As a rare disease genetic counselor – who both has a rare genetic condition and serves rare disease patient populations as a provider – I have a Rare Disease Day Public Service Announcement for you: Do not order Direct-to-Consumer testing.
The recent update to 23andMe’s DTC test in September 2023 expanded their BRCA1/2 analysis to detect a total of 44 specific variants, including those evaluated previously1. This certainly will increase the detection of genetic variants in the BRCA1 and BRCA2 genes for individuals beyond those who are of Ashkenazi Jewish ancestry. However, given that there are thousands of genetic variants in these two genes that are associated with hereditary cancer risks, it is important to recognize that the updated 23andMe test will still miss the majority of people with BRCA-associated hereditary cancer risks.
More than a decade since a new prenatal screening test was made available clinically. And in these years, healthcare providers have just started to agree on what to call it. When Sequenom first launched the MaterniT21 screen for Down syndrome in 2011, this type of testing was labeled “Noninvasive Prenatal Diagnosis” or NIPD. The promotion …
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 »
