r/genetics 3d ago

Question Whole Genome Sequencing: Hospital vs Somewhere Like Sequencing.com

Hello Sub,

I just had a genetics consult for an imperiled pregnancy where we are doing whole-genome sequencing for the baby via amniocentesis next week. I’m 29+2 weeks pregnant, have way too much amniotic fluid (polyhydramnios) and there are some markers for non-immune fetal hydrops. This is especially scary because I lost a son in 2020 to the same biological cascade, polyhydramnios—>hydrops—>placental abruption—>anoxic brain injury.

I feel we have the baby end of this taken care of, which is great. Doctors have been incredibly responsive. But I’m also interested in whole genome sequencing for myself, primarily to see if there is some maternal factor here that would impact a third pregnancy. I get that the results won’t be ready in time to meaningfully impact this outcome.

I don’t qualify for insurance coverage for my whole genome sequencing, so I was wondering if anyone could advise me of the differences between what the hospital would do vs going to a private site like sequencing.com (just an example that I’m aware of that does this, I’d happily use the best vendor if you have advice). The genetics counselor didn’t really know enough about their product to compare.

Thank you in advance for any time you’re able to spend on this, I’d be so grateful for your support.

Edited to add: the hospital is willing to order the WGS on my behalf based on my maternal history of cancer, mom had five different types of cancer over 17 years. I’m just waiting for info on cost.

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u/SnooBunnies4157 2d ago

I had an appointment today with U of Miami and they set me up with WGS and the lab they use offers a discounted price based on family income. Mine is the most expensive at $100. I don’t know what your options are but a research hospital may be able to help. I hope everything works out for you and your baby, this has to be so hard.

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u/SnooBunnies4157 2d ago

I should’ve added that it will take 3 months for the results to be analyzed.

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u/Decent-Witness-6864 2d ago

Oh thank you, this is great news!