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  • 🧬 The SNPPET - March '24 Roundup

🧬 The SNPPET - March '24 Roundup

A newsletter for the genetic counsellor community. Keeping you in the loop on the latest news in genetics, upcoming events & job openings

April 08, 2024

👋 Hi Genetic Counsel(l)ors & friends 


Can you believe that Q1 of 2024 is gone already?

As ESHG comes closer, I would love to know how many of you will be attending ESHG 2024 in Berlin and would be interested in a live GC meetup. Please complete this short survey so I can gauge interest.

Here is a roundup of interesting things from March 2024

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Highlights 🌟 

📃 The new NICE guidelines for Familial Ovarian Cancer have been released. It provides guidance to assess the familial and genetic risk of having a pathogenic variant associated with ovarian cancer in adults.

🎙️ New Podcast Alert🚨: DNA Dialogues 🧬 is the official podcast of the Journal of Genetic Counseling and takes you on a journey into the intricate world of genetic counseling research.

📢 The European Health Data Space (EHDS) was endorsed by the Council of the EU and the European Parliament last month. This will make it possible to access and share personal health data across the European Union safely and respecting privacy.

📢 The European Commission has announced €18 million to help integrate the European Reference Networks into national healthcare systems in the Union. The joint action (called JARDIN) will have a positive impact on the diagnosis, management and therapy of rare diseases!!

🫀Looking for a refresher on Cardiogenomics? Sign up for this free course on “Implementing Cardiogenomics in Clinical Practice” created by the Jackson Laboratory. The course is set up in a practical manner with several case studies to drive home the main points.
Bonus: Watch this Heart Rhythm dance 🕺❤️

💊 The FDA has approved Orchard Therapeutics’ Lenmeldy (atidarsagene autotemcel), the first FDA-approved gene therapy for children with metachromatic leukodystrophy. It is a one-time, single-dose infusion made from the patient’s own genetically modified stem cells with functional ARSA genes.

🧪 23andme has launched its Polygenic Risk Score (PRS) reports for breast, prostate and colorectal cancer.

🧬 The latest updates to the sequence variant and CNV classification: v4.0 was previewed at the ACMG 2024 meeting in Toronto in March 2024.

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:

📚️ 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!

📕 Book recommendation for April 2024:

 Medical Apartheid
Fair warning - This is going to be a hard book to read.

Book Review from Mar 2024:

📚 This book made me so nostalgic for the early days of exome and genome sequencing where there were no guidelines or standards for analysis or interpretation and we learned and reiterated as we sequenced and analyzed more patients. A lot of the events in this book were familiar and personal. They brought back a lot of memories and reminded me of what I love about being in genetics. What did you think?

 🤖🧠 AI tool/prompt of the month 📆 

ChatGPT? Mistral? Gemini? Bard? Llama? GPTAgents? HuggingFace?
Have you been keeping up with the AI revolution???? Because…….
“AI is not going to replace you but someone using AI just might” 😰

This month we feature three AI tools that help you create presentations and decks easily with some prompting

Please note: DO NOT USE PATIENT INFORMATION OR CONFIDENTIAL INFORMATION IN ANY PUBLIC AI TOOL!

💡 Are you using AI tools to make your life easier in your day-to-day tasks? Share your tools here so we can bring them to the community

💻️  Upcoming educational webinars in April 2024

There are some great webinars this month organized by GenomeWeb. . So feel free to take a look here. A few are highlighted below:

Date & Time: April 17th 18:00 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 ! 💙
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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