🧬 The SNPPET #10: ESHG stories, participate in THE FIX, Innovation Exchange, 23andme plot twist, and more...

 👋 Hi Genetic Counsel(l)ors & friends 

🌟 It was lovely seeing everyone in Milan at ESHG!! And we are back with several highlights from ESHG, the new best drama series in town: the 23andMe Saga  🍿 and info on our upcoming SNPPET events.

As you heard last time, our focus is now on community building and events to bring you all together. 🤝 Our first GC Speed Connect event in June was a big hit! 🎉 Registrations are now open for our next one on Jul 3, 2025. Sign up as the 6 spots will go fast!! ⚡

We have also lined up 3 amazing speakers for our quarterly Innovation Exchange on July 15th, 5pm CET. 🚀 Register to attend and listen to the stories of Bob Resta, Baharak Mohammadi and Kendra Schaa! 👏

Next is A SPECIAL EVENT ALERT FOR OUR READERS!!! 🚨 If you're interested in innovation, startups, or considering a move to industry or non-traditional roles, below is a great opportunity for you!! 💼✨

THE FIX

🚀 VOYAGERS (a not-for-profit health & climate community) is hosting THE FIX - a health-tech festival we think you will love! Bringing together ~800 healthcare innovators to make real connections and have meaninful conversations and showcase groundbreaking ideas. 🎪🤝

Picture this: DJ set from a former UK Health Minister, Nobel Prize winner on protein-folding, experts on clinical psychedelics, longevity science & women's health - plus music & art! 🎵🎨🏆

We, the GC community, have been invited to add a genomics/genetic counseling element, so this is your chance to represent our community!
🧬 Use code "SNPPET" for 20% discount (half-price for under-25s & NHS workers)!

Join us? 

📅 Sept 18th, 2025, all day
📍 Harwell Science Campus, Oxfordshire, UK

(This is NOT a paid promo & the SNPPET does not receive any compensation)

Now onto the newsletter!!

This Issue:

• ESHG Highlights

• Therapy and Industry-related

• 23andme Saga: The Timeline

• Publications and Guidelines

• Professional Issues and Training

• Jobs

• SNPPET Events and Calendar

• Conferences and Events

• Webinars, Podcasts, Courses

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ESHG Highlights 🌟 

🧬 Dr. Steven McCaroll from Howard Hughes Medical Institute (HHMI) discussed their recent publication on Huntington's Disease pathogenesis - the 36 CAG repeat length isn't actually the threshold for toxicity, but rather it's a threshold for somatic instability. 🔬🧠

🧬 Dr. Edwige Kasper from Rouen University Hospital in France presented a concerning case: sperm from a donor with a Li-Fraumeni pathogenic variant was used to conceive 67 children across Europe between 2008-2015. 👶 10 children have since been diagnosed with cancer. This case highlights the need for international guidelines on donor limits and ethical oversight. ⚠️🤔

🧬 Dr. John McDermott from the University of Manchester presented on their PROGRESS study that integrates pharmacogenomic data into electronic health records in both GP practices and hospitals to help with choosing the right treatment for each patient. 💊💻

Therapy-related 🌟 

💊🧬 Sarepta Therapeutics has been granted platform technology designation by the U.S. FDA for the rAAVrh74 viral vector used in the investigational gene therapy SRP-9003 (bidridistrogene xeboparvovec) for the treatment of limb-girdle muscular dystrophy type 2E/R4.

💊🧬 The US FDA held a cell and gene therapy 90-minute roundtable where they promised to slash costs and time to market. 💰⚡ The US Secretary of Health and Human Services asked assembled scientists to provide a list of regulations they would like to see removed. This might lead to a major shift in how treatments come to market. Harmful or helpful? 🤔TBD 👀

Industry-related 🌟 

🧪⚖️ The FDA's LDT appeal deadline has passed - they didn't file an appeal in the AMP vs. FDA case. The ruling stands: FDA lacks authority to regulate LDTs (including genetic testing) as medical devices. Ball's now in Congress's court to clarify who oversees lab tests. This ends (for now) the long-standing LDT regulation debate. 📋

🧬 After delivering research DNA results to more than 228,000 participants, the All of Us project is transitioning to clinical testing supported by Color Health's testing and genetic counseling. 🔬➡️🏥

🧬 Everygene, a new genomic testing company founded by the genetics expert, Birgit Funke (an experienced geneticist), is now offering clinical genetic testing for patients with cardiomyopathy at NO COST in the US. 💝🇺🇸 Please reach out to her if you're interested in working together to set up a low or no cost program in your country! 🌍

23andme Saga: The Timeline 🌟 

🧬The 23andMe story just keeps getting juicier - so much drama🍿 :

19 May 2025 - Regeneron was announced as the successful bidder for 23andMe 🏆

2 Jun 2025 - Founder Anne Wojcicki asked courts to reopen bidding after finding a financial backer (speculated to be Oracle). She claimed the auction was unfairly tilted toward Regeneron Therapeutics. 😤

