December 12, 2017

Medical scientists and genetic counsellors recently benefited from the Alliance’s latest immersive ‘hands-on’ professional workshop, focused on variant curation specifically for cancer.

The one-day workshop proved highly popular, with places being fully subscribed within 24 hours of the Alliance releasing a call for expressions of interest to attend.

‘There is huge demand for curation,’ said Melbourne Genomics’ Clinical Bioinformatics and Genomics Project Manager, Dr Natalie Thorne. ‘Professionals recognise the need, and see that there is quite a difference between germline and somatic curation.’

‘Through our 10 member organisations, the Alliance can draw on enormous expertise in building these training opportunities.’

The variant curation workshop focused on improving skills and knowledge in interpreting exactly which variants in the genome may be involved in a patient’s cancer condition. It is painstaking work done largely by highly-trained human minds, not computers.

There are many similarities in the process of curating both inherited and acquired variants. However, in the context of cancer, diagnostic as well as prognostic and therapeutic factors are important.  The participants gained an understanding of the different emphases involved in the curation of blood and solid cancer variants.

Melbourne Genomics is funding the role of somatic variation curation training coordinator, Dr Ain Roesley, who is based at Peter MacCallum Cancer Centre.

Dr Roesley explained: ‘The workshop included a series of short lectures, practical hands-on curating experiences, and concluded with clinical reporting tips. Participants learned about curating cancer variants for their importance in diagnosis, prognosis and therapy.’

The highly practical workshop gave participants the opportunity to work on anonymised cases from real patients that have already been through the genomic sequencing test.

‘In one scenario, we found a genomic variant in a patient which was very unusual in this type of tumour. This patient was then able to access a drug treatment which wasn’t part of his initial treatment plan, but has ultimately had a positive impact in fighting his cancer. This case shows the power of genomics to yield information that can enhance treatment,’ Dr Roesley said.

Workshop attendees indicated that further hands-on training opportunities focusing on cancer variant curation would be welcomed.

To date, the Alliance has directly involved more than 400 professionals across the Victorian healthcare system, and has provided continuing professional development to more than 800 healthcare workers.

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