If you have heard GSF board member, Stephanie Meredith, share her research on the experiences of patients and families who have received a prenatal or postnatal diagnosis of Down syndrome, you will be familiar with the term “flashbulb memory”. The term flashbulb memory was introduced to describe memories of emotionally charged, traumatic or surprising events …
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 …
Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives Read More »
By Deborah Westover, MSN, RN, CNL, CNRN & Rachel Westman, MS, CGC Dementia is a generic term commonly used to describe a decline in a person’s cognitive functioning, such as changes in their memory, judgment, or reasoning. Dementia is an umbrella term, meaning it covers a broad category of disorders that affect the brain. Dementia …
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 …
Mitochondrial Disease in the News; the darker reality of living with a rare disease Read More »
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 …
by Julie Simon, MS, CGC In the new mini-series Limitless, Chris Hemsworth sets out to explore ways to combat aging and live a long and healthy life. It will come as no surprise to most that the answer lies in being active, eating well, and spending time with your friends and family. Sure, there are …
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 …
ACOG Guidelines on Prenatal Screening for Aneuploidy Read More »
Skin cancer is by far the most common cancer, with most skin cancers being basal cell carcinomas and squamous cell cancers. More rare are melanomas, which are a more serious type of skin cancer. Although they make up only 1% of all skin cancer diagnoses, melanoma is responsible for the most skin cancer deaths. What …
Understanding Melanoma: Genetic and Environmental Factors Read More »
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) …
Carrier Screening Tests for Expecting Parents: A Discussion on VUS Read More »
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 …
“How to Spit” A guide on how to provide a saliva sample for genetic testing Read More »
