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HUGO Part 2 – What is it all for?

Kahlil Lawless
| Apr 23, 2013
Health or disease?

Genomics is an indecisive teenager that is scared to move out of the research lab and get a real job. His parents that have been funding him for a long time, and now they want him to start paying his own way in the world. He will, but it’s a big step- and he’s going to need some guidance because, well, he’s different. 

HUGO 2013 seemed to be wrestling with this topic. Many of the talks were in part dedicated to how the discoveries may be or are being applied, and if this wasn’t addressed, it tended to be the first question from the audience. Answering this question is not simple, and it takes brave and influential individuals to blaze a path for others to follow. As we move out of the lab and into the clinic there are challenges, and I would like to focus on three of these that cropped up during the conference, because we may need to overcome them to realise the intended end-game: the delivery of cheaper, better, more effective healthcare the world over. 

The World Is a Clinical Trial

A major issue facing genetic testing is the need to annotate and validate all of the potential deleterious mutations that can and ever will be. This is a mammoth task, and a moving target due to the dynamic nature of genomes. It may also be unnecessary. In theory, if accurate medical records are kept electronically (phenotypic data) and clinical genetic data is made public, then our databases may already contain the statistical power needed to both identify and prove the effects and utility of genetic variants. Such was the model suggested by Geoffrey Ginsberg, an advocate for a unified system of electronic medical records in the United States. Treatment decisions in the future may be based on medical metadata alone. The importance of having whole population data was emphasised by Professor Partha P. Majumder, who demonstrated that vaccine effectiveness was underpinned in part by the genetics of the vaccine recipients. This challenged the idea that post-vaccination infections were due to mutated pathogens, and tracking of these individuals and retention of their genetic data could lead to more effective vaccination programmes that could be tailored to screen for patients for whom certain vaccines would be ineffective. 

Untapped Genetic Capital

Speaking of clinical trials, nobody does more of these than the pharmaceutical industry. These large and costly experiments are meticulously phenotyped, genotyped, sequenced, and the samples bio banked. This represents a veritable treasure trove of genetic and phenotypic data, which if a case could be made convince these companies to share, would greatly increase the pool of data from which to source and validate genetic findings relevant to human health. Such was the utopian vision of Klaus Lindpainter, a world where public health and personalised medicine work in concert rather than as competing interests. He painted (sorry, couldn’t resist) this combined data pool as the future fishing grounds of R & D for pharma, and the potential stimulant needed to pull the current downturn in new drugs out of the nose-dive that is concerning this sector. Realising this dream is an ambitious undertaking, and a noble one at that, but in the fiercely competitive world of pharmacology the idea of handing over the keys to the bio-bank is going to be a tough sell. 

Sorry, I don’t speak DNA

The main hurdle now facing adoption of genetic analysis tools in the clinic is translation. Doctors aren’t like researchers; they don’t have three years to ponder if this mutation really does cause elephantitis. Most of the time, physicians will be lucky to have three minutes to make a treatment decisions, so transforming the current language of genetic analysis into something comprehensible and actionable is of paramount importance. Patrick Tan demonstrated a new array-based bacterial disease panel, and his own annotation software to provide actionable reports that are sent directly to a tablet or smartphone, to be used in Singapore’s hospitals. Not to be left behind, industry is racing to build the annotation databases and code the software to increase the accessibility and ease-of-use of genetics in the clinic. 

These are but a few of the challenges facing genetic medicine, and progress is certainly being made. Geoffery Ginsberg called 2012 a “banner year for pharmacogenomics’, with more new gene therapy products reaching the market than ever before. 

A big thanks to the HUGO/ICG conference organisers, the speakers, the sponsors, the exhibitors, and the attendees. Cheers to all who came to Illumina’s VIP party down at Avalon Crystal Pavilion overlooking Marina Bay and boogied on down to the beats being mixed off the MiSeq.

MiSeq Rocking