Whether it’s President Obama’s recently announced “Precision Medicine Initiative1” or Angelina Jolie’s decision2 to have her ovaries and fallopian tubes surgically removed to reduce the risk of ovarian cancer, personalized medicine is making major headlines these days – and for good reason. While healthcare has always been personal, never before have healthcare practitioners had access to the tools, technology and data we have today to truly begin customizing diagnoses and treatments for the conditions that ail us. In fact, the market for personalized medicine is growing at over 11 percent annually.3 However, innovation is not finite – fully leveraging new tools will require ongoing advancements if personalized medicine is to reach its potential.
We have already made significant progress in regards to how we understand and approach disease. Using biomarkers in combination with medical history and treatment outcome data, physicians and scientists are working to tailor diagnostics and therapeutics to distinct populations of patients who share similar characteristics — and, in some cases, to individual patients. Further, with the emergence of new tools to navigate through healthcare’s “big data,” we can now understand patterns like never before, allowing us to identify opportunities for these new tailored types of medical care. After developing new treatments and diagnostics, the next step will be ensuring the right patients get the right interventions for the best outcomes.
With all of this activity, it is no surprise that the medical industry is experiencing an unprecedented level of biomedical research. Researchers are now looking at diseases in a very different way – taking into account the fact that genetic variation and a patient’s unique environment have a substantial impact on disease presentation and response. A single disease can now be thought of as having a myriad of different subtypes if you consider all the possible background and environmental variations that could exist.
To accomplish all of this research, the precision medicine movement has, in turn, created an increased demand for human biospecimens – and, in particular, well-annotated biospecimens (i.e., biospecimens coupled with detailed specimen- and patient-level data). Well-annotated human biospecimens are biological “snapshots” of a patient during a specific moment in time and the cornerstone of effective translational research. Amazingly, at a time when we are studying disease at the genomic level, researchers still rely upon long-standing, frozen biospecimen inventories that often have very little patient data associated with them and therefore do not meet research needs. As personalized medicine develops and the role of the biospecimen becomes even more prominent, an emerging role for hospitals and labs becomes starkly apparent. The way we currently collect, store and annotate human biospecimens will have to change – a new model is needed.
Ever since the National Cancer Institute announced in 2005 that it would create a “Cancer Genome Atlas,”4 biobanking as an industry has received tremendous attention, mostly because of its potential to accelerate personalized medicine. In 2009, Time magazine even cited biobanking as one of the “top 10 ideas changing the world.”5 Unfortunately, despite the best intentions, biobank developers took an “if we build it, they will come” approach, which simply hasn’t delivered on the promise. The result is that many of these repositories end up holding specimens for years and years after having invested significant time, effort and capital into their development and don’t deploy the specimens into research efforts nearly as effectively as they had hoped.
Today, this concept of collecting and moving human biospecimens – these biological snapshots of patients – into research is still a top 10 idea, but it is clear that a “fresh” approach is needed to deliver on the original promise of advancing medicine. Hospitals and clinical laboratories that currently collect human biospecimens, and generally discard them when clinical testing is complete, will be key players in formulating this new approach as they are the natural conduits for patient flow, specimens and associated data. The application of emerging information technologies will be critical to a new, scalable system that can aggregate, de-identify, qualify and annotate high-quality human biospecimens from across the healthcare system exactly when researchers need them.
Hospitals, by nature, are pillars of community care and seen as stewards of keeping populations healthy and well. But hospitals also are faced with numerous challenges, particularly in the wake of healthcare reform. These include financial solvency and reputation. A new model under which hospitals and clinical laboratories play a pivotal role in ushering valuable biospecimens into appropriately aligned research efforts not only offers these organizations a way to satisfy their patients who wish to contribute, but also provides a mechanism for them to participate biomedical discovery. Moving remnant human biospecimens into the hands of today’s scientists creates opportunity for both research and reward. This one simple change to laboratory process – rerouting soon-to-be-discarded specimens – can help hospitals meet discovery goals, financial goals and, ultimately, patient care goals.
