Nearly a third of neurodevelopmental disorders are thought to have a genetic basis and the most recent ACMG guidelines, from 2010, recommend Chromosomal Microarray (CMA) and fragile X testing as first tier genetic tests. In a recent study published in GIM, Srivastava et al carried out a meta-analysis of 30 papers published since those guidelines were issued and determined exome sequencing had a significantly higher diagnostic yield than these previous testing standards. In this month’s GenePod, Cynthia Graber talks to Mustafa Sahin, senior author of the study, about the authors’ hopes that the increased diagnostic yield will lead to exome sequencing being more widely accepted as the first line testing. The authors are also hopeful that having a molecular diagnosis might result in potentially actionable treatments for some patients. Click for related article:
https://www.nature.com/articles/s41436-019-0554-6

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