🧬 The SNPPET #17: Hims&Hers & Galleri; FDA halts more therapies; Medicare genetic testing fraud and more...

 👋 Hi Genetic Counsel(l)ors & friends 

I have recently been experimenting with Telegram Bots and built a weekly scientific literature digest and article summarizer bot to help me keep up with the overload of publications being churned out everyday. 📚🤖

Before releasing it to the public, I would love a few testers and some feedback to improve the bot. If you use Telegram and are interested in being a beta-tester, please fill out this form! 🧬✨

Event Updates: 🎤

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

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 🌟 

🧬💊 The FDA unveils sweeping changes to accelerate gene therapies - including flexible manufacturing rules and Bayesian statistical methods for faster trials. Plus: Zycubo approved as first treatment for Menkes disease - 78% reduction in death risk when started within 4 weeks of birth!

🧬💔 FDA froze two Regenxbio gene therapy programs targeting mucopolysaccharidosis type I and II (Hurler and Hunter syndromes) after finding a brain tumor in one 5-year-old Hunter syndrome patient treated 4 years ago. The trials had 41 total patients across both trials—40 with clean scans, some dosed 7 years ago. One program was 11 days from potential approval. Another sobering reminder of gene therapy risks in pediatric populations. 💔

🎉🧬 Congress passed a five-year reauthorization of the Rare Pediatric Disease Priority Review Voucher (PRV) Program, ending a two-year lapse! The FDA program has advanced therapies for 40+ rare pediatric conditions at zero taxpayer cost. Also included: the Accelerating Kids Access to Care Act (streamlining cross-state Medicaid access) and Give Kids a Chance Act (new pediatric cancer funding + Orphan Drug Act clarifications). Huge win for the 30 million Americans with rare diseases! 🙌

🧬💨 First-ever inhalable gene therapy for lung cancer gets FDA fast-track designation after showing tumor shrinkage in 3 out of 11 patients with advanced disease. Krystal Biotech's therapy uses a modified herpes virus to deliver interleukin-2 and interleukin-12 genes directly to lung cells via nebulizer.

🧬💊 Sanofi's venglustat met all primary endpoints in phase 3 LEAP2MONO study for type 3 Gaucher disease! This glucosylceramide synthase inhibitor crosses the blood-brain barrier and showed statistically significant improvements in neurological symptoms at week 52 compared to enzyme replacement therapy (p=0.007). A potential game-changer as a daily pill targeting neurological manifestations that currently have no approved therapies.

Industry-related 🌟 

🌍👶 iHope surpasses 3,000 children supported through their global genomic testing network. The organization has replaced years of diagnostic uncertainty with clear genomic answers that directly inform care for thousands of families worldwide.

🧬👶 BEACONS study finalizes 777 genetic conditions for genomic newborn screening across 7 U.S. states! Every condition is actionable in the first year of life - meaning early detection leads to better outcomes. They'll screen up to 30,000 infants over 3 years. Another step towards whole genome newborn screening! 🇺🇸

🚨💰 Florida lab owner Sean Alterman pleaded guilty to $52M Medicare fraud scheme involving unnecessary genetic testing. His labs billed $52M, collected $36M through telemarketing scams and "doctor chasing" tactics that tricked physicians into signing off on unneeded tests. Alterman pocketed $5.5M and now faces 15 years in prison—plus forfeiture of his estate and 2022 Rolls Royce Ghost 🏎️

🩸🔬 Hims & Hers launches Multi-Cancer Test by Galleri - a blood test that can detect signals for 50+ cancer types before symptoms appear. GRAIL's technology now accessible through Hims & Hers' digital platform, targeting cancers like pancreatic and ovarian that are often caught too late. This is a major move to democratize multi-cancer early detection (MCED) testing.

🚨📊 University of Washington researchers analyzed usage of the data from the Human Genome Diversity Project (HGDP) and found nearly 40% of studies misused Indigenous genetic data beyond original consent scope. The project collected samples from isolated Indigenous populations in the 1980s with questionable consent, yet, remains embedded in genomics research with little transparency about its contested origins.

🩸💊 Guardant Health gets FDA nod to expand their liquid biopsy for identifying BRAF V600E-mutant metastatic colorectal cancer patients who could benefit from Pfizer's Braftovi combo. The Breakwater study showed 51% reduced death risk and doubled survival (30.3 vs 15.1 months) compared to standard chemo. Simple blood draw, targeted therapy matching! 🎯

🇬🇧💼 LifeArc's new taskforce report calls for transforming the UK's rare disease R&D pathway to speed up diagnoses and treatments. The cross-sector group identified 3 key themes: diagnosis/data, market access, and innovator support to streamline the ecosystem.

