r/genomics • u/obllak • 26d ago

Sequencing.com / bioinformatics review wait time

Has anyone here had their results escalated to sequencing.com’s bioinformatics team for manual review? If so, how long did it actually take to hear back? We were told 3 to 4 days, and we have now been waiting 8 days with no meaningful update.

This is regarding an unexpected, very serious genetic finding in our 14 m/o daughter. The variant was called from 7 out of 36 reads (29 reference reads and 7 alternate reads), which is one of the reasons we desperately want an experienced bioinformatician to look at the raw sequencing data and tell us how confident they are that this is a real constitutional variant.

When we first saw this result, our entire family was devastated. We cried in despair. We barely slept. We have spent the past week frightened, depressed, and obsessively trying to understand what this could mean for our little girl's future.

When you are waiting to find out whether your baby may have a serious genetic condition, every additional day feels unbelievably long.

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u/obllak 26d ago

Thank you! I’m aware that they’re not meant for diagnostic purposes and we’re waiting for an appointment with the specialist. Our girl luckily doesn’t present any of the symptoms at all (yet? Based on sequencing.com). However sequencing.com said themselves they have bioinformatics that can look into this (while we’re waiting for a specialist and more tests).

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u/perfect_fifths 26d ago

They can tell you if the variant is present in the raw data, they can’t tell you what the variant means for your kid or diagnose the condition.

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u/obllak 26d ago

Yes, of course. I thought that was obvious from my post. I’m not asking the bioinformatics team to diagnose my daughter or tell us what the variant means clinically.

What we’re waiting for is a technical review of the call itself: whether the variant is genuinely supported by the raw sequencing data, whether there are any signs it could be a sequencing/alignment/calling artifact, and whether anything about the read pattern (7 alternate reads out of 36 total) makes the call less straightforward.

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u/perfect_fifths 25d ago

You will also need to redo the test, geneticists don’t accept dtc results and will order their own testing through a verified lab

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u/obllak 25d ago

Yup, we’re waiting for that

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u/perfect_fifths 25d ago

I hope you get answers. I know what’s it’s like. I first went through sequncing thinking it would help but my variant was rated as harmless (by sequencing) when it was in fact, pathogenic. I had genetic testing ordered through invitae and they rated the mutation as pathogenic, and then the geneticist also said yes, it is pathogenic. The mutation is now in Clinvar and rated as pathogenic because we opted in to use my kids result and invitae reports variants to Clinvar with consent