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  • 🧬 The SNPPET #5: GC commission, Scavenger hunt, The GeniE, Iceland scores, GCs make money and more....

🧬 The SNPPET #5: GC commission, Scavenger hunt, The GeniE, Iceland scores, GCs make money and more....

5 minutes overview of the latest news in genetics, job openings, upcoming events, webinars, AI tools, and more. Join 500+ genetic professionals and stay in the loop 💙

👋 Hi Genetic Counsel(l)ors & friends 

☀️ ☀️ Conference season is in full swing! ESHG was already 2 weeks ago and it was exciting to see everyone!!!! Time flies ☀️☀️

Let us start with this blast from the past from 1976🚀⏳ (via Matt Tschirgi)
A publication making the case for a new profession “The genetic associate: a new health professional”.
Look at how far we have come 😃 ———— Or have we????🤔🤔 

🇩🇪 The German Society of Human Genetics (GfH) will set up a commission on genetic counselling for the German-speaking countries after a successful vote at the ESHG in Berlin in favor. They will assess the “if, why, what, where, when and how of such a profession”, provide policy advice.



🌐 Register for the online 🙋‍♀️🙋Genetic Counsellor Networking Event. It will be on July 23rd 2024, 17:00 - 18:00 Central European Time.
Get ready for 2 minute talks and a Scavenger Hunt or an Escape Room Game to get to know your peers better. So come join us for an hour of socializing 🥂🥂

🔎Research Participation Request: Dr. Sophie Stößlein, a clinical geneticist in Germany is conducting a survey on understanding the professional challenges encountered by genetic counsellors in their daily practice. Please participate and share with your GC colleagues.

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This issue:

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News Highlights 🌟 

Therapy-related -

💊🧬Good news! Ionis Pharmaceuticals announced positive topline data from the HALOS Phase 1/2a study of compound ION582 in Angelman syndrome

💊🧬On the flip side, Ionis Pharmaceuticals, Inc. and Biogen Inc. will terminate development of BIIB105 (ION541) an investigational antisense oligonucleotide (ASO) for amyotrophic lateral sclerosis (ALS) based on topline results from the Phase 1/2 ALSpire study

Industry -

🧪 Tempus AI has filed to go public. Tempus has one of the world's largest libraries of clinical and molecular data, along with an operating system to make this data accessible and useful for patient care. Thomas Hagemeijer discusses the landscape of players in the Molecular Oncology and Precision Medicine space

Projects and Tools -

👶🧬 Dubai Health has launched a rapid newborn genome screening project called Little Falcon allowing quick diagnosis of critically-ill newborns.

 

🧬 The Broad Institute released GeniE, the Genetic Prevalence Estimator. GnomAD allele frequencies and ClinVar classifications are used to estimate the genetic prevalence of autosomal recessive diseases. It was developed in partnership with the Chan Zuckerberg Initiative Rare as One Network

Legal and Regulatory -

Professional Issues and Training (GC) -

🧬Genetic counselling is now a legally recognized and protected profession in Iceland. One is eligible if one has a Masters in genetic counselling from an accredited program of the American or European Board or another region with recognition. The assessment requirements are fairly strict and as rigorous as other clinical professions.

🧑‍🎓The EBMG-approved Masters in Genetic Counselling program in Linköping, Sweden is being reworked into a Nordic Masters program which will be taught in English and mostly as a distance-learning program with a planned start date of Fall 2025. So stay tuned for updates and let prospective GC students know.

📉 Katie Stoll over at The DNA Exchange discusses the current not-so-hot job market for GCs in the US and the factors that contributed to this decline over the last decade. Perhaps some takeaways for us in the EU as we train more and more new GCs each year and efforts are underway for professional recognition at regional, national and EU level.

💵 Since its always about the cold, hard cash in most healthcare systems, here is a health economics study showing the downstream revenue generated after a genetic diagnosis in patients with hereditary cancer by a genetic counsellor that might make a case for us?

Publications and Guidelines -

💼 This study looked at the GC workforce changes needed in Australasia regarding diversity, inclusion and capacity. Their survey may be of use internationally, to understand similar issues in other regions.

🧬What to tell women about their breast cancer risk after ovarian cancer diagnosis in BRCA1 and BRCA2 pathogenic variant carriers? The risk of breast cancer is reduced by >50% for 5 years or more. More reassurance to carriers about their short term risks.

🧪Check out the British Society of Genomics Medicine’s (BGSM) guidance on managing incidental findings.

📃 A behind-the-scenes look at what happens when you submit that manuscript - The Journal of Genetic Counseling way.

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

💼 Job opportunities in UK and EU

Looking to fill a position on your team? Share your job posting here

🗓️ Important dates, deadlines and reminders 

Upcoming Conferences and meeting:

📚️ Book Club: Let’s read together each month 📆 

I review a book each month and suggest one for the next one. Be my reading buddy!

💻️  Upcoming educational podcasts and webinars

On-demand:

🤖AI and Health🧑‍⚕️ (podcast from the Economist)

Upcoming:

🧬 British Society for Genomic Medicine: Lunch and Learn
De novo variants in the RNU4-2 snRNA are a frequent cause of neurodevelopmental syndromes

Date & Time: Jun 26th 12:00 - 13:00 UK time 

Date & Time: Jun 26th 18:00 - 19:00 CET 

Know of an interesting webinar, conference or upcoming event? Let us know 

Did I miss something important from your region? Perhaps a new set of guidelines or a landmark publication? Let me know here

That is all for this edition ! It was a loong one! 💙
If you enjoyed reading the SNPPET, forward this email to your friends & colleagues or invite them to subscribe 😎

See you in a month,

Alekhya 💙

For those of you who don’t know me—

👋 Hi, I'm Alekhya! 🧬 I'm an ABGC certified and EBMG registered genetic counselor. My favorite word is "Why?" 🤔 and I love meeting new people, hearing their stories, connecting people, learning new things, getting others excited about said things 🤩, and sharing my knowledge 💡. I created this newsletter to share interesting things with you, to stay connected to fellow GCs and genetic professionals and to build a community together. 🌐

A bit more about me - I started in India 🇮🇳 and after a stint in the UK 🇬🇧 and USA 🇺🇸 ended up in Berlin 🇩🇪. I worked for several major diagnostics labs in varied roles supporting their physicians and patients around the world which helped me expand my world from just genomics to digital health 📲, AI 🤖, product development, marketing & sales strategies, healthcare systems, etc. In 2023, I founded GeneLinx, 🧬 to help scale and mainstream genetic counseling. I am a board member of the EBMG genetic counselor branch and also host the EU GC networking event and the Global GC networking event.

Always open to exchanging ideas 💡 and happy to meet GCs from around the world. Feel free to write to me anytime at [email protected] or by replying to this email. 📧



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