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Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Hayeems RZ, Hoang N, Chenier S, Stavropoulos DJ, Pu S, Weksberg R, Shuman C - Eur. J. Hum. Genet. (2014)

Bottom Line: Clinically significant variants and variants of uncertain clinical significance were associated with higher and slightly higher rates of management recommendations, respectively, compared with benign/no variants (RR=1.34; 95% CI (1.22-1.47); RR=1.23; 95% CI (1.09-1.38)).In conclusion, medical recommendations follow CMA for the majority of children.Compared with benign CMA results, clinically significant CMA variants are a significant driver of pediatric medical recommendations.

View Article: PubMed Central - PubMed

Affiliation: 1] Program in Child Health Evaluative, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada [2] Institute of Health Policy Management and Evaluation, The University of Toronto, Toronto, ON, Canada.

ABSTRACT
Interpretation of pediatric chromosome microarray (CMA) results presents diagnostic and medical management challenges. Understanding management practices triggered by CMA will inform clinical utility and resource planning. Using a retrospective cohort design, we extracted clinical and management-related data from the records of 752 children with congenital anomalies and/or developmental delay who underwent CMA in an academic pediatric genetics clinic (2009-2011). Frequency distributions and relative rates (RR) of post-CMA medical recommendations in children with reportable and benign CMA results were calculated. Medical recommendations were provided for 79.6% of children with reportable results and 62.0% of children with benign results. Overall, recommendations included specialist consultation (40.8%), imaging (32.5%), laboratory investigations (17.2%), surveillance (4.6%), and family investigations (4.9%). Clinically significant variants and variants of uncertain clinical significance were associated with higher and slightly higher rates of management recommendations, respectively, compared with benign/no variants (RR=1.34; 95% CI (1.22-1.47); RR=1.23; 95% CI (1.09-1.38)). Recommendation rates for clinically significant versus uncertain results depended upon how uncertainty was classified (RRbroad=1.09; 95% CI (0.99-1.2); RRnarrow=1.12; 95% CI (1.02-1.24)). Recommendation rates also varied by the child's age and provider type. In conclusion, medical recommendations follow CMA for the majority of children. Compared with benign CMA results, clinically significant CMA variants are a significant driver of pediatric medical recommendations. Variants of uncertain clinical significance drive recommendations, but to a lesser extent. As a broadening range of specialists will need to respond to CMA results, targeted capacity building is warranted.

No MeSH data available.


Related in: MedlinePlus

Medical recommendations following CMA analysis.
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fig1: Medical recommendations following CMA analysis.

Mentions: Following the provision of CMA results to families, up to and including three clinical consults, 79.6% of children with reportable results (364/457) and 62.4% of children with benign results (184/295) received medical recommendations (n=548; Table 3). A total of 2508 new investigations were recommended for this group of 548 children (72.9% of the total cohort, ). Of the total number of recommendations made, the greatest proportion was for specialist consultations (40.8%) (Table 2, Figure 1).


Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.

Hayeems RZ, Hoang N, Chenier S, Stavropoulos DJ, Pu S, Weksberg R, Shuman C - Eur. J. Hum. Genet. (2014)

Medical recommendations following CMA analysis.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4538218&req=5

fig1: Medical recommendations following CMA analysis.
Mentions: Following the provision of CMA results to families, up to and including three clinical consults, 79.6% of children with reportable results (364/457) and 62.4% of children with benign results (184/295) received medical recommendations (n=548; Table 3). A total of 2508 new investigations were recommended for this group of 548 children (72.9% of the total cohort, ). Of the total number of recommendations made, the greatest proportion was for specialist consultations (40.8%) (Table 2, Figure 1).

Bottom Line: Clinically significant variants and variants of uncertain clinical significance were associated with higher and slightly higher rates of management recommendations, respectively, compared with benign/no variants (RR=1.34; 95% CI (1.22-1.47); RR=1.23; 95% CI (1.09-1.38)).In conclusion, medical recommendations follow CMA for the majority of children.Compared with benign CMA results, clinically significant CMA variants are a significant driver of pediatric medical recommendations.

View Article: PubMed Central - PubMed

Affiliation: 1] Program in Child Health Evaluative, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada [2] Institute of Health Policy Management and Evaluation, The University of Toronto, Toronto, ON, Canada.

ABSTRACT
Interpretation of pediatric chromosome microarray (CMA) results presents diagnostic and medical management challenges. Understanding management practices triggered by CMA will inform clinical utility and resource planning. Using a retrospective cohort design, we extracted clinical and management-related data from the records of 752 children with congenital anomalies and/or developmental delay who underwent CMA in an academic pediatric genetics clinic (2009-2011). Frequency distributions and relative rates (RR) of post-CMA medical recommendations in children with reportable and benign CMA results were calculated. Medical recommendations were provided for 79.6% of children with reportable results and 62.0% of children with benign results. Overall, recommendations included specialist consultation (40.8%), imaging (32.5%), laboratory investigations (17.2%), surveillance (4.6%), and family investigations (4.9%). Clinically significant variants and variants of uncertain clinical significance were associated with higher and slightly higher rates of management recommendations, respectively, compared with benign/no variants (RR=1.34; 95% CI (1.22-1.47); RR=1.23; 95% CI (1.09-1.38)). Recommendation rates for clinically significant versus uncertain results depended upon how uncertainty was classified (RRbroad=1.09; 95% CI (0.99-1.2); RRnarrow=1.12; 95% CI (1.02-1.24)). Recommendation rates also varied by the child's age and provider type. In conclusion, medical recommendations follow CMA for the majority of children. Compared with benign CMA results, clinically significant CMA variants are a significant driver of pediatric medical recommendations. Variants of uncertain clinical significance drive recommendations, but to a lesser extent. As a broadening range of specialists will need to respond to CMA results, targeted capacity building is warranted.

No MeSH data available.


Related in: MedlinePlus