🧬 The SNPPET #16: cancer predisposition syndromes & aneuploidy rates; 4D Nucleome; group genetic counselling; and more...

 👋 Hi Genetic Counsel(l)ors & friends 

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! 💙!🍿

Event Updates: 🎤

• Missed our January Innovation Exchange with Tamara Hussong Milagre, Founder of EVITA, (The EVITA patient platform for hereditary cancer syndromes) and Sarah Wynn, CEO of Unique (Key findings and implications for GC practice from a survey of 2000 individuals affected with genetic diseases) Watch the recording here!

• Our next GC Speed Connect will be on March 12th 5pm CET/11am US Eastern. Limited spots. Register here to meet and connect with GCs from around the world.

📅👥 GCPSN needs volunteer interviewers for their 1-on-1 mock interview event on February 3rd at 6:15 pm PST. Each GC will lead 2 sessions with current applicants. Fill out this form. Great way to give back to future colleagues!

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 🌟 

🦻🧬 Regeneron's DB-OTO gene therapy delivered functional OTOF genes to 12 patients with autosomal recessive deafness 9, with 11 out of 12 developing improved hearing within weeks. Nine patients no longer needed cochlear implants and achieved natural hearing—six could perceive soft speech and three could hear whispers! The publication can be accessed here

🧬💊 PacBio partners with n-Lorem Foundation and EspeRare to advance individualized antisense oligonucleotide (ASO) therapies for ultra-rare genetic diseases. PacBio's long-read whole genome sequencing will help design personalized treatments by capturing variant phasing, structural variations, and repeat expansions often missed by standard sequencing. n-Lorem Foundation provides free, individualized ASO therapies for life to patients with the rarest mutations—a game-changer for the nano-rare community!

💊💰 America's most expensive drugs are dominated by gene therapies!
Lenmeldy tops the list at $4.25M per dose for metachromatic leukodystrophy, followed by Keblidi at $3.95M for AADC deficiency. For perspective: one Lyfgenia dose costs the same as 9,000 Ozempic doses! Eight of the top 10 are gene therapies treating ultra-rare conditions like Duchenne muscular dystrophy, sickle cell disease, and spinal muscular atrophy.

Industry-related 🌟 

💼📈 Qiagen is weighing strategic options including a potential sale amid fresh takeover interest from U.S. strategic companies. The Netherlands-based diagnostics company has attracted multiple takeover attempts over the years but none materialized. Early stage talks, no guarantees. Illumina maybe?

🇪🇺 EU Parliament publishes results from March 2025 public consultation on rare diseases, revealing deep and persistent inequalities across Europe. Sciensano's analysis (conducted for the Committee on Public Health) highlights long diagnostic delays, geographical disparities in specialized care, and insufficient patient involvement in decision-making. 📊⚠️

Key recommendations: Strengthen cross-border care and develop a comprehensive European Action Plan for Rare Diseases to improve health equity. Results will shape future EU policy action. Full report | Factsheet 🧬🏥

🧬👶 ERN GENTURIS released comprehensive guidelines for reproductive counselling in cancer predisposition syndromes (CPSs)—covering everything from Li-Fraumeni syndrome to Lynch syndrome. The 16 recommendations emphasize proactive counselling for all CPS patients and families, addressing the complex decisions around prenatal diagnosis, PGT-M, and 50% inheritance risk. Finally, standardized guidance for one of genetic counseling's most challenging areas!

📚🤰 New analysis of 2023 SART data by Cooper Genomics team shows PGT-A prevented nearly 15,000 miscarriages and over 6,500 preterm births in the US last year. Powerful real-world impact data for preimplantation genetic testing.

📚🧬 The 4D Nucleome Consortium's groundbreaking Nature study maps >140,000 chromatin loops and reveals how the human genome folds in 4D space and time. This isn't just sequencing anymore—it's understanding how DNA's physical architecture drives gene regulation and disease. Game-changing for precision medicine!

🧬🔬 Genetic landscape study of 3,627 women with oocyte/embryo defects causing IVF/ICSI failures reveals 13.2% diagnostic yield from 37 known genes, with TUBB8 mutations accounting for 47% of positive cases. Researchers identified 123 novel candidate genes and functionally validated 5 genes (CNTD2, SPDYC, DDOST, INCENP, MLH3), highlighting the importance of genetic counseling for infertile patients with oocyte/embryo defects.

Professional Issues, Training and Tools 🌟 

📚👥 New study of 25 BIPOC genetic counseling students reveals how power dynamics and structural factors impact clinical supervision experiences. Researchers propose integrating psychological safety principles with the Reciprocal Engagement Model of Supervision (REM-S) and creating personalized SMART goals to enhance learning for underrepresented students.

📚👥 New study explores genetic counselor experiences with group genetic counseling using 2024 NSGC Professional Status Survey data plus interviews with 7 genetic counselors. Researcher found 4 core themes including decision factors, benefits, limitations, and implementation recommendations. Group GC is being used across all NSGC regions and specialties—from hospitals to commercial labs. GCs report enhanced efficiency and improved access to care, but note administrative barriers like increased follow-up and scheduling challenges. First study to explore telehealth group genetic counseling from the clinician perspective!

🧬📊 Andrea Shugar launched GeneSlide - a browser-based app that auto-generates educational slide decks for patients with rare genetic disorders. Just enter the condition name, causative gene, pick images, and get a customizable deck from reputable sources. Game-changer for patient education! 🎯

💼 Job Opportunities (EMEA, UK)

New this month:

• Clinical Genetic Counsellor (Tawam Hospital)  - Abu Dhabi, UAE

• Medical Science Liaison (remote) - Switzerland

• Rare Tumors Medical Science Liaison - Portugal

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!! 

🤝 📅 Quarterly: 2nd Thursday in March/Jun/Sept/Dec at 11AM EST / 4PM BST / 5PM CET  

📅 Next event: March 12, 2026. Register Here

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!!

• ACMG - Baltimore, US; March 10-14, 2026

• 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

🎓 The Evolving Role of Genetic Counselors in the Era of MCEDs by GRAIL, Inc. Feb 4, 2026, 10:00 AM - 11:00 PM PT (Virtual webinar)

🎓 Need CEUs? The Jackson Laboratory offers online courses for genetic counselors available anytime! Flexible, self-paced learning to maintain your certification. Browse their course catalog and earn CEUs on your schedule. Perfect for busy GCs! 💻🧬