Rectangularly black flag with 5 straight lines going from the upper left corner to the lower right. The top line is a light kelly green, the second is a light sky blue, the middle stripe is white, the 2nd from the bottom is a light yellow and the bottom stripe is a light red.
July 22, 2022 is World Fragile X Syndrome Day, designated by the United States Congress in 2000 to raise awareness about Fragile X syndrome, the benefits of early diagnosis and to advocate for more research funding for treatment. What is Fragile X Syndrome? Fragile X syndrome (FXS) is one of the most common causes of …
Ryan Murtha spent his summer rotation with GSF. A student at Massachusetts General Hospital Institute for Health Professions, Murtha says he can’t wait to come back to the Pacific Northwest. Courtesy photo. In the fall of 2019, the prospect of an internship where I’d see patients primarily through Zoom seemed novel, if not a bit …
GSF Intern Reflects on Learning in the Time of Covid 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 »
In the world of genetics, we often use the term Knowledge is Power. Gaining that knowledge usually starts with a genetic counseling appointment, then spreads into research, support groups, podcasts, you name it. When it comes to those of us with hereditary cancer risk, we can often be hungry for even more knowledge. One of …
Must-Reads for Women with Hereditary Cancer Risk Read More »
The diagnosis of autism spectrum disorder (ASD) is more than just a label. The diagnosis not only impacts the individual but the entire family. After receiving a diagnosis of autism, questions may include – Why? What do we do next? How will this impact my child, me, my family? Where did this come from? What …
Reviewing your family and health history as well as your personal beliefs and goals with a genetic counselor can help you understand the current state of information we have with regards to genetics and Alzheimer’s disease and how this applies to your unique situation.
It’s a question every single genetic counselor has heard many times. It can be exhausting to explain over and over again, a constant justification for what you work so hard at every day. At a certain point, I started thinking. What IS a genetic counselor? I’ve had my stock responses, from the literal definition ‘I …
