Dr. Sally Ann Lynch:

From my point of view on the latest technology, different commercial companies will boast about how wonderful they are. I will do what is called exome sequencing, which looks at the active parts of the gene. Genome sequencing looks at the other 98%. There are huge issues with that, however. One generally gets more problems than actual diagnoses.

A recent paper suggested that if moving on to do the next test, that is, the genome sequencing, diagnoses would be picked up in 29%. There have been a flurry of letters back to the European Journal of Human Genetics, however. I had an email conversation with the editor of that journal. It caused a storm on Twitter because many other laboratories in Europe totally disagreed with this commercial company. Of course, the commercial company is looking for money. It will say that one test is negative and for someone to go on to do another test. Actually, there was no excess increase in diagnosis. I, therefore, stick with one that is safe.