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  • 🧬 The SNPPET #8: Trading vouchers in Pharma; 23&me & everyone's data; selecting smart embryos; mandatory carrier screening; and more

🧬 The SNPPET #8: Trading vouchers in Pharma; 23&me & everyone's data; selecting smart embryos; mandatory carrier screening; 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 💙

Author

Alekhya Narravula
November 04, 2024

 👋 Hi Genetic Counsel(l)ors & friends 

🌟 We are back again after a hiatus! It was an eventful September and October with NSGC in the US and then learning more about the genetic counseling program and community in Saudi Arabia. Hope you are enjoying the season of 🍁🍂🎃 

As always share your job posts, interesting publications, news, research project, events and conferences below and invite your friends and colleagues using the link thesnppet.beehiiv.com/subscribe.

What is your relationship with AI?🤖

Unless you have been living under a rock you have probably heard of ChatGPT and Large Language Models. Are you wondering how to effectively use these tools in your genetic counseling practice? Or perhaps you're already experimenting with AI to streamline your work?

Please take 5 minutes to share your knowledge, experience, and needs around AI tools in your practice. Your input will help shape and design resources on AI for the community.

💼 Participate in GC Research

Support a peer or GC student with their research projects

  • The Health Ethics and Policy Lab, ETH Zurich in collaboration with the Center for Law & Economics, ETH Zurich is conducting a study about the accuracy, relevance and accessibility of educational summaries on genetic tests as they relate to the informed consent process.

    Scan to participate

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News Highlights 🌟 

Therapy-related -

💊🎟️ Have you heard of the Priority Review Voucher (PRV) program of the FDA? PRVs are a little reward to incentivize Pharma companies to develop drugs for rare diseases. The voucher allows review of a drug under the FDA’s priority review system and can also be sold 💵💰to another Pharma 😲 
As an example, Ipsen recently agreed to sell it’s voucher for $158M.

💊🧬Modalis Therapeutics has been granted a Japanese 🇯🇵 patent for MDL-202, their CRISPR based gene therapy drug designed to treat Myotonic Dystrophy Type 1 (DM1). The treatment targets the DMPK gene, to effectively silence its abnormal expression in muscle tissue using a muscle-specific promoter within an adeno-associated virus vector.

💊🧬 Pfizer is pulling Oxbryta (voxelotor), a treatment for sickle cell disease (SCD), from all markets, globally 🌏. All active trials and expanded access have also been discontinued as the benefit "no longer outweighs the risk” in sickle cell due to rise in deaths & complications.

🧬 The two CRISPR Nobelists are requesting a cancellation of two of their seminal patents in Europe after a court ruling stating that the explanation of CRISPR technology was not detailed enough.

💊🧬 These two articles - Part 1 and Part 2 discuss the new economics of cell and gene therapy (CGT) and how the old model of development and go-to-market for biologics fails when it comes to CGT. An interesting read for those interested in the $$$$ side of drug development.

Industry -

🧪Heliospect Genomics is offering to help wealthy couples screen their embryos for IQ, using controversial, experimental technology and marketing its services for $50,000 for 100 embryos. (Their website is so scammy and shady, I wonder who would trust these guys iwth )


 👶💉 A class action lawsuit against multiple labs over accuracy claims for preimplantation genetic testing - aneuploidy (PGT-A) has been filed in the USA. Labs named include CooperGenomics, Inc., CooperSurgical, Inc., The Cooper Companies, Inc., Reproductive Genetic Innovations, LLC., Progenesis, Inc., and Natera, Inc.


🧬Illumina launches a new benchtop sequencer for smaller NGS labs - the MiSeq i100 Series. In other Illumina news, the European Court of Justice agreed that the European Commission did not have the right to investigate the Illumina-GRAIL merger and gave Illumina a win. The decision came a tad too late as GRAIL had already been spun out. However, looks like Illumina at least gets to keep the $500M they would have had to pay in fines.


🧬23andMe has been in the news lately as 7 out of 8 board members resigned in mid September, amongst rumors that the founder wants to take the company private. A lot has been written since then about data privacy and the dangers of DTC testing. Most people are now trying to panic delete their data and finding out that there are legal requirements in place for 10 years. They cannot delete data for 10 years as a requirement of CLIA but they are not required to be HIPAA-compliant as they are not a healthcare provider.


🧬A group called the Human Diversity Foundation, carrying out pseudoscientific racist research to prove differences between races using genetics, accessed the UK Biobank data for their studies. The Heliospect Genomics startup offering screening of embryos for IQ also likely used this data to create their models.


🧬In some good news for diagnostic testing laboratories, GeneDx achieved profitability last quarter driven by its exome and genome testing.


Projects -

🧬 - The PREDICT carrier screening program in Singapore will screen 40,000 carrier couples at no cost over 3 years using a panel of genes developed for the Asian population.

🧬 Pre-marital carrier screening is mandatory for all Emirati couples in Abu Dhabi from October 1 2024 after a successful pilot. Couples will be screened for 570 genes contributing to more than 840 genetic disorders.


🧬 The All of Us Research Program data is now also available to commercial organizations for research. If interested , you can register your organization here

Professional Issues and Training (GC) -

💼 A commentary on the implications of English-centric training on multilingual practice. An important topic as GCs relocate for training and work in larger numbers than before.

Publications and Guidelines -

📜💊A recent Pharmacogenomics (PGx) study showed that PGx allele frequencies and function differ substantially across nine biogeographic groups, all but two of which are underrepresented in current PGx data.

📜🤖The Medical Genomics Unit at the NGHRI, evaluated several large language models (LLMs) on their ability to identify 63 different genetic conditions.


📜 🧬 Pathogenic variants in the PLCZ1, ACTL7A and ACTL9 genes have been linked to instances of complete fertilization failure or significantly reduced fertilization rates following ICSI.

📜 👶 A proposed fetal genome sequencing actionable finding list could improve fetal diagnosis and perinatal outcomes. Currently in pre-print and review, the authors compiled a list of 295 genes associated with disorders for which therapeutic interventions in the fetal or first week of life improve health outcomes


📜👶 The initial findings of the GUARDIAN study based on the first 4000 newborns enrolled have been published. 3.7% screen positive rate on a predefined panel of 156 genes with an additional 99 being optional.

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.

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

🗓️ Important dates, deadlines and reminders 

Upcoming Conferences and meetings:

💻️  Educational courses, podcasts, webinars

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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