Whole Exome Sequencing

Traveling back now from yet another Iowa City appointment. I am starting to think I should look for houses there rather than in WDM.

Today, we had a genetic counseling appointment to discuss the whole exome sequencing test – and to sign consent forms, of course.

If Kiran has a genetic disorder that can be identified, this test will give us that information. It is the “most comprehensive genetic test currently available.”

70% of results come back negative, meaning normal.

Genetics has come so far, but there is still so little known. Still, I am glad we are seeking answers at this level.

15% of results come back as VUS’s or “variants of unknown significance”. This means they found some differences in his genes, but they don’t know what the differences mean, if anything. This was what we found with his chromosomal microarray as a newborn. A variant without any known information attached to it.

Only 15% of the results come back with a positive result, or a variant they find that has known significance. Basically – an answer – an underlying genetic cause for all of Kiran’s stuff. A positive result may change his medical care or it may not, but it will give us an answer and resources.

We have to wait 3-4 months for these results. I am cautiously hopeful that Kiran’s results will fall in that last 15%.

But – genetics continues to make exciting progress and there are already the beginnings of even more intricate tests out there – so even if this doesn’t reveal anything, there is always hope.

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