Recently, I was talking to a young man in my clinic whom I had recently diagnosed with MS. We went over the potential options for treatment and he said that he would think it over and get back to me. A few weeks later I received an email from him stating that he wanted to start dimethyl fumarate (Tecfidera), a new disease modifying-drug for MS. What was his rationale? Here it goes:

“I feel that its effects on the NF2 oxidative pathway mean that I am more likely to experience a clinical benefit, without the adverse effects of immunosuppression”.

Wow. This from an intelligent person who has absolutely no background in medicine. It is truly amazing what you can learn on the internet. While in this case, the young man did not take it upon himself to make the diagnosis of MS, there are people whom I have seen who are absolutely convinced that they have a particular neurological condition based on reports that they have read on the web. In some cases, patients initiate a process of investigation and then arrive at a neurologist’s office armed with objective data that need interpretation. This of course turns the basic process of diagnostics on its head- it becomes a case of find an abnormality first and then ask the doctor to make sense of what it means clinically.

Those of who you work closely with clinical geneticists would have seen a similar situation arising due to the advent of commercial gene panels, which can screen for pretty much anything you want them to screen for. The panels are expensive and once the results are produced it is up to the clinician to make sense of what it all means. This is a major problem in some situations as these panels can make the diagnostic process much harder, particularly where there is more than one abnormality uncovered. At the end of the day, the clinician will need to make a diagnosis and that means resorting to the traditional clinical method of taking a history and doing a physical examination.

In this issue of JNNP, Foley and colleagues provide an interesting report http://jnnp.bmj.com/content/85/9/1012.abstract on a diagnostic journey that commenced with two patients who had independently decided to obtain whole-genome sequencing. As you will read, the results initially side-tracked diagnostic efforts before the treating team were able to utilise a more traditional pathway of investigation, which ultimately led to the diagnosis.