It’s no secret to anyone in the drug development industry that it’s incredibly hard to find potential candidate biomarkers to develop drugs. While much calculation, research, and prudence goes into ensuring the accuracy and assurance of a target biomarker, there are so many variables left in play that it is impossible to know for certain. This has caused a huge push in the pharmaceutical industry to identify ways to reduce R&D costs, time spent finding candidate biomarkers, and increasing confidence intervals for when a candidate is found. One method that many of the titans are turning to is genome sequencing.
The Rise of Adoption
Genome sequencing offers unique and highly valuable data points that would likely otherwise be overlooked. Large pharmaceuticals such as Regeneron, Roche, and Pfizer are leveraging this new found accessibility to sequence large swaths of humans to find high variant commonalities amongst targeted patient cohorts. For example, Regeneron publicly stated that they have found “several dozen” gene targets for drug development with high confidence due to a medium scale sequencing initiative, sequencing 35,000 patients of a certain cohort. This reduced the time spent in trial and error by simply showing research scientists at Regeneron where common variants were present. What would normally take half a decade or more to research, Regeneron did in a fraction of the time and cost.
Novel Variants with Deep Sequencing
New methods of genome sequencing have also unlocked more sophistication around gathered genetic data. As the market evolves, pharmaceutical companies are pushing to do large scale deep sequencing in an attempt to find novel variants within the genome. These could lead to deep insights around failures or manipulations that may be happening.
The value of performing exome sequencing to understand variants within protein-coding has also served the pharmaceutical community well. While the germline genome provides a comprehensive view of the Mendelian portion of genetics, the exome unlocks what is happening downstream of that. By performing both genome and exome sequencing, research scientists are uncovering the full story around what is happening to sick patients, which has historically been a mystery.
Insights through Informatics
With any genome sequencing comes invaluable data generated from each run. The field of bioinformatics has become increasingly important as we’re able to glean insights, correlations, and predictions within the genetic data. One post-sequencing analysis commonly performed in drug discovery is signaling pathway analysis. This type of analysis provides empirical data around molecular interactions which help researchers understand where abnormal molecular activation is occurring. Understanding abnormalities at the molecular levels enhance the ability for research scientists to hone in on key levers that they can design drugs against.
Cost Reductions, Drug Accuracy
Genome sequencing can also be heavily leveraged in early stage biologic drug development throughout strain optimization. Historically, biologic drug development has leaned more on classical genetics, which consisted of trial and error, creating large amounts of risk with minimal empirical knowledge around the construct of each sample produced.
Pharmaceutical companies have recently started to turn towards sequencing as an effective strain validator due to the precise ability to measure genetic drift amongst populations of biologic samples. These companies leverage this technology to fine tune the germline genome to be stable which, in effect, buy them an insurance policy when presenting initial findings to the FDA for early stage approvals.
As the world shifts toward emphasizing drug development precision, it’s becoming more clear that genome sequencing adopters gain a huge leap forward against the competition. With prices dropping significantly and the robustness of tools increasing each year, those who don’t adopt some level of genome sequencing protocol within their drug development process will likely be left behind.