Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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The Clinical impact of Chromosomal microarray on Paediatric care in Hong Kong (CGX-12)

ABSTRACT: Objective: To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong Methods: We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/ developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their “clinical actionability” based on established criteria. Results: Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p<0.001). Nineteen out of the 28 management recommendations are “evidence-based” on either practice guidelines endorsed by a professional society (n=9, Level 1) or peer-reviewed publications making medical management recommendation (n=10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n=24); diagnostic testing (n=24), surveillance of complications (n=19), interventional procedure (n=7), medication (n=15) or lifestyle modification (n=12).

ORGANISM(S): Homo sapiens

SUBMITTER: Dr. Y.K. Chan

PROVIDER: E-MTAB-2884 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Project description:Interventions: This is a non-randomised sequential cohort study with a control phase followed by an intervention phase and finally a qualitative phase to fully assess study feasibility. Patient diagnosis date will determine whether they are invited to participate within the control or intervention phase of the study. All patients who consent will be screened for comorbidity by completing a health questionnaire (taking up to 30 minutes) and medical note review by a research nurse. The nurse will assess the patient’s eligibility to be referred to the intervention using defined decision-making criteria. Patients within the intervention arm who are identified as being eligible will be invited to attend a Comprehensive Medical Assessment (CMA) completed by a study specific Geriatrician within Older Persons’ Health outpatient clinics single session. Each CMA will take 30-60 minutes to complete. The CMA will be tailored to each patient, will cover a) assessment and management of comorbidity; b) assessment and management of polypharmacy; c) evaluation of mental health with a particular focus on depression; and d) review of functional and psychosocial issues, and will result in patient specific care plans. On-going geriatrician management will be determined on a case by case basis. Geriatrician clinical notes and letters will be reviewed to obtain study data pertaining to each patients specific care plan, and to assess intervention fidelity. Primary outcome(s): Whether the study forms, processes and procedures are acceptable and feasibile to enact. This will be assessed by tracking recruitment numbers overall, assessing the proportion of patients who fulfil eligiblity criteria to proceed to CMA and the proportion CMA eligibile intervention arm patients who consent to CMA, and through qualitative feedback from participants (including patients, research nurses and clinicians) . [1 year post enrollment in the study];Chemotherapy uptake rates. This will be assessed and collected by study-specific research coordinators on standardised proforma through manual review of patient’s medical notes.[1 year post enrollment in the study];Chemotherapy completion - as planned - rates. This will be assessed and collected by study-specific research coordinators on standardised proforma through manual review of patient’s medical notes.[1 year post enrollment in the study] Study Design: Purpose: Treatment; Allocation: Non-randomised trial; Masking: Open (masking not used);Assignment: Other

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The Clinical impact of Chromosomal microarray on Paediatric care in Hong Kong (CGX-12)

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