Genomes, Big Data and the Journey to Precision Medicine

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Applied Clinical Trials

This month marks a landmark in the quest for personalized medicine and the growing role of big data in health sciences – from clinical development through tracking patient outcomes long after a therapy has reached the market.

This month marks a landmark in the quest for personalized medicine and the growing role of big data in health sciences – from clinical development through tracking patient outcomes long after a therapy has reached the market.

Fifteen years ago, scientists unveiled the sequencing of the human genome - the genetic map that details the DNA code that defines every human being. The Human Genome Project, which spanned nearly two decades from inception to completion, charted new frontiers in human biology.  The historic project opened the door to a new era of precision medicine that will enable patient treatments to be individualized based upon one’s inherited traits, potentially offering new, more effective treatments, and potentially cures, for some of our most complex diseases and conditions.

Much work remains to realize the true potential of precision medicine and big data, and the ability to effectively manage and act on it, plays an essential role.  Reverse-engineering the genome requires the rigorous use of data-management, computational and observational tools that only recently came into use - and are still improving.



Biological Passport: Gateway to Precision Medicine

Genetic testing now gives us the opportunity to pre-emptively identify patients at risk and track incidence of disease onset and degree of progression over a patient’s lifetime.  Health sciences organizations are now increasingly focused on the creation of individual personal health records inclusive of genomic data (e.g. biological passports) and the technologies needed to effectively utilize these data as the vehicle for accelerating the journey to precision medicine.  Just as a travel passport records every country to which you have ever traveled, a “biological passport” records a patient’s health and his/her reaction to environmental conditions and various drugs. 

The ability to collect unstructured data from social media, along with structured data from genetic sequencing, personal medical devices and the wider internet of things (IoT) has accelerated the variety, volume and velocity of available data.  Often referred to as the “intelligent economy,” this access to large amounts of multi-structured information, combined with the ability to analyze and act upon this information, enhances the ability to deliver individualized patient care, optimizes clinical outcomes, helps reduce the overall cost of care and creates competitive advantage in commercial transactions.  


These new data sources can provide access to real-time data perspectives on individuals, and populations as well as cohort and system behavior.  A deeper understanding of the genotypic and phenotypic expression of how drugs work coupled with real-time information on individuals’ reaction to drugs is fundamental to personalized medicine.  In clinical trial settings specifically, this type of real-time information on individual participants also provides the ability to monitor drug effects more effectively, supports adaptive study designs, helps improve the overall probability of technical success, reduces cost and helps identify targeted therapies for the right patients.


Since human physiology remains largely constant throughout a person’s lifetime, the biological passport/personal health record could provide a valuable individualized and granular view of what is normal for each person versus what is normal for a particular population based on a variety of demographics such as age or gender.  As such, with clinical and genomic patient characterization via biological passports, new treatments could be more effectively tested for targeted subpopulations.  This is in contrast to today’s drug testing approach to determine safety and efficacy, in which data are aggregated and analyzed across all patients exposed to an experimental treatment, regardless of genetic or clinical characterization or pre-selection.

The aggregation of biological passport data across populations creates “Big Data”.  These data provide a treasure trove of information to help define metrics of what does and does not work helping to develop greater precision in defining the best approach to creating an individualized patient treatment plan based on their individual genomic and clinical characteristics and presentation. And as drug development moves from a linear, step-wise pre-clinical to commercialization process to an iterative, bed-side to bench feedback-loop process, more real-world patient care data can be utilized earlier in development to identify better drug targets in disease metabolic pathways for enhanced clinical outcomes. 

We are seeing significant technological advances – specifically innovation in effectively collecting, storing, normalizing, analyzing, interpreting, and using data from many disparate sources. The challenges do not end there, however, as significant work and hurdles remain, including on the policy front.


First, privacy policy must effectively evolve with technology. The Health Insurance Portability and Accountability Act (HIPAA) and subsequent federal rules and statutes, require that large-scale genomic studies can be conducted only in tightly controlled “need to know” environments, using encrypted, statistically de-identified data sets.  Each use of data requires separate clearance, and in some cases, separate consent by each individual whose health data is being re-examined. This environment has made it more difficult to conduct collaborative, multidisciplinary research that is vital to advancing precision medicine.

Interoperability issues continue to impede progress, but are surmountable. The status quo encourages data silos, not cooperation.  The Precision Medicine Initiative, launched earlier this year by President Obama, has the potential to empower policymakers to reboot the system, with universally accessible electronic health records.  It is also important to strengthen “bottom-up” market signals, such as giving patients co-ownership of their health care records, including their genetic results.

Finally, we must do more to engage and empower health care consumers - the ultimate sources of data. This might include giving data donors access to basic information on the health implications of their genes along with periodic reviews to understand the new findings.

While the industry has made great strides since the first introduction of the Human Genome Project fifteen years ago, there is still much to be done to truly realize the potential of precision medicine.  Initiatives such as the biological passport, expanded interoperability, and new generations of technology that enable the effective use of big data from sources unimagined only a few years ago, are aligning to position the industry for new levels of success in this life-altering mission.


MaryAnne Rizk, PhD, Global Head, CRO Business Partnerships, Oracle Health Sciences; Tom O’Leary, Chief Information Officer, ICON