Dr. Sally Ann Lynch:

Yes, but the testing now is broader. It was safer in olden days when a specific gene was tested for. Oftentimes, there is one different clinical picture. I will use Ms Daly as an example. She mentioned 300 different genes could explain her clinical issue so the cheapest method now is to check all of them, sometimes checking all 23,000 genes for one specific gene. Going back to what I said about how much DNA variation each of us has, the problem is if an exome test looking at just 2% of the DNA is done, each of us has 18,000 variants. We go with the European advice, which is that the genes targeted are those of interest to what the patient has and the laboratory is told to just look at that piece of DNA.

There are not enough of us to explain the European situation and the problem is the American guidelines, which are now saying to target. For example, if the eye genes for a child with an eye disorder are targeted, in America they are also obliged when doing that sort of broad test to inform the patient about alterations in certain cancer or cardiac sudden death genes. That is the American stance. The European stance is quite different. We are saying just look at the genes relating to the clinical query in the first place and do not look otherwise. I very much agree with the European stance.