Individualizing Medicine Blog Update:

Finding Answers: Understanding How Ambiguous Changes in Genes Impact Health and Disease

The advancements in DNA-sequencing technology in the modern genomic era have led to an explosion of data being generated for patients wishing to determine if they have a genetic characteristic associated with disease. Often, a patient may find that he or she has a change to their DNA sequence, a variation that predisposes them to or causes a particular disease. A significant proportion of this type of genetic testing, however, identifies variations where the clinical significance is not known. There isn’t enough evidence to determine if the variation causes disease, or if it is simply a benign variation that we all carry. These variations are called variants of uncertain significance and are a significant challenge in the interpretation of clinical genetic testing reports.  Read the full post here...

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