🧬 The SNPPET #11: First Innovation Exchange; NHS' 10-year-plan; personalised CRISPR cures; AI vs Doctors....

 👋 Hi Genetic Counsel(l)ors & friends 

🌟Our first SNPPET Innovation Exchange is here: July 15th 2025, 5pm CET/11am EST🌟 Last chance to REGISTER and attend!

SPEAKERS and TOPICS:
Bob Resta:  “What The Maps Tell Us About The Mapmakers: The biases and subjectivity of geneticists”

Baharak Mohammadi: ”Genetic counseling of mosaic embryos: Current perspectives and future directions”

Kendra Schaa: “The importance of peer counseling supervision among genetic counselors and genetic counseling students” 

We also have our next GC Speed Connect on August 7th at 11AM EST / 4PM BST / 5PM CET / 8:30PM IST. Sign up as the 6 spots will go fast!! ⚡

See below for all of our upcoming SNPPET events and subscribe to our SNPPET calendar to not miss any of our future events.

💼 Participate in / Share Research

Monisha Sebastin & her team are conducting a study to create a global directory of genetics and genomics providers.🌎 The survey has two parts: 

1. Assessing the needs and potential utility of such a directory

2. Collecting basic demographic details for inclusion in the directory (Please complete the first survey to enter the second survey) 

👉  Participate here

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 and Industry-related 🌟 

💊🧬 The Chan-Zuckerberg Initiative has announced 20M$ in grant funding to build on work of Jennifer Doundna’s Innovative Genomics Institute to develop personalized CRISPR treatments with the launch of the Center for Pediatric CRISPR Cures.

💊🧬 🔬 Columbia University researchers developed a rapid genetic testing method that enhances diagnosis of rare immune disorders. Applied to activated-PI3Kδ syndrome (APDS), it uncovered dozens of previously unrecognized pathogenic variants - many formerly classified as VUSs. 💡 This allows faster, more precise diagnoses, crucial since FDA-approved therapy leniolisib is available for APDS. The approach will expand to other rare immune disorders! Read more 🧬✨

🌟 Florida becomes first US state to offer whole genome sequencing to all newborns! The Sunshine Genetics Act, signed July 10th, will screen for rare pediatric diseases from day one through comprehensive genomic testing. This groundbreaking initiative aims to enable early detection and intervention for genetic conditions. 👶🧬✨

🇬🇧 UK Government's new NHS 10-Year Plan makes genomics one of 5 "big bets" for healthcare transformation (alongside AI tools, data interoperability, wearables, robotics). 🧬🤖 The plan includes universal newborn genomic testing, polygenic risk scores for 5 million participants via Our Future Health, and pharmacogenomics integration. Goal: shift from specialist testing to "mainstream genomics population health" by 2035. 📊 Read the response from the UK’s Association of Genetic Nurses and Counsellors (AGNC) 

🇬🇧 The UK announced that under the new NHS 10-year plan, every baby will have their complete genome sequenced using umbilical cord blood to screen for risk for hundreds of diseases! — Building on the Generation Study already recruiting 100,000 newborns 👶🧬 📰

Publications and Guidelines 🌟 

🚨 NEW ACMG SF v3.3 secondary findings list released! This 2025 update adds 3 genes - ABCD1, CYP27A1, PLN - to the recommended minimum gene list. Also check out the family perspective on ABCD1 testing for X-linked adrenoleukodystrophy in newborns. 📋🧬

📎 The Spanish National Commission on Assisted Human Reproduction unanimously approved PGT-M recommendations. These guidelines help interpret the law surrounding embryo selection for serious diseases. 🇪🇸⚖️

📚 Sebastin et al explored job search experiences of international GC students in the US. Found significant support gaps from programs, especially regarding STEM visa extensions and career guidance. 🌍🎓

🫀 Morales et al discuss implementation of cardiac genetic testing - covering barriers and suggestions to move the field forward. Worth the read! 💪

A few interesting publication on how health systems are working to utilize LLMs and AI Chatbots to increase efficiency and improve diagnostic capacity.

⚡ This pre-print (non peer reviewed) highlights LLM chat integrated in Epic EHR at a European hospital for chart summarization and clinical reasoning support. Clinicians loved it for synthesizing dispersed info, though diagnostic use remained limited. PHI protection and accuracy are still concerns! 🤖 

🩺 Microsoft's AI vs. Doctors: New study (in pre-print) tested diagnostic AI on 304 of medicine's hardest cases from real Mass General Hospital patient records. Results: AI diagnosed correctly 85% of the time vs. doctors at 20% - that's 4x better accuracy! 🤯 The MAI-DxO system achieved this with fewer, targeted tests and lower diagnostic costs. Limitations⚠️ Doctors were not allowed internet or external sources and were generalists reviewing specialist NEJM cases. 📊Standout strength: Explicit cost-benefit analysis showing AI didn't just "order every test." Microsoft's blog suggests this could accelerate diagnostic features in consumer health search. 💡🔍

Professional Issues and Training 🌟 

 ✅ New resource! The The Arab Variant and Disease Burden Database (AVDB) is a comprehensive and publicly accessible platform designed to facilitate exploration of gene- and variant-level insights from Arab population cohorts, starting with the Emirati population. 🌍🧬

🇬🇧 The AGNC responds to NHS 10-Year Plan: They firmly state that "innovation needs delivery" and call for urgent workforce action., including👩‍⚕️ ring-fenced funding for GC recruitment and retainment, integration of new graduates, and stronger collaboration between genomic services. 💪 Please share their post and your thoughts on LinkedIn! 🧬📢

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

💼 Job Opportunities

• Senior Genetic Counsellor - Dublin, Ireland (deadline to apply 16-07-2025!)

• Genetic Data Analyst (Childhood cancer and blood disorders), Vall d’Hebron Research Institute - Barcelona, Spain (deadline to apply 18-07-25!)

• Genetic Analyst, Centogene - Belgrade, Serbia

• Genetic Counselor , Al Borg Diagnostics- Riyadh, Saudi Arabia

• Genetic Counselor- Vitrolife Group - Dubai, UAE

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

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

• 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

• Genetic Counselor, University Hospital Brussels - Brussels

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: Aug 7 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  📅 Next event: Oct 17, 2025 . 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:

• 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