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I think that's a really good point. In fact, for many lab tests where the results are completely "cut-and-dry", this suggestion totally makes sense. For us, o

by astroH 7y ago

I think that's a really good point. In fact, for many lab tests where the results are completely "cut-and-dry", this suggestion totally makes sense. For us, one thing we consider is that the diagnostic yield for these types of sequencing tests is only ~40%-50% in the best case. We know from the literature that if we perform a reanalysis 6 months-1 year, the chances that we find something in patients that don't have a result increases quite substantially as does how we interpret known variants. Thus, continual reanalysis is very important to many of the patients that we work with. Unfortunately, it's too expensive to resequence every time we need to run such a reanalysis algorithm.

est31 7y ago
> it's too expensive to resequence every time we need to run such a reanalysis algorithm. You can also send hard disks to customers with the exome on them and ask them to either send them to you for a, idk 20 USD reanalysis that you recommend doing every year, or you can even have it done on the customer's computers themselves with a program that you provide that downloads the latest database of variants from the internet and then performs the analysis completely off-line without sending any info on which disease chances the patient has to you.
- astroH 7y ago
  Both good suggestions. The hard-drive idea is totally doable and something we have considered. In terms of the analysis, it's not quite a program that you can run on your own computer. You can rank variants this way but you need a trained bioinformatician to interpret them which is why it has to be done on our side.