Event Review: Genomics Lite – Exploring cancer genetics in focus

Genomics Lite is a programme of live webinars in which scientists and other staff at the Wellcome Sanger Institute, Cambridge, discuss their ongoing genetics research and projects. The open forum design allows for the public to ask questions and for the exchange of ideas between scientists and non-scientists alike. This is just one of the many lay-friendly programmes brought to the public by the Institute's public engagement team, Wellcome Connecting Science.

March's Genomics Lite webinar, 'Exploring cancer genetics in focus', saw relationship officer, Zoe Sheard, and scientific communications officer, Leonie Hodges, discuss their work on the Catalogue of Somatic Mutations in Cancer, indelibly branded as COSMIC.

Sheard and Hodges, both new to their roles, began by explaining what their jobs entailed and what qualifications they had required for the position. Genomics Lite webinars are aimed at children from year ten (age 14-15) to undergraduate students; this part of the discussion very much felt geared towards school or university students with an interest in science but unsure of the career options aside from medicine or laboratory research. As a PhD student myself, still unsure of the career options outside of academia, I found it interesting to learn about their roles.

The conversation then shifted towards COSMIC, the world's largest cancer genomics database. Remaining accessible to students and non-scientists, Sheard and Hodges explained various scientific terms, such as somatic mutation: a DNA mutation that occurs after conception and in any cell type other than gametes, or sex cells.

While audience members could not unmute themselves to join the discussion during the webinar, we were kept engaged with poll questions throughout, such as when was the first case of cancer recorded? 3000BC in ancient Egypt, for anyone wondering!

Sheard and Hodges revealed that from 3000BC to the 1900s, there was little progress in the field of cancer research. However, over the last 100 or so years there has been an exponential increase in data generation, with genomics data accumulating on an enormous scale especially.

COSMIC was borne out of a need to standardise this extensive genomics data and make it readily available to cancer researchers and clinicians. The non-profit organisation was created in 2004 and today it still operates under the same principles. Commercial customers, such as pharmaceutical companies, pay for a license to access this data and the COSMIC team use this revenue to grow and allow non-commercial customers data access for free.

The COSMIC database has always been carefully curated by scientists. The curators manually perform extensive reviews of the literature to identify new cancer-related genes and somatic mutations, before synthesising and standardising this information into a usable online resource. I was impressed to hear that even now, in the age of artificial intelligence and machine learning, humans are still needed to curate this data.

With such a large accruement of knowledge, COSMIC provides data specific to cancer type and location. Therefore, cancer specialists can easily identify information relevant to their research. There is also data on drug resistance and protein structures, aiding the generation of new cancer drugs and treatments.

Sheard and Hodges explained that there are YouTube tutorials detailing how to navigate the COSMIC website and get the most out of the resource. Additionally, they revealed that there is a podcast channel, Conversations with COSMIC, where scientists discuss their scientific discoveries and how COSMIC aided their research.

The webinar ended by answering questions that the audience typed into the chat function. People were interested to know whether germline mutations were also inclued on COSMIC as well as somatic ones (yes), and whether they plan to include a database of protein changes due to DNA mutations (they already do – COSMIC-3D allows the visualisation of cancer mutations in 3D protein structures!).

I found the webinar most suited to students with an interest in cancer research or genetics, or current cancer genomics researchers yet to hear of COSMIC. I believe it would make a useful resource for GCSE, A-level, or undergraduate students to gain some insight into the varied roles that support academic research.

For postgraduate students or academic researchers, like me, I found the webinar quite light on scientific content and really intended for more of a lay audience.