Genomics and Personalised Medicine: some CPD

DNAI’ve spent an intensive week studying genomics and personalised medicine. First, I completed two genomics modules from the BMJ Learning platform and at the end of the week I attended an ITI Medical & Pharmaceutical Network workshop on personalised medicine. In between, I read The Double Helix by James D. Watson. Here’s an account of the three activities.

BMJ Learning

Taking advantage of the BMJ Learning offer, I completed two modules on genomics at the beginning of the week. The first was an “Introduction to Genomics” and consisted of:

  • Key points in genomic medicine and recent discoveries
  • Genomic techniques, including genome-wide association studies, microarray comparative genomic hybridisation, whole exome sequencing and whole genome sequencing
  • Clinical applications in disease diagnosis and prediction
  • Direct to consumer genomic testing
  • Pharmacogenomics: targeted therapies, companion diagnostics and new drug development 

The second module was entitled “Genomic medicine in the management of cancer and infectious diseases”. It focused on:

  • The cancer genome
  • More genomic techniques: next-generation sequencing, cell free DNA and gene expression studies
  • Personalised treatment in chronic myeloid leukaemia, HER2-positive breast tumours, BRAF mutation in malignant melanoma, non small cell lung cancer and EGFR activation.
  • The microbial genome
  • Diagnosis of infectious diseases and subclassification
  • Susceptibility testing of drugs in HIV
  • Tracking outbreaks of infectious diseases

The first part was great for brushing up on the biology of genetics and genomics and for learning more about the latest tests and techniques. The second part was particularly relevant to translating clinical trial protocols because a growing number of trials are focused on targeted drug therapy in patients with a specific gene mutation.

The modules were in text format, accompanied by brief videos given by subject experts, some case studies to develop the content and a multiple choice test at the end that required reasoning skills as well as factual knowledge.

The Double Helix

At the beginning of last week I happened to come across Fernando Navarro’s Spanish review of The Double Helix, a book that fitted in perfectly with the subject of genomics and personalised medicine. So, sandwiched between the BMJ Learning modules and the ITI workshop, I devoured The Double Helix, a first-person account by James Watson of how he co-discovered the structure of DNA together with Francis Crick. It was an exciting read; you could feel the science jumping out of the book and coming to life.

ITI MedNet workshop: personalised medicine

This one-day workshop was held at the Royal College of Surgeons in London. It was organised by the ITI Medical & Pharmaceutical Network. The speaker was Professor Munir Pirmohamed from the University of Liverpool (and by chance he was also one of the presenters in the BMJ Learning videos).

Before lunch, Prof. Pirmohamed talked about the science of personalised medicine and how it can be used to diagnose and treat patients. After a break for lunch he went on to discuss personalised medicine and society, looking at the ethical, legal and social issues that go hand in hand with this subject. I found both talks extremely informative and entertaining. Attendees asked some quality questions, which Prof. Pirmohamed answered in great detail, summing up his thoughts in a direct way at the end of each answer. He was unfazed by a point-blank question: had he had his own genome sequenced?

We then split up into language-specific groups and discussed a text that we’d been sent a couple of weeks earlier. The Spanish-English group looked at a journal article on pharmacogenomics. It was an enriching experience to analyse tough terminology with eight other medical translators and we were lucky that Prof. Pirmohamed stayed on after his talk to help clarify any doubts we had. We stormed him with terminology questions, and although he didn’t understand the source text and was only given limited context in English, he was still able to explain which term he would use and why.

The next day, a good-sized group of ITI MedNet members went on a guided tour of the Hunterian Museum, which is housed at the Royal College of Surgeons. I’ll write an account of this fascinating visit in a later blog post.

So that was the end of my CPD week of genomics and personalised medicine. Next week I’ll share the Spanish to English glossary that I compiled along the way.

Image attribution: © Dmitry Sunagatov –
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9 Responses to Genomics and Personalised Medicine: some CPD

  1. indextran says:

    I look forward to seeing the glossary.

  2. Sounds fascinating, Emma! I’m studying genetics and genomics, too, with Coursera and Udacity – it’s such an interesting field.

    • I’m sure you would’ve enjoyed the ITI MedNet workshop, Jayne. It was definitely worth travelling from Spain to attend it, but New Zealand is another story…

  3. Mónica Pérez Ruiz says:

    Coincidentally, I just got this today: “Genomic Medicine Gets Personal” Looks like it’s a hot topic.

  4. Pingback: A Spanish-English glossary of genetics | Signs & Symptoms of Translation

  5. Pingback: The Hunterian Museum | Signs & Symptoms of Translation

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