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.

The journey to needing bespoke care is also bespoke.

The health ‘system’ and our care model are focussed on the sick. A full life is so much more than not being sick. Some of us live with lifetime disease or disability, yet that does not define us and nor should it. What we all want for ourselves and our children is a life of opportunity, of freedom, of choice, of equity and equality, and of happiness.

Precision medicine will help us manage medically but what about our exit from the health system and how to stay well or manage within our own health context?

Diagnosis is related to our conditions, disabilities and required interventions but what about diagnosing the impact on life and quality of life? Managing the impact becomes directly linked to the ability and capacity of the individual to advocate for and to pay. Difficulty managing the impact is what often leads an individual back into the health system – the stress makes us sick.

We are so much more than our conditions!

In 2018 as part of the Horizon scanning series, the Australian Council of Learned Academies (ACOLA) published a report on ‘The Future of Precision Medicine in Australia’. This paper is a comprehensive analysis from many angles about what’s happening, what opportunities exist, what the future may bring, the underpinning science and the system implications – or at least it was in January 2018.

We are living in times of such rapid change that in some cases the future is here, in some cases the future forecast is no longer the one we want or need and, in some cases, we are still looking forward with hope.

The position of health consumers however remains the same.

We want and need fair and equal access to emerging technologies, treatments and services, to clinical trials, to answers and support.

Our landscape is also increasing in complexity. We have more diagnosis without treatment options; more pre-natal choices; more need for support from peers and support systems such as National Disability Insurance Scheme (NDIS) and mental health services. Our families are under increasing pressures of: disclosure, financial, uncertainty as ageing and mental health challenges become apparent; more complex and chronic conditions because people survive with them longer. Much of this is occurring outside what is traditionally called the healthcare system.

To reaffirm the HISA Precision Medicine Community of Practice’s definition:

Precision Medicine seeks and analyses a wide range of patient information, such as clinical observations, biomarkers (including genomics) and patient generated data. It triangulates this information within the context of lifestyle, behaviour, environment and medical history to inform and personalise prevention, diagnosis and treatment at an individual, patient cohort and population level. As an emerging clinical practice, precision medicine will adapt and transform over time by incorporating innovation and discovery, resulting in bespoke care.

So, precision medicine as a strategy for improved care needs to embrace precision impact planning. Artificial Intelligence technology may allow us to correctly interpret external data, to learn from such data, and to use those learnings to achieve specific health and well-being goals. We cannot wait while the technology emerges and moves to mainstream.

We need precision medicine plans that include specialists, GPs and allied health as well as precision impact plans that include education, transition, service access, NDIS, support for families and individuals financially and with advocacy.

Stop asking me to do what I cannot, with things I can’t access, to be someone I don’t want to be – let me be the best me I can.