Chromosomal microarray may improve overall care for paediatric patients


The use of a 2.8 million probe-chromosomal (2.8 MM probe-CMA) microarray genetic test increases the diagnostic and treatment quality in simulated paediatric cases of developmental disorders, autism spectrum disorders or intellectual disabilities, a new study reports.

For the longitudinal, randomized controlled trial, general and sub-specialized paediatricians all over the United States were recruited. To be included, the paediatricians had to have no prior experience in using the 2.8 MM probe-CMA.

Recruited paediatricians were then asked to provide care for simulated patients online using a Clinical Performance and Value vignette. This was done via interactive sessions over the web and according to a before-and-after design.

The participants were then randomly distributed between two groups: control and intervention. They were then asked to care for simulated paediatric patients with developmental disorders, autism spectrum disorders or intellectual disabilities.

The trial included two rounds. During the first round, participating paediatricians had the choice of available diagnostic tests including the existing chromosomal microarrays. During the second round, the paediatricians were given the option of using the 2.8 MM probe-CMA test.

The responses were then scored according to existing evidence-based standards. The outcomes included the quality of treatment, the treatment plan and the quality of overall care provided.

From the analysis, it was found that those who chose to use the chromosomal microarray tests obtained 5.43-percent higher quality scores compared with those who did not use the technique (p<0.001).

Similarly, those who used the 2.8 MM probe-CMA test had 7.20-percent better overall quality scores (p<0.001) and a 10.9-percent increase in the diagnosis and treatment quality scores (p<0.001).

In terms of condition-specific results, the 2.8 MM probe-CMA test improved gross motor delay therapy and evaluation by 9.3 percent (p=0.04), intervention for FOXG1-related cognitive impairment by 27.5 percent (p=0.03), and referrals to a child neurologist for Dravet syndrome by 18.2 percent (p<0.001).

Thus, the findings show that using the 2.8 MM probe-CMA test as an improvement to the traditional chromosomal microarray can considerably enhance treatment, diagnosis and overall care for simulated paediatric cases.