Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders

My summary: hereditary neurological diseases are difficult to diagnose. The study assessed the usefulness of whole exome sequencing as first-line diagnostic tool in adults. 27% of patients had a known or suspected pathogenic mutation. Patients with illness onset before the age of 40 were more likely to have a genetic cause of illness. This approach was cost-effective and shortened the diagnostic odyssey of a third of patients.

https://onlinelibrary.wiley.com/doi/full/10.1111/ane.13522

My thoughts: this seems relevant to ME/CFS as well. A portion of patients currently diagnosed with ME/CFS will be misdiagnosed and in reality have a difficult to diagnose genetic disease. These diseases can be present with numerous and heterogeneous symptoms, with atypical symptoms, may not be noticable until later in life, may have an apparent trigger. If this approach is cost effective and shortens the time for a diagnosis then it could be widely used and would improve the lives of patients.

How many ME/CFS patients would benefit from whole exome sequencing?

 

A very good idea and it could even show a pattern within the ME group.

Before PCR, it happened that microbiologists knew something was there even if they did not know what it was.

Hepatis C was like that. Something called non A/ non B was known for years before they managed to find out what it was.