Category

Genetic Testing

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The Diagnosis Moment

ART 2

Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives

Sept 2023 Newsletter Alzheimer Disease (1)

Dementia, Drugs, and DNA

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Mitochondrial Disease in the News; the darker reality of living with a rare disease

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LGBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation: Series 2: Nod towards Cisgender, Heterosexual couples

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The Limits of Limitless

Genetic Testing

Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives

By Katie Stoll The Polygenic Embryo ELSI Research “PEER Group”, an NHGRI-funded research consortium that aims to build an initial framework for the consideration of the ethical, legal, and social implications (ELSI) of Polygenic Embryo Screening (PES), recently hosted a conference titled, Ready or Not? The Science and Ethics of Polygenic Embryo Screening. I was …

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Mitochondrial Disease in the News; the darker reality of living with a rare disease

By Devin Shuman (she/her) Living life as a genetic counselor with mitochondrial disease may appear to mostly involve taking selfies with mitochondria jewelry and plushies from etsy. And while that might be a defining part of my rare disease lived experience, there are three current news stories that highlight the darker side of my rare …

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LGBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation: Series 2: Nod towards Cisgender, Heterosexual couples

By Devin Shuman, MS, CGC and Jenny Rietzler, MS, CGC Hopefully after reading part one of our new series, LQBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation, you’ve reviewed the ASRM recommendations and realized that their failure at inclusivity extends far beyond their discriminatory practices …

LGBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation: Series 2: Nod towards Cisgender, Heterosexual couples Read More »

ACOG Guidelines on Prenatal Screening for Aneuploidy

In October 2020 the American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal Fetal Medicine (SMFM) released an updated practice bulletin regarding genetic screening and testing for chromosomal abnormalities during pregnancy. You may ask, why is this important? Why or how does this impact me?  Let’s start with, who are these organizations …

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Carrier Screening Tests for Expecting Parents: A Discussion on VUS

My colleagues and I were recently discussing some issues around carrier screening, particularly when it comes to variants of uncertain significance (VUS). As the name implies, VUSs are changes that are found in a gene that have not been seen enough to know whether they affect how the gene works (and thus can cause disease) …

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“How to Spit” A guide on how to provide a saliva sample for genetic testing

You’ve just received your very own saliva collection kit- congratulations! Now you’re left with the somewhat daunting task of providing a sample. Set aside etiquette concerns and start thinking about your favorite meal or snack- let’s get those saliva glands into full gear! Step 1: Nothing by mouth for 30 minutes I hope you read …

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