To the Editor: I read with interest the article by Xue et al. in the June 2015 issue of Genetics in Medicine.1 I am concerned about an omission in the molecular genetic testing algorithm (Figure 1 in the article).
The authors mention performing chromosomal microarray testing and fragile X testing in cases of autism and intellectual disability before proceeding to exome sequencing. Fragile X testing is not shown in the algorithm for testing—this is a significant omission. Because algorithms are often used after articles have been published and have a life of their own in the hands of clinicians and third-party payers, I would ask that the algorithm be amended to correct this error. I further submit that autism and intellectual disability should not be “coupled” as a precondition for this testing. Microarray testing and fragile X analysis are appropriate in the presence of autism or intellectual disability. Intellectual disability is difficult to diagnose early in life, so significant (global) developmental delay should be used as a standard for this genetic testing in the pediatric population.2
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References
Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med 2015;17:444–451.
Moeschler JB, Shevell M ; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 2014;134:e903–e918.
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Saul, R. Molecular diagnostic testing. Genet Med 17, 761 (2015). https://doi.org/10.1038/gim.2015.115
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DOI: https://doi.org/10.1038/gim.2015.115