11 Jun 2025 - 27 states and DC filed a lawsuit to stop the sale of 23andMe's consumer genetic data without express consent from each customer. ⚖️😱

13 Jun 2025 - PLOT TWIST! 🤯 Anne Wojcicki reaches agreement to buy back 23andMe via a newly setup non-profit called TTAM Research Institute (check out that one-page website 😮🚩) for $305 million USD. 💰

Will it be different this time? Does being a non-profit research institute give them an advantage with all that data? Remains to be seen!! 🍿👀🤔

Publications and Guidelines 🌟 

🩸 NCCN Guidelines v1.2025 for colorectal cancer screening now include blood-based screening as an option for average-risk individuals. Those with positive bb-cfDNA tests are recommended to have colonoscopy ASAP and no later than within 9 months. 🔬

🧬 Nature publication alert! Researchers used cytosine and adenine base editing to reduce trinucleotide repeats in patient cells and mice, showing significantly reduced repeat expansion in the CNS. A potential therapeutic avenue for Huntington's Disease and Friedreich Ataxia! ✂️

🌍 Shenbagam et al. surveyed Middle East healthcare providers delivering genetic counseling services, exploring provider experiences, patient attitudes and cultural/psychosocial factors around genetic testing. Results highlight unique cultural considerations and regional challenges. 📊

🏥 Wondering how GCs can integrate into primary care clinics and transform healthcare delivery and access to genomic medicine for all? This article explores the pathway! 💡

📈 New article characterizes the 2023 medical genetics and genomics workforce in the United States - essential workforce data! 👩‍⚕️

Professional Issues and Training 🌟 

🇬🇧 The NHS genetics team launched an introductory education programme for healthcare professionals who have been/ will be involved in consenting patients and requesting genomic tests. Share with colleagues who might find this helpful! 📚👩‍⚕️

🇺🇸 US GCs need CEUs? Katharina Schwan created a free, searchable dashboard for NSGC-approved CEU opportunities. 🎯 It's community-driven - send events to [email protected]! 📧✨

Want to be featured in the SNPPET? Share your events, publication, ideas, job postings

💼 Job Opportunities

• Genetic Counsellor, Basic Grade, St. James Hospital - Dublin, Ireland

• Senior Genetic Counsellor, St. James Hospital - Dublin, Ireland 

• Healthcare Partnership Manager, TriNexT - Paris, France

• Genetic Analyst, Centogene - Belgrade, Serbia

• Genetic Counselor - Riyadh, Saudi Arabia

• Genetischer Beratungsassistent / Genetic Counselor, SYNLab - Mannheim, Germany

• Implementation Scientist, SOPHiA GENETICS - UK, Switzerland, France, and Germany (4 positions)

• Field Application Scientist, SOPHiA GENETICS - Rolle, Switzerland

• Conseiller ou Conseillère en génétique, HUG - Hopitaux Universitaires de Genève - Switzerland

• Conseiller·ère en Génétique & Medical Science Liaison (MSL) - Genève, Switzerland

• Field Application Specialist - Genomics, Hartmann Young - Europe 

• Medical Science Liaison, Northern Europe, Rare Neuromuscular Disorders, Amplity - Northern Europe, UK, DACH

• Venture Scientist / Founder: global venture creation PhD program (funded scholarship), Deep Science Ventures - Remote

• Community Engagement & Research Officer, NHS - UK (Deadline to apply June 16th!)

• Technician/Project Manager for Neonatal Screening Project, CRINGENES Pilot Project - Málaga, Spain

• Scientific Project Manager (Research Grants & Client Projects), WhiteLab Genomics (Station F) - Paris, France

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!! 

✨ This monthly event happens the first Thursday of each month (first-come-first-serve). So block your calendars and wait for our monthly registrations to open! (Or subscribe to our SNPPET Calendar)

📅 Next session: July 3 at 11AM EST / 4PM BST / 5PM CET / 8:30PM IST - Register  ONLY 6 SPOTS every month so act fast!!!

2. 🚀 The SNPPET Innovation Exchange - Quarterly Showcase 

Share your wins, research, and projects with the community!
Each 60-minute session features 3-4 presenters giving 8-minute highlights of their work, followed by networking.

🤝 📅 Quarterly: 3rd Tuesday in Jan/Apr/Jul/Oct at 11AM EST / 4PM BST / 5PM CET  📅 First event: July 15, 2025 . Register here to attend

 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 

Upcoming Conferences and meetings:

• European Society of Human Reproduction & Embryology (ESHRE), Paris: Jun 29 - Jul 2 2025

• THE FIX, Oxford countryside: Sept 18 2025

• American Society of Human Genetics, Annual Conference, Boston: Oct 14-18 2025

• European Society of Molecular Oncology, Berlin: Oct 17-21, 2025

• International Conference on Human Genetics, Rome: Oct 16-17 2025

• National Society of Genetic Counselors (NSGC), Annual Conference, Seattle: Nov 6-10 2025

  • Registration now open, early bird deadline: Sept 18 2025

💻️  Educational courses, podcasts, webinars