Genetic testing and early intervention

Doctor Thomas Insel discusses genetic testing, the need to identify disorders early, and the importance of preemptive intervention.

One of the ways that the question gets asked now, particularly around genetics, is if you have a gene and you can take Huntington’s as an example, where you know with some reliability that that mutation will create this disease and you can’t do anything about it. What’s the point? If there’s no action plan for having the information, how does it help you to have the information? And this very well may come up in areas of neuroscience, of clinical neuroscience where we may get out ahead of ourselves in terms of being able to identify very high risk, but not having a means with which to intervene. I think the most salient example is likely to be schizophrenia. Schizophrenia is a brain disorder. Unfortunately we make the diagnosis based on psychosis which is a very late stage, and we’d like to get there much earlier, but do we have an intervention that we could offer a 12 year old or a 15 year old who has the prodrome or who is even pre-symptomatic for schizophrenia? Not yet. Now I would argue that it’s still worth going down that road because until we can make a very early diagnosis, we won’t be able to develop the interventions and show that they are effective. But it’s been I think a mistake, and a logical mistake, within this field to assume that the treatments that we use for a later stage, like the anti-psychotics, would necessarily be the treatments we’d want to use for a preemptive intervention at a very early stage. Just as the treatments we use after a heart attack aren’t the treatments that we now use like the statins and diet and exercise for someone who’s at risk for myocardial infarction. It’s a whole different set of interventions. We need that. But I must say at this point there are not even very many people thinking about the importance of having those kinds of interventions because we don’t yet have the reliable diagnostic tools to say, ‘Here is someone who has this disorder at an early stage, and there’s a reason now to be able to intervene.’

genetic testing, intervention, prodrome, diagnostic tools, psychosis, huntingtons, thomas, insel

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