🧬 The SNPPET #6: accelerated drug approvals; Casgevy & egg freezing; the Generation Study; GC Skills Checklist and more

👋 Hi Genetic Counsel(l)ors & friends 

🌟 Hope you are reading this on a lounge chair somewhere on the beach on your holiday! 😃 My summer has been quite sporty so far - screaming with Spanish fans at the EuroCup ⚽️🇪🇸 and washing down tons of strawberries 🍓 and cream with Pimm’s at Wimbledon 🎾🍹. After which I decided to take up golf ⛳️! Now can someone explain all the scoring rules on the card please?

This month, I wanted to spotlight Mark A. Hicks and his work. Mark is an internationally published illustrator, and a hereditary cancer awareness and prevention advocate after losing his wife to cancer. He has created Genetionary that contains information and infographics about Genes, Germline Mutations, and Hereditary Cancer Prevention.

🌐 Last call to register and join us for the online 🙋‍♀️🙋Genetic Counsellor Networking Event happening on July 23rd 2024 at 17:00 - 18:00 Central European Time. So come join us for an hour of socializing 🥂🥂

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This issue:

• News Highlights

• Jobs

• Conferences and Dates

• Book club

• Webinars

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News Highlights 🌟 

Therapy-related -

💊🧬FDA grants Sarepta’s Elevidys label traditional approval for ambulatory Duchenne patients 4 years old and above; and accelerated approval for non-ambulatory patients!!! However, there has been criticism that the FDA approved the drug despite the lack of clear evidence and clinical benefit and serious drawbacks. You can read more about this here and here.

💊🧬ReCode Therapeutics’ RCT1100, has received U.S. FDA Orphan Drug Designation for the treatment of primary ciliary dyskinesia (PCD) caused by pathogenic mutations in the DNAI1 gene. An open-label study to assess safety and tolerability of a single ascending dose of inhaled RCT1100 is currently enrolling patients in Part B of a Phase 1 trial.

💊🧬With tons of gene therapies in the pipeline and each of them priced in millions of $$, this short article discusses the need for financial innovation and new models to allow individuals to access these therapies.

💊🧬 Vertex Pharmaceuticals sued the US government over its refusal to cover fertility treatments and egg freezing services for patients who receive Casgevy on Medicaid. The priming drugs used before this sickle cell therapy may cause infertility. Courtney Rice in her post explains why coverage of these treatments is important for patients with sickle cell disease.

Industry -

🧪 Illumina has acquired Fluent Biosciences, thus moving into the single cell analysis space. They hope to expand into the multiomics market and be a one stop shop with their sequencing and single cell analysis technology.

🧪Element Biosciences has successfully raised over $277 million in its latest funding round and is hoping to mount a challenge to Illumina’s dominance in the NGS space with its own sequencing and multiomics platform.

Projects -

👶🧬 Genomics England, in partnership with the UK’s NHS, has begun enrolling newborns for the Generation Study, aiming to screen 100,000 infants using WGS. The study will target 223 conditions amenable to early intervention.

🧬 Germany is launching a €700million Precision Medicine “Model” Project with a focus on rare and oncological diseases. However, only certain selected university hospitals and laboratories can participate. The aim is to enhance genomic diagnostics in Germany.

Legal and Regulatory -

🧬🕵️ The EU AI Act, published in July 2024 and effective February 2025, is the first comprehensive AI regulatory framework. It aims to ensure ethical AI use and protect consumers but will significantly impact Europe's AI landscape. The Act will particularly affect biotech and healthtech industries, especially young, innovative companies_. The increased cost of bringing new technologies and products to market may push innovation out of Europe into other regions.

Professional Issues and Training (GC) -

💼 After years of lobbying for recognition of GCs as healthcare providers, the NSGC has turned to its membership to help revitalize their strategy. They have opened a call for proposals to help with getting the Access to Genetic Counselor Services Act through the 117th Congress.

🧑‍🎓To address under representation of Pacific health professionals in genetic counselling, a Master of Genetic Counselling scholarship for one Pacific student has been announced. The student can enroll remotely with two visits a year to University of Technology Sydney. Applications are open.

Publications and Guidelines -

📜 A review providing an overview of genetic counselling legislation and practice across European Union (EU) Member States was recently published and the authors hope that it will serve as a foundation for future European recommendations and action.

📜 A Genetic Counseling Skills Checklist that would allow comprehensive documentation of GC communication skills was developed using previous validated measures and frameworks and evaluated preliminarily. It however, needs further testing and validation before use. View the list here and take this course at the U of Minnesota to learn more about it.

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

💼 Job opportunities in UK and EU

Quiet on the jobs front for genetic counsellors. Also did not receive any submissions from readers.

• Medical Science Liaison (Rare Diseases) - London, UK

Looking to fill a position on your team? Or have internship opportunities at your work? Share your posting here

🗓️ Important dates, deadlines and reminders 

Upcoming Conferences and meeting:

• GC Networking event (online): Jul 23 2024 5pm CET

• ESMO, Barcelona: Sept 13-17 2024

  • Late breaking abstracts: open until Aug 7th 2024

• NSGC AEC 2024, New Orleans: Sept 17th - Sept 21st 2024

• World Orphan Drug Congress 2024, Barcelona: Oct 22-25 2024

• World Congress of Genetic Counselling, Hinxton, Feb 24-26th 2024

  • More details TBD

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

This month I wanted to share a LinkedIn post from Jessica Shiles, with some book recommendations, particularly for incoming or prospective GC students but great reads for everyone

💻️  Upcoming educational podcasts and webinars

On-demand:

Webinar: Genetic Ataxias: Clinical Overview, Research, and the Future of Diagnosis and Treatment

Podcast: Bringing genomics to the clinic

Upcoming:

🧬 British Society for Genomic Medicine: Lunch and Learn Series:
Breaking barriers for better health: Reducing Ethnic Health Inequalities in Genomic, Genetics and Precision Medicine 

Date & Time: Jul 24th 12:30 - 13:30 UK time