Fig. 1

Responsiveness of patient-reported outcome measures to genomic testing in rare disease. (a) Responsiveness of PROMs to diagnostic utility. (b) Responsiveness of PROMs to personal utility. (c) Responsiveness of PROMs to clinical utility. Responsiveness was evaluated using the Standardised Response Mean (SRM) effect size statistic, calculated as the ratio of the mean change of index scores to the SD of the changes in scores. The values 0.2, 0.5, and 0.8 were used as thresholds for small, moderate, and large effect sizes. The red, pink, orange and green reference lines refer to negative moderate effect (-0.5), negative small effect (-0.2), positive small effect (0.2) and positive moderate effect (0.5) respectively