Better Research for Children’s Eye Health with Data-Driven Medicine

August is Children’s Eye Health and Safety Month, September is Childhood Cancer Awareness Month, and more kids would normally get their eyes checked before heading back to school this time of year. Now is a great opportunity to bring focus to an area of pediatric care and important research that is not often highlighted.


•    There are more than 350 inherited eye disorders
•    Next-Generation Sequencing (NGS) of genetic information can be used for identification and prognosis

According to the National Optometric Association, a child could be at risk if they:
•    Were born prematurely (less than 32 weeks completed gestation)
•    Have a family history of vision disorders, such as childhood cataract, amblyopia (may also be called lazy eye), misaligned eyes, eye tumors, or wore glasses before first grade
•    Have had an eye injury (problems resulting from childhood eye injuries may develop much later in life)
•    Have been diagnosed with a condition that could affect their mental and/or emotional development


Data-Driven Medicine through Next Generation Sequencing (NGS) is helping investigators make great strides in eye health research that’s empowered by the analysis of highly accurate genomic data. In recent studies featured in peer-reviewed publications, there have been examples of genomic analysis demonstrating a clear clinical utility in managing inherited eye disorders.

We’ve done extensive research of our own in this area. With SOPHiA GENETICS’ universal platform for exome applications, we can target eye disorders by accurately detecting implicated molecular changes. This has been demonstrated in a number of studies utilizing our Whole Exome Solution (WES) for data analysis. SOPHiA GENETICS’ WES portfolio includes genomic applications that combine capture-based target enrichment kits and the analytical power of SOPHiA AI with full access to our global community through the SOPHiA Platform.

Our solutions are expertly designed to provide a comprehensive coverage of all types of genomic variants (SNVs, Indels and CNVs) in more than 19,000 genes. From the WES, customization can also be carved out for a highly specific and targeted analysis for better eye health research. 

If you’d like to learn more about what Data-Driven Medicine with SOPHiA GENETICS can do to support Children’s Eye Health research, take a closer look at our Whole Exome Solution or contact us for more personalized information to match your needs.