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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 …

CHEK2-Associated Cancer Risk and Screening Recommendation Updates Read More »

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, …

PLUGS Summit 2024 Read More »

Part 1: We work hard for the money (and by money, I mean $29.61) By Katie Stoll, MS, CGC In this series, we will review challenges with reimbursement for genetic counseling services. The current system undervalues genetic counseling, leading to a strain on clinics and hospitals, overutilization of genetic tests, burnout for genetic counselors, and …

Financial Challenges in the Fight for Independent Genetic Counseling Services 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 post Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families appeared first on Gene Cuisine: satisfying …

Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families Read More »

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 …

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

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 …

What’s in a (Noninvasive) Name? Read More »

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 …

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