🧬 The SNPPET #13: 700 of you!!!; genetic moves in sports; poor quality blastocysts & live births; methylation signatures for VUS reclassifications and more....

 👋 Hi Genetic Counsel(l)ors & friends 

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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 🌟 

🧬💔 Capsida's STXBP1 gene therapy trial paused after first pediatric participant died. Despite the AAV therapy being designed for safety, possible causes include immune overreaction, off-target effects, or patient vulnerability. This adds to recent gene therapy deaths including Elevidys cases, highlighting early-stage risks in the field. 🧒🧠🛑

 🇦🇪 Abu Dhabi launches landmark Newborn Genetic Screening Programme using whole genome sequencing to screen for over 815 treatable childhood genetic conditions! 👶🧬 This positions it as one of the most comprehensive programmes worldwide

🏈 NCAA's sickle cell trait (SCT) screening has dramatically reduced athlete deaths - from 9 football deaths in 10 years pre-2010 to only 1 in 9 years after. However, new Duke/UNC study reveals major implementation gaps: many schools use inadequate testing methods, only 21% of coaches feel knowledgeable about SCT, and despite NCAA recommending genetic counseling for positive results, only 20% of colleges offer it and no athlete in the study had received genetic counseling after testing positive. 40%+ athletes didn't know they carried the trait before screening. 📊🧬⚠️

🏃‍♀️ In more sports news, the World Athletics mandates SRY gene testing for women athletes at September's World Championships….And as usual no genetic counseling is mentioned despite profound personal impacts. Dr. Andrew Sinclair, the scientist who discovered SRY in 1990 calling it "misguided." A World Athletics official defended their reasoning by citing that World Athletics data showed that 50-60 athletes with DSD have been finalists since 2000, with these athletes 151.9 times more likely to reach finals than expected. Here is 🧬⚖️

🧩 A new preprint asks "What happens after a rare disease finally gets its own ICD code?" The researchers looked into usage of syndrome-specific ICD-10 codes for genetic epilepsies: Despite having confirmed genetic diagnoses, only 56.4% of patients were ever assigned their correct syndrome-specific code, and when used, it appeared in just 31% of encounters (14.5% of all codes). 📊 This underutilization limits patient identification for precision therapies, clinical trials, and research - highlighting that securing ICD codes is just the first step. Authors call for automated coding tools and structured genetic data integration in EHRs. 🔬⚠️

Publications and Guidelines 🌟 

🧬🦠 New evidence highlights RPS20 as a colorectal cancer (CRC) predisposition gene. Among ~950,000 tested individuals, those with RPS20 loss-of-function variants had significantly increased CRC risk—often early-onset, mismatch repair–proficient (pMMR), and enriched for signet ring cell (SRC) pathology. Findings support managing RPS20 carriers similarly to those with MLH1-related Lynch syndrome. 🧪💡

🧬💉 What happens when your genetic information becomes someone else’s asset? This article explores how genomic data ownership is shifting—often away from the individual—and the consequences this has for privacy, consent, and equitable benefit. A must-read as the lines blur between public health genomics and commercial interests. 📊🔐

🩸🧬 In Ghana, where ~2% of babies are born with sickle cell disease (SCD), a new study explores how young adults perceive SCD and genetic counseling. Interviews revealed misconceptions, stigma, and low awareness of genotype testing—despite openness to genetic counseling as a tool for partner selection, emotional preparedness, and financial burden reduction. Highlights the urgent need for culturally sensitive public health efforts. 🇬🇭📚

🧫📈 Can poor-quality blastocysts (PQBs: CC, DC, CD, DD grades) lead to live births if they're euploid? A large study from London Women’s Clinic (n=7,332 biopsies) says yes. Though PQBs have higher aneuploidy and lower success rates, PGT-A testing identified euploid PQBs that resulted in live births—with fewer transfers and lower miscarriage rates than untested embryos. 

👁️🧬 A stepwise, patient-centered genomic approach boosted diagnostic yield in inherited retinal dystrophies (IRDs) from 59.6% to 67.6% after re-evaluation using WES reanalysis, targeted panels, WGS, and functional assays. Pathogenic variants in ABCA4, ATF6, REEP6, and TULP1 were confirmed, showing the value of iterative testing to catch structural and deep intronic variants missed initially. A strong case for reanalysis in unsolved IRD cases. 🔍

🔍🧠 A study of 298 patients at Erasmus MC in the Netherlands shows that DNA methylation (DNAm) signatures can help classify variants of uncertain significance and uncover missed diagnoses in those with neurodevelopmental disorders. Among unsolved cases, DNAm analysis had an overall diagnostic yield of 4.0% (9/223), supporting its use as a complementary tool when prior genetic testing, including exome sequencing, fails to provide a diagnosis.

