Sample size of patient exit interviews by intervention and control groups.

<p>Sample size of patient exit interviews by intervention and control groups.</p

Logit model of insurance underutilization for children admitted to hospital with PhilHealth insurance.

<p>Logit model of insurance underutilization for children admitted to hospital with PhilHealth insurance.</p

Insurance underutilization in QIDS sites by quarterly monitoring period (2005–2006).

<p>Insurance underutilization in QIDS sites by quarterly monitoring period (2005–2006).</p

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices

<div><p>Background</p><p>Developmental disorders (DD), including autism spectrum disorder (ASD) and intellectual disability (ID), are a common group of clinical manifestations caused by a variety of genetic abnormalities. Genetic testing, including chromosomal microarray (CMA), plays an important role in diagnosing these conditions, but CMA can be limited by incomplete coverage of genetic abnormalities and lack of guidance for conditions rarely seen by treating physicians.</p><p>Methods</p><p>We conducted a longitudinal, randomized controlled trial investigating the impact of a higher resolution 2.8 million (MM) probe-CMA test on the quality of care delivered by practicing general pediatricians and specialists. To overcome the twin problems of finding an adequate sample size of multiple rare conditions and under/incorrect diagnoses, we used standardized simulated patients known as CPVs. Physicians, randomized into control and intervention groups, cared for the CPV pediatric patients with DD/ASD/ID. Care responses were scored against evidence-based criteria. In round one, participants could order diagnostic tests including existing CMA tests. In round two, intervention physicians could order the 2.8MM probe-CMA test. Outcome measures included overall quality of care and quality of the diagnosis and treatment plan.</p><p>Results</p><p>Physicians ordering CMA testing had 5.43% (p<0.001) higher overall quality scores than those who did not. Intervention physicians ordering the 2.8MM probe-CMA test had 7.20% (p<0.001) higher overall quality scores. Use of the 2.8MM probe-CMA test led to a 10.9% (p<0.001) improvement in the diagnosis and treatment score. Introduction of the 2.8MM probe-CMA test led to significant improvements in condition-specific interventions including an 8.3% (p = 0.04) improvement in evaluation and therapy for gross motor delays caused by Hunter syndrome, a 27.5% (p = 0.03) increase in early cognitive intervention for FOXG1-related disorder, and an 18.2% (p<0.001) improvement in referrals to child neurology for Dravet syndrome.</p><p>Conclusion</p><p>Physician use of the 2.8MM probe-CMA test significantly improves overall quality as well as diagnosis and treatment quality for simulated cases of pediatric DD/ASD/ID patients, and delivers additional clinical utility over existing CMA tests.</p></div

Multivariate linear regression model linking CMA and Utility: Overall CPV Scores.

<p>Multivariate linear regression model linking CMA and Utility: Overall CPV Scores.</p

Characteristics of Physicians.

<p>Characteristics of Physicians.</p

Flowchart of Physician Participant Selection.

<p>(139/147 (95%) physicians in the intervention arm confirmed viewing an educational webcast about the 2.8MM probe-CMA. No physicians in the control arm received any specific educational material.</p

Proportion of Cases in Which Physician Ordered Genetic Testing by Round.

<p>Proportion of Cases in Which Physician Ordered Genetic Testing by Round.</p

Case specific diagnostic and treatment practice changes among the intervention group.

<p>Case specific diagnostic and treatment practice changes among the intervention group.</p