Research16 Apr 2019

Explainer: What is phenomics and why does it matter?

It’s been heralded as the answer to a myriad of previously unsolvable medical questions, but what actually is phenomics?

Phenomics-DNA-image1
Photo Credit: Anton Novoderezhkin .

Earlier this year, the Federal Government announced $10 million dollars in additional funding for the Australian National Phenome Centre (ANPC), led by Murdoch University. The centre, which will be the only one of its kind in the southern hemisphere, has the potential to transform the health of millions of Australians.

Phenomics is an emerging transdisciplinary study that is exciting scientific and medical communities around the world, with the breadth of its potential. Minderoo supports the announcement of a Murdoch University-based ANPC as it will further Western Australia’s reputation as a hub for world-class research and innovation.

What is phenomics?

Phenomics is the study of how the environment and a person’s lifestyle interact with the expression of their genes to influence their health and risk of disease. Just as we have a genetic profile, we have a “phenomic” profile, a metabolic fingerprint.  

This field of study represents the next step in expanding the boundaries of our knowledge of human health and the causes and prevention of disease. Phenomics reveals the unique metabolic ‘signature’ of individuals and communities to better predict, prevent and treat disease. Your phenomic profile gives clues about how you personally will react to things like diet, medicines and other interventions such as radiation therapy.

Why it is so important?

Genetics is the study of the variation of inherited characteristics in our genes. Phenomics is the study of how genetic factors interact with social and environmental factors and the how this interaction impacts the health of individuals.

Social and environmental factors include things like diet, medicines and exercise. Some of these factors are closely correlated to disadvantage. For example, research tells us that if you live in certain socio-economic groups, you will be more likely to have poor diet, perhaps higher rates of smoking and lower quality housing.

Phenomics can help us to understand how our environment makes us more or less susceptible to a wide range of common diseases and how and why certain individuals react to therapies and treatments differently. The study of phenomics could explain why one person reacts well to a high protein “paleo” diet, where another may need less carbohydrates. The results may differ across countries and sub-populations.

Phenomics could also be used to develop personalised medicine. One area of ANPC’s research will focus on how patients, with their unique ‘phenomic’ profiles, respond to different therapies. A key goal of this research is to predict response to treatment, to improve efficiencies and maximise positive outcomes. When that data is shared across the world, it could lead to the development of tailored treatments for individual cases.

What is Forensic DNA phenotyping?

Forensic DNA phenotyping (FDP) is a new technology aiding criminal investigations, that enables authorities to draw conclusions on a suspect’s physical characteristics (that make up their phenotype) from discovered DNA. The phenotypic traits this technology can determine include appearance, biological age and bio-geographical ancestry. The findings can then be used to identify unknown perpetrators or help in missing-persons cases.

Although FDP has massive potential to be useful to the criminal justice system, the ethical and legal implications of the technology make it an area countries are approaching with caution. Because FDP results are based on probabilities, concerns have been raised about the potential for findings to be misunderstood or misrepresented.

These concerns are inciting debate across the European Union as to whether phenotyping in criminal investigations should be used at all. There is also demand for clear international guidelines to determine ethically and socially responsible FDP practice.

What does this mean for WA?

The Australian National Phenome Centre will be based at the Fiona Stanley Hospital, and led by internationally renowned researcher Professor Jeremy Nicholson. Professor Nicholson pioneered systems medicine and metabolic phenotyping at the Imperial College London.

The ANPC will provide the Southern Hemisphere with a link to a global network of phenomics laboratories. WA will be in complete synchrony with laboratories in the United Kingdom, Singapore, Hong Kong, China and the United States, following identical procedures using comparable technologies. This will enable experiments conducted in one laboratory to be comparable to testing conducted in another laboratory in the network. These results will then be used to target treatments, diets and other environmental factors for positive health outcomes.

Nina Derbyshire
by Nina Derbyshire
Nina supports Minderoo Foundation, particularly the Building Communities portfolio, in monitoring and evaluating the outcomes of our investments and partnerships. Her background in project co-ordination across a range of industries brings operational expertise to this role.
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