🧬 The SNPPET #7: NSGC buddy finder; Genome as genAI; BioMarin pulls back; GRAIL & Galleri fails; and more

👋 Hi Genetic Counsel(l)ors & friends 

🌟 Hello hello hello! 😃 

Wanted to start this one with 3 things:

• Are you attending the NSGC AEC in New Orleans? 🌟

  • Looking for accommodation or new connections? 

    Find Your Conference Buddy Here
    With the job market tougher than ever, budget cuts, and layoffs, saving and connecting is more crucial than ever. If your classmates, friends, or colleagues aren’t attending, you don’t have to go it alone.
    I’ve created a tool to help you find other attendees to share an Airbnb or hotel room with, or to discover NOLA together. 🎉

    Let’s make the most of NSGC together! 

    [Please note - NOT officially endorsed by NSGC]

  • If you want to meet with me at the conference please email me at [email protected].
    
    

• A call to participate in a research study.

  Conducted by Priyanka Ahimaz-Shepel and other genetic counsellors at Columbia University.
  Eligibility criteria: Genetic counsellors who have current or previous work experience in a country other than USA and Canada. So go help some fellow GCs out with their research.
  Aim: to capture the practices of international genetic counsellors about how they ask patients for information about their race, ethnicity, and/or ancestry during a session.
  

• I would like to highlight Lily Barnett and her lovely illustrations and stickers. Lily is a genetic counsellor practicing in London and has also recently completed illustrations for the Lynch Choices website by Cancer Research UK. Support a fellow GC and order some of her cool stickers 😀 

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This issue:

• News Highlights

• Jobs

• Conferences and Dates

• Book club

• Webinars

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News Highlights 🌟 

Bored of using the “Genome is like a blueprint or recipe” metaphor?
How about the “Genome is like a generative AI model” metaphor? Two researchers want us to consider the genome in a new light. Their publication is on Arxiv for the hardcore biologists.

Therapy-related -

💊Wanted to share this Instagram reel by NHS England showing how life-changing a new treatment called foslevodopa-foscarbidopa is for a patient with Parkinson’s disease.

💊🧬BioMarin's Roctavian, for Hemophilia, will now only be commercially available in the US, Italy, and Germany. 🇺🇸🇮🇹🇩🇪 and will not be launching globally 🌍. For the moment it is unclear how patients in France, Spain, and the UK 🇫🇷🇪🇸🇬🇧 can access this treatment 🤔

💊🧬 Casgevy (exa-cel) has been approved in the UK to treat beta-thalassemia for NHS patients, despite its hefty price tag of over £1.6M 💷. This came after Vertex Pharmaceuticals offered a “discount” on the cost.

Industry -

🧪To add to the recent spate of layoffs in the Biotech/Genetic testing industry, GRAIL has let go off 30% of its workforce to reduce their cash burn.

 🔬💉 A new AI tool can now predict male infertility with just a blood test! Had an accuracy of 100% for non-obstructive azoospermia. This breakthrough could change the game in fertility diagnostics.

Cancer News -

🦀🧬 - A study showed that cancer screening for 5 types of cancer costs 43B$ a year in the US - with most of the cost burden due to the high cost of colonoscopies. Some physicians question the benefits of such screening since studies have failed to show that people live longer as a result while others say that it saves lives and is necessary.

🦀🧬 More cancer news - The British Medical Journal released a damning investigative report on NHS and GRAIL’s Galleri multi-cancer early-detection test and the ethics of the NHS-Galleri trial (or rather deal should I say). The trial involves testing over 100,000 participants in England and would lead to a large commercial deal if successful but preliminary data suggest limited benefit. The trial continues per the NHS website

🧬🦀 Meanwhile - A new project called POSEIDON (funded through the Biden Cancer Moonshot Program), aims to identify cancers at a stage when the tumors are more responsive and less costly to treat, thus saving lives and money. It is the latest Advanced Research Projects Agency for Health (ARPA-H) program. Looks like the US Government is now getting into at-home multi-cancer early-detection tests! 😁 

Professional Issues and Training (GC) -

💼 Here is a short primer on medical coding and billing I found very helpful to help you navigate the world of insurance billing in the US and also other parts of the world who have adopted the same system.

🧑‍🎓Turna Ray just wrote a great article about insurance billing and reimbursement for genetic counselling services in the US. GCs in the EU and other countries fighting the same fight should take note

Publications and Guidelines -

📜 A study of 3000 women with ovarian cancer has just identified that BRIP1 likely confers a higher risk of ovarian cancer than previously thought and variants in this gene were identified in over 1% of women, second only to those in the BRCA1 and BRCA2 genes. BRIP1 is likely strongly associated with familial ovarian cancer syndrome.

📜 This paper on the burden of genetic diseases in India is a collaborative effort of genetic clinics across the country and provides insights into the distribution and the types of diseases in the population.

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.

• Field Application Specialist, Reproductive Health - London, UK

• Diagnostics Manager (Oncology) - London, UK

• Locum Consultant Genetic Counsellor (Cancer) - Oxford, UK

• Clinical Genomics Scientist - Rostock, Germany

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:

• ESMO, Barcelona: Sept 13-17 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 📆 

Keeping with the cancer theme of this edition - “Emperor of All Maladies: A Biography of Cancer”.
If you haven’t read it yet, I highly recommend it. It is an old one but what a book. it traces the story of cancer through the ages. Will we ever be able to outrun it?

💻️  Educational courses, podcasts, webinars

Free Course:Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations

Free Course: Innovative Therapies and Personalised Medicine for Rare Diseases