Can I test my embryos for heart disease? schizophrenia? diabetes? Preimplantation genetic testing
This week I collaborated with Dena DNA and Rachel Silva Smith, two other YouTubing genetic counselors. We are all dropping videos on polygenic risks scores (PRS) today.
Today, I am super excited to share my thoughts on preimplantation genetic testing for polygenic diseases (PGT-P) or how polygenic risk scores can be applied in reproductive medicine through embryo testing. Yes... these are a lot of big words, but it's not that complicated and this is a fascinating and controversial topic you will want to be aware of if you're interested in genetic counseling.
With PGT-P patients could screen their embryos for risks for certain polygenic diseases like schizophrenia, hypertension, prostate cancer, diabetes, and more. In this video I'll explain how it works. There are still many limitations and relevant concerns about PGT-P and when screening embryos for polygenic diseases, the benefits may be limited. This video is meant to be a quick introduction to the technology and some considerations. If you are interested in PGT-P, speak with your doctor to learn more.
Earlier this year, a company called Orchid, caused a big stir in the genetic counseling community. Orchid is offering PGT-P for 10 polygenic diseases utilizing PRS technology. Check out their website here: https://www.orchidhealth.com/
I didn't see much/any participation in the debate from genetic counselors who practice in assisted reproductive technology. I think without a doubt, PRS will be applied to embryos more widely in the next decade, but it's a complicated topic- there are limitations to the testing, major ethical concerns, and it can look like a slippery slope. But ultimately the goal in assisted reproductive tech is to help people have healthy babies and if PRS can be harnessed to do so I believe it should be available. Of course, as a genetic counselor, I believe patients should be well-counseled on the limitations, risks, and benefits of the testing before they consider proceeding and as with all genetic tests, PGT-P should be optional. I also think there is quite a bit to unpack regarding social justice concerns and ethical concerns, but this video is skimming the surface! Please comment below with your thoughts and questions about PGT-P and the application of PRS scores on embryos. If you like this topic let me know, and I will dive deeper in with a future video- I could talk about this topic for DAYSS.
Also check out some of these resources for a deeper dive on the arguments against PGT-P:
https://www.aboutgeneticcounselors.or...
https://www.aboutgeneticcounselors.or...
Check out Dena DNA's video where she explains PRS using animations and be sure to subscribe and follow her on YouTube, Instagram, TikTok, and Clubhouse: • Video
Check out Rachel Silva Smith's video where she explains how PRS can be applied in a cancer setting and be sure to subscribe and follow her on YouTube and Instagram: • Using Polygenic Risk Scores to Predic...
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