I think it’s all about accuracy and cost, but also willingness. Like when they developed a train with a steam engine, people said they would never work, they’re too expensive and too toxic. But at the end of the day, no one is in a carriage anymore, right? So I think it’s all about what’s going to be and how long it will take to get there. So whole genome sequencing is a research tool...
I think it’s all about accuracy and cost, but also willingness. Like when they developed a train with a steam engine, people said they would never work, they’re too expensive and too toxic. But at the end of the day, no one is in a carriage anymore, right? So I think it’s all about what’s going to be and how long it will take to get there. So whole genome sequencing is a research tool. We have surrogated and captured some of the features that whole genome sequencing can provide, like targeted panels, and others cannot be captured. So we need studies to compare how many patients would be misclassified using a targeted versus a whole genome. I consider FISH a carriage pushed by horses of the 19th and 18th centuries. So that’s old technology and some groups already, you know, cut it out. So we need to move forward. The expensiveness, I think, is an excuse because the cost of FISH is actually higher than the targeted panel and equivalent to a whole genome. Now, the problem is the infrastructure, like hospitals, particularly across Europe and the US, are not yet equipped for large-scale targeted panel sequencing. So it’s about a revolution. Like 20 years ago, we didn’t have the internet in hospitals; now, without the internet, hospitals don’t work, all right. So at a certain point, we will have to just face the reality that the field is moving forward and technology needs to be updated, and we have to do it. Some groups have already done it very proactively; others are pushing back, but it is inevitable.
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