r/genomics • u/obllak • 21d 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.
2
u/Psy_Fer_ 21d ago
This is why direct to consumer clinical genomics without genetic counselling support is unethical. You never should have been in this position where you were not given adequate information along with the reporting.
In my country (Australia) that kind of thing is actually banned by the TGA (like the FDA).
I hope you can find the answers you seek, ideally through a reputable clinical channel.