The Power of Genomics: The Road Less Traveled
October 10th, 2016
Posted by Shane Climie, Ph.D.
You could say that we’re in an era of ambitious genomic projects and healthcare is getting smarter faster than ever. From Illumina’s plans to become the “Google of genetic testing” to pharmaceutical companies’ adoption of DNA sequencing as the foundation of their business strategy, an arms race is underway to sequence, commercialize, and democratize genetic information.
Even the US government has gotten involved, assembling a cohort of 1 million individuals as part of the Precision Medicine Initiative. The $55 million study will provide detailed information about lifestyle, environment, and genetics, the latter coming primarily from DNA sequencing.
China and England are in the race as well. Six years ago, China became the global leader in DNA sequencing. Today, other countries are seeking to keep pace and increase their share of the world’s sequencing capacity. Most recently, we’ve seen the launch of a large-scale sequencing project in England. The 100,000 Genomes Project will generate DNA sequence, transcriptomic, and epigenomic datasets for 100,000 patients with cancer or rare diseases.
“All of a sudden, it all opened up. It’s starting to really become the new preferred model for drug development.”
– Dr. Eric Topol, Scripps Translational Science Institute, Reuters 2015
Genome England has already partnered with at least 10 pharma and biotech companies to create a public private partnership called the GENE consortium, which will analyze the data from a year-long industry trial to seek new drug targets and diagnostic markers. Members include AbbVie, Alexion Pharmaceuticals, AstraZeneca, Biogen, GSK, Roche, Takeda, and UCB.
The true value of the project will emerge as the result of combining both genomic and clinical data – providing biological context and revealing important disease associations. The use of Big Data technologies will certainly reveal important insights and provide numerous commercial opportunities as well.
“All of the companies are feeling like, ‘Oh my gosh. We have to do something substantial in genomics – yesterday.'”
– Dr. David Goldstein, Columbia’s Institute for Genomic Medicine, Reuters 2015
Many other pharmaceutical companies are already on the hunt for commercialization opportunities that will emerge from large scale sequencing projects. Amgen has realized significant benefits from their acquisition of deCode Genetics, that, in 2015 sequenced the genomes of 2,636 Icelanders, providing detailed information for about 1% of the entire country’s population.
Regeneron Pharmaceuticals has adopted DNA sequencing as the cornerstone of their drug discovery and development strategy. They are in the process of generating exome sequences from over 100,000 patient samples and are using that information to identify gene targets associated with obesity, diabetes and other disorders. Other companies including Pfizer, Roche, and Biogen are working on similar projects in an effort to discover new drug targets and to better understand and predict the effects of drugs.
More heavy hitters are taking a lead in the generation of massive amounts of DNA sequence data, including DNA Longevity Inc. and BGI. BGI announced that it will sequence a million human genomes, a million animal and plant genomes, and a million micro-ecosystems.
All of this will be complemented by numerous other microbiome sequencing projects that seek to reveal the importance of the microbiological communities that live within us. Epigenetic projects such as the NIH Roadmap Epigenomics Project seek to elucidate the “second genome” which is encoded in various chemical modifications of DNA that modulate gene expression, and many more projects are focusing on disease specific areas such as cancer, diabetes, obesity, neurological disorders and infections disease.
Despite the ability to generate enormous amounts of DNA sequence data at ever lower cost, many challenges remain to be overcome before the healthcare system can realize the full benefit of DNA sequencing technologies. Data analysis, interpretation, annotation, and reporting are still highly complex and well beyond the skills of most clinicians. Opportunities exist to streamline and automate the process, to develop better sample preparation, sample tracking, and analytical technologies. Companies such as Foundation Medicine, Guardant Health, Asuragen, and others have taken such steps in order to help drive the adoption of DNA sequencing as a diagnostic tool to stratify patients and to support the smarter management of patient care and drug selection.
The rise of circulating markers and single cell analysis are also providing opportunities to develop entirely novel types of DNA based test methods. All of this will continue to stimulate the demand for better technologies. Many tool providers, informatics companies, and clinicians are working together to help build and support the entire ecosystem.
Putting Genomics to Use
The real power of genomic information is only fully realized once we have the ability to correlate clinical outcomes with genomic data and the vast amounts of genetic variability that exists among populations. The analysis of samples from large numbers of individuals is what really fuels our understanding of the molecular basis of disease, providing the signposts needed to guide us toward better diagnostics, new drug targets, and improved patient care. Once we’re able to use this data to drive better outcomes, we can truly put genomics to use to make healthcare smarter. Precisely how to do this remains the subject of debate and can be best summed up in the words of Robert Frost:
“I shall be telling this with a sigh
Somewhere ages and ages hence:
two roads diverged in a wood, and I —
I took the one less traveled by,
And that has made all the difference.”
At Popper and Company, we look forward to continuing our work in shaping the genomics landscape and helping make strategic choices. Most recently, we helped a leading multinational pharmaceutical company expand into precision medicine and can help you understand this market, identify opportunities, and commercialize your products and solutions.
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