Step 1: Diagnosis, Step 2: Treatment – the two cornerstones of clinical practice follow each other naturally, sharing considerations to plan a course of action. But what of initial prevention? What of Step Zero? In their revitalisation of personalised care, supporters of genomic medicine may also change how we utilise preventative measures, and the pharmaceuticals that bring them.

The Case for Genomics

Discovering an individual’s specific medical sensitivities is a tricky issue. Willingness to seek a health risk assessment varies wildly amongst the population, particularly when no dangerous factors are immediately apparent.

Questions on familial medical history aim to bring potential, underlying problems to light, but are generally unreliable without further, more rigorous testing. For diseases with hereditary genetic risk and less obvious initial symptoms – haemochromatosis, Alzheimer’s, cancers – this can prove devastating.  This is one of the reasons why non-invasive, genome-based study of disease is on the rise.

A Growing, Personalised Approach

In our previous article on the subject, we detailed the basics of genomic medicine, and the potential of DNA sequence records to find undocumented genetic links to diseases. Genomics England’s 100,000 Genomes Project has since acted as something of a proof of concept, and interest in large-scale genomic projects has seen an international boom. The French Government is in talks with Aviesan to fund an ambitious national genomic medicine sector,(1) and the USA’s National Institute of Health has pledged a further $55 million towards the President’s Precision Medicine Initiative.(2)  

There has been continued debate in the pharmaceutical industry as to how these new breakthroughs can be practically applied to routine medicine. At Paramount, we think that success will come to those who are able to use this new information to make better, faster decisions in Pharma.

Prognosis is becoming more thorough, with genetic factors rapidly becoming equally as important as factors of lifestyle and environment. We believe that this knowledge has the potential to prop up a wealth of new, interventional pharmaceuticals. It is here that the importance of prevention also comes into play.

Step Zero

With a flourishing international interest in large-scale genomic databases, the potential benefits of making a patient’s genome a standard part of their electronic health record are coming to light. An at-hand genome enables better care in the face of illness, as well as a less invasive, gene-based health risk assessment. This would allow a patient to assess their ingrained susceptibility to certain diseases, and to tailor their risk-reducing pharmaceutical measures accordingly,

Though these are still early days, some studies work to demonstrate how this scenario might look like in practice. Writing in Genome Medicine, Nicholas Schork describes a study by CJ Patel et al into the genetic signposts of diabetes.(3) The study confirms how ‘genetic markers performed best when predicting long-term development of diabetes, whereas clinical laboratory assays (such as insulin and glucose levels) performed best when predicting its short-term development.’

This finding is remarkable, but of special note are the outliers. Two individuals displayed genetic predispositions to diabetes, despite lacking in the physical symptoms that a traditional clinical test would work to uncover. As Schork describes, these patients are ‘defying their [susceptibility], perhaps through disease-mitigating behaviours, pharmacologic interventions, or an unknown protective effect.’

How to make the unknown known? Perhaps, in the future, new pharmaceuticals will see that such mitigating measures are taken up early, rather than being incidental or accidental. With renewed interest, the precision medicine market is expected to reach $87.79 billion by 2023, which correlates with the growing, $8 billion gene sequencing market.(4) The time seems ripe.

References:

http://presse.inserm.fr/en/presentation-of-the-french-plan-for-genomic-medicine-2025/24328/

https://www.nih.gov/precision-medicine-initiative-cohort-program

https://genomemedicine.biomedcentral.com/articles/10.1186/gm458

http://www.healthcareitnews.com/news/precision-medicine-market-skyrocket-past-87-billion

http://www.frontlinegenomics.com/wp-content/uploads/Genomics-101-FLG-Final.pdf

https://www.mja.com.au/journal/2014/201/1/impact-genomics-future-medicine-and-health

http://qjmed.oxfordjournals.org/content/93/7/391