Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.

Only three cases were reported, so this cannot show how often whole genome sequencing resolves diagnoses in wider populations. Cases were selected because diagnostic uncertainty remained after initial genetic tests, so they do not represent all patients with rare neurological disease. The paper does not measure therapy, function, communication or participation outcomes, so it cannot guide treatment choices. The text and table give different chromosome locations for the Patient 2 deletion, with 7q11.2 in the table and 17q11.2 in the results text. The discussion recommends whole genome sequencing as a first-line test, but this is based on three cases and the paper says health economics analysis is needed.

The authors report no conflicts of interest. The funder named is the National Institute for Health and Care Research. The paper states that whole genome sequencing was performed by Illumina.

Do not conclude that whole genome sequencing should replace standard genetic tests for every rare neurological condition. This was a case series of three selected patients, and it does not measure therapy outcomes or show that sequencing improves function.