🧬 The SNPPET #15: Gene therapy woes, DPYD updates to NCCN guidelines, Jan Innovation Exchange and more...

 👋 Hi Genetic Counsel(l)ors & friends 

Happy new year and wish you a wonderful 2026!
As we enter 2026, we would love your input on the SNPPET's future! 🎯 
We produce this newsletter and the events at our own expense to keep you informed about genetic diseases, gene therapy, and genetic counseling—and we want to ensure we are delivering what matters most to you.

Please take 2 minutes to complete our survey 📋 and help shape the SNPPET in 2026—your feedback on content, events, and timing will directly guide our plans.
Thank you for being part of this community! 💙!🍿

Some Changes for 2026: 📅

• Speed Connect moves to quarterly (from monthly)

• We are considering different time slots to better serve our global community

• Keep watching this space

Event Updates: 🎤

• Missed our October Innovation Exchange with Ana Morales (Implementation science for genetic counsellors) and Kelly Tangney (All of Us Research Program return of clinical-grade DNA results to participants), you can watch the recording here.  

• Next Innovation Exchange: January 20, 2026 with great speakers (Tamara Hussong Milagre, President at EVITA & patient advocate and Sarah Wynn, CEO of Unique) lined up! Register here!

Want to share an exciting project you’re working on?! Let us know!

Now onto the newsletter!!

This Issue:

• Therapy and Industry-related

• Publications and Guidelines

• Professional Issues and Training

• Jobs

• SNPPET Events and Calendar

• Conferences and Events

• Webinars, Podcasts, Courses

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Therapy-related 🌟 

🛑 Intellia Therapeutics and Regeneron’s highly anticipated nexiguran ziclumeran (nex-z) gene-editing therapy trials for ATTR amyloidosis (FAP/ATTR-CM) have been paused by the FDA and developers following a serious adverse event. A Phase 3 participant developed Grade 4 (life-threatening) liver damage shortly after dosing, leading to a temporary halt on the MAGNITUDE trials. The companies are now reviewing safety protocols to detect potential liver damage sooner and plan to resume enrollment once appropriate. 💉⚠️

🚨💉Pfizer has just announced that a person with hemophilia, in their marstacimab (Hympavzi) clinical trial program for Hemophilia A and B, has died from a thrombotic stroke. This incident follows Pfizer's recent decision to discontinue the global development and commercialization of another hemophilia treatment, the gene therapy Beqvez, due to low patient interest, and the withdrawal of its sickle cell therapy, Oxbryta after data showed a higher risk of death and complications.

🟢💉Novartis receives FDA approval for Itvisma®, gene therapy for SMA patients older than 2 years old including teens and adults. It is the only drug for individuals with SMA over the age of 2. One-time dose of Itvisma replaces the SMN1 gene, potentially reducing the need for chronic SMA treatment.

Industry-related 🌟 

👶🧬 Newborn WGS on the Horizon in Denmark? Denmark is considering introducing Whole Genome Sequencing (WGS) for all newborns, sparking a crucial debate! 🤔 A clinical geneticist reflects on the progress and challenges seen in the UK’s Generation Study. Key questions for implementation include: Which treatable conditions to report? How to handle inevitable uncertain results in a largely healthy population? And navigating challenges around true parental consent and balancing funding priorities with long clinical testing waitlists. 💡 Shared learning across countries is key!

💊🧬 OneOme, a pharmacogenetics testing company founded by Mayo Clinic and University of Minnesota, shut down earlier this year and sold its assets to Tempus AI. The acquisition adds PGx capabilities to Tempus AI's growing precision medicine platform. 💼

Publications and Guidelines 🌟 

🥳 NCCN has updated its colon cancer guidelines, officially recommending universal DPYD testing prior to fluorouracil (5-FU) based chemotherapy. 🔔 This major step brings precision medicine to the forefront of oncology, following FDA recommendations to protect patients from severe, potentially fatal toxicities associated with DPD deficiency. Test DPYD before chemo! 🧬💊

💸 FH screening not cost-effective: New study finds sequential screening for familial hypercholesterolemia (lipid test → genetic test) at age 10 or 18 years could avert 1,154-1,820 CVD events but isn't cost-effective vs usual care under base assumptions. 📉 However, screening could become viable if high LDL-C results (≥130 mg/dL) trigger increased lifetime lipid monitoring and lifestyle therapy—even for non-FH dyslipidemias. 💡

🚨 New risk assessment tools for clinical genetics developed after auditing 115 adverse events across European centers. Over 3% of appointments had adverse events, with failures in consent, sample processing, and patient discussions. The new toolkit includes a risk process map, frequency audit, and severity scoring. 📊✅

🏥 Integrating GCs into primary care faces pushback from administrative decision makers. Despite strong clinical rationale, barriers include team integration challenges, lack of buy-in, and resource constraints. Most feasible model: single GC serving multiple clinics remotely or hybrid. 💡

🤖 GPT-4 struggles with genetic consent forms. Testing across NIPT and BRCA consent materials in 4 languages showed AI excels at generating structured content but fails at nuanced ethical content. Healthcare providers overwhelmingly preferred human-written materials—especially for non-English languages. 💬🧠.

Professional Issues and Training 🌟 

🫀New open access book alert!! "Practical Aspects of Cardiovascular Genetic Counseling" by Dr. Despina Sanoudou 

💼 Job Opportunities

New this month:

• Genetic Counsellor - Centogene, Dubai, UAE

• Asesora de Genetica - Vitrolife, Spain

Looking to fill a position on your team? Or have internship opportunities at your work? Share your job here

The SNPPET Events and Calendar

🎯 Our New Focus: Bringing You Together

We have launched two regular live events designed to connect our global GC community: 🌍

1.🔗🤝 SNPPET's GC Speed Connect - Monthly Networking 

Seven-minute 1-on-1 meetings with five fellow GCs – your very own seven minutes in heaven!! 

Huge thank you to all who participated in speed connect this year! Stay tuned for an updated schedule in 2026!

2. 🚀 The SNPPET Innovation Exchange - Quarterly Showcase 

🌟 Mark your calendars for the next Innovation Exchange on January 20th 2026!!

More information on SPEAKERS, TOPICS and Registration: here

🤝 📅 Quarterly: 3rd Tuesday in Jan/Apr/Jul/Oct at 11AM EST / 4PM BST / 5PM CET  📅 Next event: Jan 20, 2026 . Interested in presenting? Fill out this form 📝

Sign up to The SNPPET Event Calendar 📅

Never miss newsletter deadlines, networking events, webinars, or conference opportunities! 🗓️ Add our new community calendar to stay connected: Click to access and add to your calendar

🗓️ Important dates, deadlines and reminders 

• Festival of Genomics and Biodata, ExCel, London: Jan 28-29 2026,

Get ready for next year!!

• HUGO –  Athens Greece; April 22-24, 2026

• ESHG –  Gothenburg Sweden; June 13-16, 2026

• Japanese Society of Genetic COunseling Annual meeting - Tokyo Japan;  July 31-Aug 2, 2026

• HGSA –  Christchurch NZ; Aug 1-4, 2026

• NSGC –   Baltimore US; Nov 10-14, 2026

• ASHG – Montreal Canada; October 20-24, 2026

💻️  Educational courses, podcasts, webinars

Check out Kate Wilson’s (certified GC) podcast with Natalie Samson (certified GC and certified Integrative and Functional Medicine specialist) on Nutrigenomics and Functional Health!