3 ms·

Can you speak to why you and your partner elected to do WGS, when you could have opted for more specific targeted testing of GJB2? I'd imagine that both you an

• arjie 1y ago
  Going off my memory here: * The labs that did traditional PGT-M available to us wanted embryo biopsy, parent samples, grandparent sample. The PGT-WGS guys wanted embryo biopsy, parent sample. For reasons specific to us, grandparent samples were not easy - and I found the reason for not requiring it convincing. * I preferred moving from the biology space to the data space because: * * At the time, only some 25 years had passed between the association of the variant with hearing loss and our attempt. There was a reasonable possibility our last child would be 5 years out from there, depending on implantation success, needing to go to surrogates, etc. That's a fifth of the way again from original discovery. It's entirely possible that new associations are found in that period. * * I am a bad biologist, but I have a degree in Mathematics and I would say I'm a competent programmer. I should be able to stitch together a minimal bioinformatics pipeline, if required, with the assistance of my cousins (two of whom have Ph.D.s in Molecular Biology). * I trusted the WGS process more because of greater effective transparency. At the end of the process, I requested and obtained the FASTQs for our embryos. This is far superior to receiving a Detected / Not Detected result.