PLUGS (Patient-centered Laboratory Utilization Guidance Services) is a non-profit laboratorystewardship organization founded in 2013 with >100 members representing hospitals, healthsystems, diagnostic companies, patient advocacy groups and payers. Seattle Children’s servesas the quarterback for the network which engages diverse stakeholders focused on improvingtest stewardship. The mission of PLUGS is to improve laboratory test access, ordering, …
By Chase Beeler, Rachel Westman, and Devin Shuman New Developments A recent study published in Nature Medicine, and a follow up article in the New York Times, has added to and challenged our understanding of the genetics of Alzheimer’s Disease. Based on the data analyzed, this study is claiming that a specific variant in the …
Causation versus Susceptibility: Alzheimer’s Disease, Genetics, & APOE Read More »
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 …
As we get ready to close out 2023, we reflect on and celebrate our achievements for the past year. Genetic Support Foundation continues to break down barriers to access to genetic counseling for underserved communities. From our founding, we have defined our success as every patient having equitable access to genetic counseling so each can …
A note of reflection and gratitude as we close out another year at GSF Read More »
It’s that time of year again; time for the barrage of advertisements and commercials trying to sell at home genetic testing. It’s rare to go an hour without being inundated by companies like 23andMe and Ancestry.com, offering their best deal ever to provide you a crystal ball that can answer all of your lingering questions …
At-Home Genetic Testing for the Holidays: Think Before You Gift Read More »
We are honored to announce that Genetic Support Foundation (GSF) was awarded funding through the Gibbs Family Foundation to expand our no cost and subsidized genetic counseling services in the state of Wisconsin next year. Through this initiative we will be partnering with Wisconsin healthcare providers to offer genetic counseling services to their patients, while …
GSF Extends Reach Thanks to the Gibbs Family Foundation Read More »
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 »
