A paper titled “Clinical application of whole-exome sequencing across clinical indications” was published by Genetics in Medicine today.

The study analyzed 3,040 consecutive cases assayed for molecular diagnosis at a single clinical laboratory. For 76% of cases, two or more family members for the probands were included in the sequencing. The overall diagnostic rate was 28.8%, which is pretty consistent with many other diagnostic labs using exome sequencing. However, the rate was 23.6% in proband-only cases and 31.0% when three family members were analyzed, suggesting the added value of using family information in teasing out disease causal variants.

It is important to note that the diagnostic yield for different phenotypes may differ substantially. Disorders involving hearing and vision (55% and 47%) tend to have higher yield, compared to those involving central nervous system and the cardiovascular system (31% and 28%). It is important to note that the vast majority of cases assayed by the clinical lab involved neurological conditions.

The article can be accessed at here.