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 »
The landscape of the genetic counselor workforce has shifted dramatically in recent years, in large part due to new opportunities for genetic counselors in genetic testing laboratory settings. According to the Professional Status Survey conducted by the National Society of Genetic Counselors, the number of genetic counselors who report a laboratory as their primary work setting …
Direct-to-consumer (DTC) genetic testing, or testing that can be ordered from your home without a medical provider, has blown up as an industry over the last 10 years. Some estimates have the global direct-to-consumer genetic testing market reaching $2.5 billion by the year 2025. So. Much. Money to be made! And these companies know it. …
Think Before You Spit: A Guide to Understanding At-Home DNA Testing Kits 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 …
Cell-free DNA (cfDNA), also going by the monikers of Noninvasive Prenatal Testing (NIPT) and Noninvasive Prenatal Screening (NIPS), screens for a handful of genetic conditions. The detection rate of cfDNA is high for many of these conditions, especially for Down syndrome. Many labs boast that their cfDNA is “greater than 99% accurate”. So what does …
