blogAdmin, Author at Gene Cuisine: satisfying your appetite for genetic news and information

CHEK2-Associated Cancer Risk and Screening Recommendation Updates

Cancer, Genetic Counseling, Genetic Testing, Health / By blogAdmin

Until last week, National Comprehensive Cancer Network (NCCN) guidelines reported that CHEK2 pathogenic variants (or risk-increasing genetic differences) are associated with an increased risk of colon cancer, citing a 5%-10% lifetime risk. NCCN recommended that carriers of a CHEK2 pathogenic variant begin colonoscopy screening earlier than typically recommended, at age 40, and repeat this screening …

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PLUGS Summit 2024

Uncategorized / By blogAdmin

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, …

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Causation versus Susceptibility: Alzheimer’s Disease, Genetics, & APOE

Neurology, News / By blogAdmin

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 …

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Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families

Advocacy, Genetic Testing / By blogAdmin

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.

Silhouettes of 44 people encircle the text, “Updated 23andMe test still misses moist people with BRCA1/2 hereditary cancer risks”. About 1 in 4 of the people are colored in red and the rest are colored in pink. The pink silhouette is intended to represent people who carry a BRCA1 or BRCA2 pathogenic variant that would be missed by the 23andMe test.

The Value of Knowledge and the Cost of False Reassurance: Understanding the Updates to 23andMe’s BRCA Genetic Testing

Cancer, Genetic Testing, News / By blogAdmin

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.

What’s in a (Noninvasive) Name?

Genetic Testing, Pregnancy / By blogAdmin

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 …

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A note of reflection and gratitude as we close out another year at GSF

Uncategorized / By blogAdmin

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 …

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At-Home Genetic Testing for the Holidays: Think Before You Gift

Uncategorized / By blogAdmin

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 …

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GSF Extends Reach Thanks to the Gibbs Family Foundation

Uncategorized / By blogAdmin

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 …

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The Diagnosis Moment

Advocacy, Genetic Counseling, Genetic Testing, Pregnancy / By blogAdmin

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 …

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