Publications 📚

📚🎯 The WISDOM trial proves risk-based breast cancer screening works! In 28,000+ women, combining monogenic, polygenic, and clinical risk factors achieved the same protection as annual mammograms while smartly reallocating screening intensity. High-risk women got earlier MRI screening, low-risk women safely avoided unnecessary imaging. Polygenic risk scores reclassified many women who would've been missed by age/family history alone.

📚💰 New cost-of-illness study on Inherited Retinal Dystrophies in Belgium reveals staggering €37,228 annual cost per patient and €129.4 million total burden. 96% of patients report impact on daily activities, 81% on mental health. Indirect costs (productivity losses, informal care) dominate at 84% of total burden, highlighting the ripple effects beyond healthcare on families and society.

📚🔍 New JAMA research using NIH's All of Us cohort of 400,000+ people found ~5% of U.S. adults carry pathogenic variants in cancer susceptibility genes—many wouldn't meet traditional NCCN testing criteria. We're missing massive prevention opportunities because our systems rely on narrow family history criteria instead of population-level genetics. Time to evolve beyond "looking high-risk on paper" 📋

📚🇦🇺 Australia's nationwide population genomic screening pilot screened 10,263 young adults for HBOC, Lynch syndrome, and familial hypercholesterolaemia. Found PV and LPVs in 2.0% of participants and 74.5% wouldn't have qualified for current government-funded testing criteria.

📚🧠 New preprint analyzing 79,518 individuals reveals genotype-specific communication profiles across 15 neurodevelopmental conditions. The study showed that individuals with CNV-based NDDs often outperformed those with idiopathic ASD in communication, while those with monogenic NDDs like STXBP1 showed highest risk of developmental stagnation. Those with SETBP1, MED13L, and PPP2R5D variants showed relative strengths in nonverbal communication.

📚💔 Massive US study of 1.7 million cardiomyopathy patients reveals shocking underuse of genetic testing—only 1.05% got tested despite strong guideline recommendations. Children had highest testing rates at 13.8% vs elderly at 0.36%. Even more concerning: genetic counseling used in just 7% of those tested. Time to do better! 🎯

📚🧬 Large-scale study of 2,811 patients with rare movement disorders reveals exome sequencing achieves 19.3% diagnostic yield, while genome sequencing boosts this by 7.5% through better detection of structural variants and repeat expansions. The study also discovered CD99L2 as a new X-linked spastic ataxia gene through the Solve-RD consortium, showing how unsolved cases can still lead to breakthroughs.

📚🧬 MD Anderson study reveals POT1 tumor predisposition syndrome found in ~5% of chronic lymphocytic leukemia patients. POT1-TPD also increases risk for gliomas, melanomas, and angiosarcomas. This is important for family screening.

📚👶 New scoping review of 27 studies across 7 countries reveals parents are generally supportive of genomic sequencing in newborn screening—but still prefer traditional NBS over genomic approaches. Top concerns? Data privacy, insurance discrimination, and psychological impact of uncertain results. Meanwhile, pilot studies like BabyScreen+ (screening for 600+ conditions) and the Generation Study (targeting 100,000+ newborns) are pushing forward with implementation.

Professional Issues, Training and Tools 🌟 

📚🔍 New review of qualitative research in genetic counseling analyzed 34 articles from the Journal of Genetic Counseling in the last year and found major quality issues. The problem? Researchers are applying quantitative standards to qualitative studies! Time to rethink how we teach, review, and publish qualitative research in our field.

🎓💼 New York State Genetics Task Force launches DEI Grant offering up to $1,000 for underrepresented trainees and early career professionals in genetics. Funding covers conference fees, board exams, research costs, and publication fees. Applications due February 15th and August 15th with 30-day decision turnaround.🗽

💼 Job Opportunities (EMEA, UK)

New this month:

• Conseiller(e) en génétique - Endocrinologie, diabète et maladies métaboliques  - Marseille, France

• Medical Science Liaison, Rare Disease, UK and Ireland - Dublin, Ireland

• Conseiller en Génétique - Villejuif, France

• Genomic Associate (Practitioner) - Manchester, UK

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 April 21st 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: April 21st, 2026 . Interested in presenting? Fill out this form 📝

Sign up to The SNPPET Event Calendar 📅

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🗓️ Important dates, deadlines and reminders 

• 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

🎓 Unlocking answers with WES Trio by Blueprint Genomics - Feb 26th, 2026, 10:00 AM - 11:00 PM PT (Virtual webinar)

🎓 Gene Therapy for IEI: It's Taken Us So Long 'Cause We've Got So Far To Come’ by Jeffrey Model Foundation - March 25th 2026