.03) | 5.68 (0.76–42.38) | 2.57 × 10−2 | Not retained§ | ||
Number of genetic variants classified as LP or P per patient | 0.59 (0.22) | 1.8 (1.17–2.77) | 8.62 × 10−3 | Not retained§ | ||
Number of genetic variants classified as VUS, LP, or P per patient | 0.56 (0.15) | 1.76 (1.31–2.36) | 2.04 × 10−4 | Not retained§ | ||
Exome sequencing on the proband and at least one family member | 0.64 (0.29) | 1.89 (1.06–3.36) | 3.39 × 10−2 | Not retained§ | ||
Suspected diagnosis subgroup, One-carbon metabolism disorder | 0.64 (0.29) | 1.89 (1.06–3.36) | 3.39 × 10−2 | Not retained§ | ||
Suspected diagnosis group, Liver disorder | − 1.14 (0.61) | 0.32 (0.1–1.06) | 3.01 × 10−2 | Not retained§ | ||