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Comparing DNA Tests for Rare Disease Diagnosis: A Simplified Explanation

A particular study was published in Science Direct that compared two kinds of DNA testing methods, called Whole-Exome Sequencing (WES) and Whole-Genome Sequencing (WGS), to see which is better for diagnosing rare diseases in both children and adults. 

The research team reviewed several studies conducted between 2011 and 2021. They found that both methods of DNA testing were quite similar in their ability to accurately diagnose diseases. However, when comparing results within the same group of individuals, the WGS test was slightly more likely to provide a diagnosis than the WES test.

Interestingly, the WGS test identified more new disease-related genes than the WES test. Despite this, the rate of results that couldn't be clearly understood or were of uncertain significance was roughly the same between the two tests.

When researchers only looked at the highest-quality studies, the researchers found that WGS had a greater overall benefit for patient care than WES. The study also suggested that WGS might become more commonly used in healthcare because of its increasing effectiveness, the introduction of new guidelines to understand test results better, and it's decreasing cost.

In addition, whole genome sequencing is better suited for re-analysis because it offers comprehensive coverage of the entire genome, allowing for the detection of variants that have been discovered since the previous analyses. FORESITE 360 is leading the innovation as genomic knowledge and analysis methods continue to evolve.  

The service offered by FORESITE 360 means that this cutting-edge technology is accessible to everyone. By opting for FORESITE 360 for your child's DNA testing needs, you are not only accessing the well-established advantages of WGS, but also embracing the future of healthcare technology. This decision places you at the forefront of medical advancements, ensuring the best possible care for your family.


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