Genome interpretation: Clinical correlation is recommended

TL;DRAbstract

In a brain MRI report, the following words often appear: “clinical correlation is recommended”. These words signify that inadequate clinical information was provided, or that an unexpected finding on the MRI should be assessed clinically. “Clinical correlation is recommended” is less common in a report about a single gene or simple gene panel. This is because the very act of ordering the test conveys much of what is important about the clinical situation, and only rarely is further information needed. Genetics labs are moving into new territory as they adopt next-generation genomic sequencing. When moving beyond single gene tests and simple panels, more clinical correlation is needed. The complexity of interpretation becomes similar to a brain MRI, only more so. In an exome, thousands of variants are found. Even after comparing to other family members, and using estimates of variant pathogenicity, many genes must be considered. Sometimes clinical correlation can be as simple as u

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