What pharma needs to know about genomic data in 2016

David Cooney|3rd February 2016

Since the Genome Project started in 1990, genetics has been the “great hope” of healthcare, promising to solve the great mystery of how illness and disease affect us on an individual level. About ten years ago, personalised medicine was a major step forward – tailoring treatments based on individual patient history and information. Fast forward to 2016, and investigating the central dogma of biology is still a major focus of healthcare research.

Now, more researchers are adopting a systems biology approach, combining genetic data with phenotypic data, such as patient records and clinical information, along with metabolomoics and epigenomics. At the forefront of this trend are Human Longevity Inc. and Calico, who are leveraging this multi-discipline approach to target the single biggest risk factor in all human disease – ageing.

Consultant David Cooney talks us through what this progress in genomics means for pharma in 2016.

Partnerships between major players will be increasingly important

Partnerships between companies like the Human Longevity Inc. (HLI), Calico, 23andme, and the award-winning Color Genomics mean that we’ll start to see some innovative research and development work in this area. While this may seem like future-gazing, the reality is that pharma companies are already collaborating with these companies.

Work by HLI in partnership with Calico is incredibly important because it’s pushing this research into the clinic to impact patient care. We believe 2016 will be the year we start to see the fruits of these partnerships emerge from R&D into the commercial space with innovative, genetic-based services. Which means that pharma needs to consider whether their value proposition will still hold if the competition is able to support their brands with genomic data.

Combining genetic data with records isn’t fully defined yet

While this approach is still in its infancy, 2016 will also be the year we start to see how this methodology data is going to impact the merging of genetic and phenotypic data to generate new therapies. While these emerging therapies do need to be better defined to ensure affordability and practicality of use in a hospital and clinic setting, they are already out there and being used to help patients.

Take for example, alirocumab, a monoclonal antibody that inhibits proprotein convertase subtilisin–kexin type 9 (PCSK9), has been shown to reduce low-density lipoprotein (LDL) cholesterol levels in patients who are receiving statin therapy, which has recently been approved by the EMA. It’s a direct result of this combined approach – where researchers combined genetic data with patient records to identify a protein responsible for overcoming hereditary hypercholesterolaemia patients.

This year, we expect to see more therapies being developed in this way, as well as more discussion around how to value and roll out these new, genomic treatments.

Patients already have access to their genomic data

23andme launched in the UK and Canada in 2014, and as of earlier this year, they have been approved by the FDA in the USA. While healthcare systems and providers search for the best way to utilise genetic data, disruptive companies like 23andMe are able to bypass healthcare systems altogether to deliver individual data and genetic insights direct to patients, empowering them to take ownership of their wellbeing.

However, they stop short of being able to give detailed context to the data delivered. We still don’t fully understand the interconnectivity of the genome, so the work being done by the Human Longevity Inc. is still very important for understanding what all this individual data actually means in the context of how illness or disease develops, and how it can be translated into clinically and economically feasible interventions.


The bottom line for pharma brands is that genomic data is transitioning from a clinical trend to a general healthcare trend. The public are engaging with genetic testing, and tech start-ups are developing new and effective services to support better care. In 2016, pharma and healthcare brands should decide whether they’re going to let this progress pass them by or start incorporating it into brand plans now, to stay on the cutting edge of innovation.


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