📊⚖️ Over 20% of published RCTs in human health showed a mismatch between statistical significance and clinical importance—either statistically significant results lacked real-world relevance, or clinically important effects didn’t reach statistical thresholds. The takeaway? Researchers must consider clinical importance when interpreting trial outcomes. 🧪🩺

👶🧬 This first-of-its-kind study explores the experiences of patients who have undergone genome sequencing (GS) in non-anomalous pregnancies. Most sought maximal information, and GS results influenced decisions from pregnancy management to specialist referrals. 💡🍼

Professional Issues and Training 🌟 

⭐📚The book "Practical Problems and Approaches to Genetic Counseling.” edited by Priyanka Ahimaz-Shepel is out now and looks fantastic with chapters on several topics relevant to practice today such as the AI and Genomic Medicine chapter authored by Shivani Nazareth 

💼 Job Opportunities

New this month:

• Senior Grade Genetic Counsellor with a special interest in Children, Adolescent and Young Adult (CAYA) Cancer Genetics - Dublin, Ireland; Closing date 25 Sept

• Project Manager with Rare Diseases International - France, Italy, or Spain

• Genetic Counsellor, London Pregnancy Clinic - UK

• Senior Advisor, Provincial Genetics Program - Toronto, ON, Canada

• Principal Genetic Counsellor - Dublin, Ireland

• Clinical Scientist - London, UK

Previously listed:

• Genetic Counselor - Riyadh, Saudi Arabia

• Genetic Counselor- Vitrolife Group - Dubai, UAE

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

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

• Genetic Counselor, University Hospital Brussels - Brussels

• Reproductive Center Genetics Counselor, Emory Healthcare - Atlanta, USA

• Genetic Counsellor (60-100%), Mediclinic Group - Zurich, Switzerlan

• Genetic Counselor, Lifera Omics - Saudi Arabia

  • Seeking full-time counselors who are fluent in Arabic

  • Contact: Layan Badawi, People Attraction Sr. Specialist ([email protected]) or Dr. Khadijah Bakur, consultant genetic counselor ([email protected])

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: Sept 4 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 

🌟 Mark your calendars for the next Innovation Exchange on October 21st!! 🌟

SPEAKERS and TOPICS:

• Ana Morales: Implementation science for genetic counselors

• Kelly Tangney: All of Us Research Program return of clinical-grade DNA results to participants

‼️ Link to register to attend the October Innovation Exchange is here!

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 21, 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 

UHappening this month!!

• New! Connect CACNA1C Global Network Conference: Saturday 20 Sept 2025 at 3 PM – 7.30 PM BST

• 2025 CTGCA Annual Educational Conference - Friday, September 26, 2025 | The Jackson Laboratory for Genomic Medicine (Farmington, CT) | Submitted for approval of 0.725 NSGC Category 1 CEUs (7.25 contact hours)

Coming up soon!! Early-bird deadline for NSGC registration is Sept 18!

• 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

GeneDx webinar series - Genomics at the Bedside: Advancing Inpatient Care Through Rapid Testing

• Wednesday, September 17, 2025 at 12:00 pm-1:00 pm EDT

• 0.1 CEU

Natera webinar series: NIPT Evolved: New insights, real cases, and better decisions.

• Tuesday, October 7, 2025

• Session 1: 9 AM PT | 12 PM ET (Live Q&A with Dr. Sullivan)

• Session 2: 2:30 PM PT | 5:30 PM ET (Live Q&A with Dr. Shah)

ERN GENTURIS: the European Reference Network for all patients with one of the rare genetic tumour risk syndromes are hosting the following talks:

• September 24, 2025 at 16:00-17:00 CEST : APC mosaicism and panel testing depending on polyp count

• October 8, 2025 at 16:00-17:00 CEST: Heritable retinoblastoma – long-term follow-up and care

• November 12, 2025 at 16:00-17:00 CET: Hereditary childhood cancer

Find the links to register HERE.