New paradigms for health as the genomics revolution hits

Philippa Brice

8 May 2018

A new report endorsed by the Garvan Institute in Sydney sets out current and emerging health and commercial applications of genomics.

The Garvan Institute of Medical Research has established a global reputation for excellence in genomics research, having been one of the first customers for the then ground-breaking Illumina HighSeq X-10 systems for ultra-high throughput, low-cost genome sequencing. Only last month it announced the discovery of a new form of DNA structure, the i-motif. The Garvan also undertakes research into cancer, precision medicine, clinical genomics and a wide range of other diseases.

Australia as a whole continues to place increasing emphasis on biomedical science, especially genomics, with the new federal budget having allocated AU$500 million from the Medical Research Future Fund to focus on genomics, including expansion of screening for genetic disorders. This is part of a 21st Century Medical Industry plan to stimulate commercial growth over the next ten years.

Now the Garvan has released the Garvan Global Genomics Report, said to be a ‘landmark analysis’ that assembles hard data from scientific publications, patents and clinical trial registries alongside ‘commentary on the business models of several hundred companies applying genomics to medical and consumer health markets’ to demonstrate the strategic significance of genomics.

The author of the new Garvan report is Thomas Barlow, an independent consultant and ‘leading thinker on technology trends and research strategy’. He reportedly developed the report in conjunction with the Garvan’s outgoing Executive Director Professor John Mattick, who is taking on the newly created role of Chief Executive Officer for Genomics England, which oversees the UK’s 100,000 Genomes Project.

The price of unpacking the genomics revolution

Significantly, the report is not freely available; access must be purchased from the author’s consultancy company website for several thousand US dollars - but this will apparently provide ‘unique insights, perspectives and data’ to help place purchasers ‘at the forefront of this rapidly unfolding revolution in healthcare’. Without actually reading the full report, it is not possible to comment on the contents, but the executive summary says that in the last few years there has been ‘a surge in scientific publications relating to “personal genomics” and in patents referencing “whole genomes”’ as research moves from the study of single genes to whole genomes, complex traits and personalised analyses – and is even becoming a ‘vital component of health provision’.

Anyone interested in the genomics and healthcare markets who had not yet noticed this potential link between the two might perhaps be better off starting with one of the many freely available and authoritative reports on genomics and health released in the last few years, from the PHG Foundation or elsewhere – Generation Genome, the 2016 annual report of the Chief Medical Officer for England offers plenty of insights, for example. However, for a specifically commercial / healthcare market focus, as well as the data behind it, the Garvan report could be the choice. It notes that the genomics revolution is stimulating rapid growth in a diverse range of new companies offering ‘a host of new medical products and services’.

Interestingly, these changes are also said to be disrupting the distinction between prevention and treatment of disease, and between health and consumer services. This is entirely plausible, though it would perhaps be fair to say that many other emerging technologies are also contributing to the disruptive effect on healthcare heralded by genomics. It does, however, raise some important questions about who will benefit most from these developments, and indeed how consumers will be able to distinguish between bona fide providers of clinically valid and effective insights or interventions, peddlars of stuff and nonsense, and everything between. Many companies have impressive sounding offerings around genomic analysis and health and wellbeing, but some are a great deal more genuine than others.

Personalised prevention – or the new paternalism?

Moving beyond the new report, it is not surprising to learn that Prof Mattick, like many others, believes in the transformative potential of healthcare data (not least genomic data) – it would be worrying if he didn’t. In particular, he has a vision that it will disrupt primary care provision; the Garvan’s commercial arm Genome.One is reportedly developing a technology to integrate genomic analysis into primary care software.

Prof Mattick recently reportedly said of current medical consultations: “They’ve got what's in their head, they can look up stuff in the computer a bit, they take your temperature. There's no real information about you as an individual”. However, armed with the right data (and perhaps Genome.One’s software?) he feels this is set to change: “…you’ll walk in and they’ll say, ‘Welcome, let's have a look at what the reports are showing. It says you are at elevated risk for blood clots. You didn’t know that but you are. Don’t worry, just take an aspirin a day and you’ll be fine and we’ll head off that DVT episode in the sky or the stroke’.”

This sort of vision – unpalatable as the articulation of it may be to those who prefer a person-centred approach to medical consultations – is probably accurate in many ways. Making proper use of big data, whether derived from research across populations or from multiple biomarkers relating to an individual, should indeed give us new potential to offer more precise and targeted personalised risk prediction and preventative strategies. Much of the current work of the PHG Foundation is based on this very premise.

It is to be hoped that the increasing use of AI in healthcare to manage this data will not only offer greater insight and precision, but also free up time for health professionals to focus on the all-important human interactions and priorities that matter to individual patients, as well as to explore the wider opportunities for prevention, such as social prescribing. Personalised medicine, for all its undoubted potential, should not be a recipe for increasing paternalism in healthcare. Similarly, whilst the stimulation of a burgeoning industry in genomics and personalised medicine is overall a good thing that should continue to deliver innovation and patient benefits, it will be important to help patients and other consumers distinguish the genuinely useful opportunities from the hype.

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