Browsing by Author "Boonsimma P."

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    CAN KNOWLEDGEABLE EXPERTS ASSESS COSTS and OUTCOMES AS if THEY WERE IGNORANT? AN EXPERIMENT WITHIN PRECISION MEDICINE EVALUATION
    (2023-01-01) Dulsamphan T.; Juntama P.; Suwanpanich C.; Isaranuwatchai W.; Silzle M.; Poonmaksatit S.; Boonsimma P.; Shotelersuk V.; Visudtibhan A.; Lusawat A.; Kamolvisit W.; Kapol N.; Lochid-Amnuay S.; Sribundit N.; Samprasit N.; Morton A.; Teerawattananon Y.; Mahidol University
    Background: The purpose of this study is to evaluate the validity of the standard approach in expert judgement for evaluating precision medicines, in which experts are required to estimate outcomes as if they did not have access to diagnostic information, whereas in fact they do. Methods: Fourteen clinicians participated in an expert judgement task to estimate cost and medical outcomes from use of exome sequencing in pediatric patients with intractable epilepsy in Thailand. Experts were randomly assigned to either an "unblind" or "blind" group; the former were provided with the exome sequencing results for each patient case prior to the judgement task, whereas the latter were not provided with the exome sequencing results. Both groups were asked to estimate outcomes for the counterfactual scenario, in which patients had not been tested by exome sequencing. Results: Our study did not show significant results, possibly due to the small sample size of both participants and case studies. Conclusions: Comparison of the unblind and blind approach did not show conclusive evidence that there is a difference in outcomes. However, until further evidence suggests otherwise, we recommend the blind approach as preferable for when using expert judgement to evaluate precision medicines, because this approach is more representative of the counterfactual scenario than the unblind approach.
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    Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
    (2023-12-01) Summa S.; Ittiwut C.; Kulsirichawaroj P.; Paprad T.; Likasitwattanakul S.; Sanmaneechai O.; Boonsimma P.; Suphapeetiporn K.; Shotelersuk V.; Mahidol University
    Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133 patients received a molecular diagnosis after performing conventional investigations, single gene testing, and gene panels. The remaining 43 patients from 42 families could be classified into three groups: Group 1, MLPA-negative Duchenne muscular dystrophy (DMD) with 9 patients (9/43; 21%), Group 2, other muscular dystrophies (MD) with 18 patients (18/43; 42%) and Group 3, congenital myopathies (CM) with 16 patients (16/43; 37%). All underwent exome sequencing which could identify pathogenic variants in 8/9 (89%), 14/18 (78%), and 8/16 (50%), for each Group, respectively. Overall, the diagnostic yield of ES was 70% (30/43) and 36 pathogenic/likely pathogenic variants in 14 genes were identified. 18 variants have never been previously reported. Molecular diagnoses provided by ES changed management in 22/30 (73%) of the patients. Our study demonstrates the clinical utility and implications of ES in inherited myopathies.