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Kate Birch is a member of the Precision Medicine Community of Practice Steering Committee

There was a full day precision medicine pre-conference symposia. It was attended by about 160 people, including Richard Gibbs.

What was clear to me from this day is that the concept of precision medicine beyond genomics is still emerging. There was very little non-genomics focus, limited to a few passing slides on antigen vaccines and dendritic vaccines. There was no non-US perspective included across the day, so much of the discussion revolved around US funding models for genomics. Sounds like payment models will be tied to outcomes, so will need to be able to track patients through disease registries. Also almost entirely somatic focussed, and one speaker mentioned upon questioning that they’re staying away from germline because they don’t know how to deal with incidental findings. Panels are now routine although unfunded, but no one was doing exomes or genomes in a big way.

As for genomics, the terms genetics and genomics appear to be used interchangeably by many of the speakers.

Damon Hostin, the CEO of the Precision Medicine Alliance which is an alliance between CHI and Dignity Impact (together serving 95 million Americans) opened the session. They do cancer genomics in the most part, panels, with some pharmacogenomics and wellness genomics. He spoke about the need for genomics to horizontally, not vertically integrated, that is, genomics cannot be a specialised clinical discipline in and of itself, it needs to integrate in to all other clinical areas.

Thomas Brown from the Swedish Cancer Institute (who opened with a joke about some silly person that assumed that the Swedish Cancer Institute was in Sweden, as I had done. Turns out its in Seattle, thereby dashing my hopes of any non-US perspective across the day). His Institute considers personalised medicine to have a double meaning, one that it cares for the whole person and their context, including family, psyco-social-economic, environment etc. and to utilised molecular information. Have a 68 gene panel first introduced in 2014, now using a 300 gene panel, plan to move to exomes soon. Using a system called Syapse to collect, manage, visualise and manage genomic data.

Sheila Colclasure talked about general data governance and privacy issues, not specific to genomics.

Steven Kalkanis closed the session with some considerations for future precision medicine work. It was this talk that mentioned the only real non-genomic personalised medicines on the horizon.

Lesley Anderson from Inova, a genomics laboratory within the Inova Health System which serves a population of 2 million in Northern Virginia, in 2017 started offering whole genome testing with MyMap and Abel Kho spoke briefly about the All of Us initiative.

Outside of the symposium, I was impressed with ActX, an application that integrates genomic data from cloud stored VCFs in to the EMR, in the form of integrated pharmacogenomic advice, risk factors and traits. There is also a patient portal with patient focussed information.

I spoke at the genomics session of the International Conference about genomics in Australia, along side Erik Jylling, Bogi Eliasen and Sandra Poulsen from Denmark. Erik mentioned a fascinating statistic that only 2% of US genomic data are translated into clinical practise.

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