Christopher Ianelli M.D., Ph.D. CEO iSpecimen
David Wages M.D., Ph.D. CMO iSpecimen

The Next Frontier Beyond the Biobank

In January of this year, President Obama announced he would allot $215 million for precision medicine research into the 2016 budget. Fast forward to June and the National Institutes of Health (NIH) commenced NCI-MATCH, the world’s largest ever precision oncology trial. It is clear that precision medicine is no longer futuristic or conceptual—the movement is happening now, with healthcare stakeholders steadfast in the conclusion that medicine will need to focus on finding the right therapies for the right patients at the right time. But developing these precision therapies will require a new set of tools and a new way of thinking. Luckily, advances in technology have equipped us with research techniques we never before thought possible, as well as technical capabilities to manage and manipulate unprecedented volumes of data. Prepared with these new means, we are on the brink of great discovery. One critical component, however, is still lagging behind: The organization, procurement, and dissemination of high-quality, well-annotated human biospecimens on which to conduct the critical biomedical research to find tomorrow’s cures.

Currently, human biospecimen procurement continues to be largely “low-tech”, which is ironic in this age of continuous medical innovation. We study disease at the most intricate level—down to discrete genomic components—yet the samples upon which we conduct the research are so often amassed in a fragmented, disorganized, and uncontrolled manner. Many scientists cobble together specimen collections from a variety of biobanks and other sources that are simply familiar or convenient to them—with each facility employing vastly different, and certainly less than ideal, methods of collection, storage, and annotation. Collection processes are time-consuming and labor-intensive, often not even resulting in the amounts or types needed. In fact, even six years ago, well before we experienced the explosion in research we are seeing now, 81% of cancer researchers in one National Cancer Institute study said they limit the scope of their work due to the shortage of quality biospecimens. Slow and steady won’t win this race. As the rest of the industry propels forward, the straggling component of specimen procurement—and especially the procurement of specimens coupled with rich clinical data—must catch up to the new frontier in order for precision medicine to reach its full potential.

Biobanking came onto the scene more than 15 years ago, with the promise of helping researchers find the specimens they needed when they wanted them. Rather than relying on ad hoc tissue collections as described above, biobanks would allow researchers to look for specimens systematically—and an exciting new industry emerged. In fact, in 2005, with much fanfare, the National Cancer Institute, under the auspices of the NIH, announced it would create a Cancer Genome Atlas with biobanks across the country ready to contribute hundreds of banked tumor samples. Four years later, in 2009, Time magazine called biobanking one of the “top ten ideas changing the world”; however fanfare was short lived. Because biobanks were still discrete and separate institutions and not plugged into every researchers’ projects, it wasn’t particularly clear to biobanks which samples were needed by researchers and it wasn’t clear to researchers where the right samples could be obtained. Furthermore, collection and storage techniques continued to lack consistency, with different procedures occurring at different biobanking sites. Finally—and most critically—it was not clear what data should accompany specimens or where that data could or should come from. The result is that biobanks have built enormous and costly inventories, but extracting value from these collections has proven to be very difficult—and  researchers still don’t have all the specimens they need from the types of patients they’d like to study.

In order to keep pace with the way medicine is moving, and the needs of today’s researchers, biospecimen procurement must meet the following requirements.

• Data
Without accurate, associated specimen- and patient-level data, samples are often of limited use. Researchers need to know detailed information, including patient demographics, disease states, treatments, and outcomes. What procedures did the patient undergo and how did they respond? What co-morbidities were present? What were the family histories? These are just some of the questions that need answering in order for a sample to deliver full value. Researchers should be able to know what happened to the patient whose tissue they are studying. And the data must be obtained ethically, with full compliance oversight and de-identification if necessary.

• Dynamic vs. Static Collection
With today’s new understanding of genetics, it is clear that human biology is ever-changing, with mutations no longer identified only at birth but potentially throughout the course of a patient’s life. Following patients and their samples over time is essential to today’s research. And knowing a patient’s DNA sequence alone is not enough, even over time—what is needed is a reliable mechanism to collect multiple samples from patients over time, as it is now evident that DNA is mosaic—not the same in all of our cells. This means that not only do researchers need quality, data-rich samples from potentially different points in time, but also they need a variety of samples from the same patient to truly study the course of disease at the individual level. With precision medicine now drawing so much information from proteomics and metabolomics – and not just genomics – the need for a new model is now greater than ever. Samples and datasets will need to be collected dynamically, at different points in time, to truly understand disease processes. The next frontier will need to enable the study of the genome, the proteome, and other “omes” over time and under different conditions. Indeed, this may lead to healthcare providers filling a somewhat novel role in the system – one that allows them to longitudinally sample their patients over the course of care and treatment, for the purpose of furthering research.

• Distribution
Samples will need to be disseminated broadly and efficiently—and this will require technology.
Researchers can no longer go to a fixed, stable set of patient samples with limited information to try to get the answers they need. Fortunately, increasingly sophisticated information technology can help address this challenge, consolidating “virtual specimen inventories” across sites for retrospective, real-time, and prospective collections, depending on researcher need. Electronic medical record and laboratory data can be de-identified and paired with specimens moving into research, so that distribution includes not only the sample but rich annotations.

As medicine evolves and delivers on the expectations of precision medicine, so too will specimen collection and dissemination, if we expect to maintain momentum. As medicine moves forward with new technologies and new procedures, specimen procurement must move beyond the biobank, aggregating hospitals, labs, biobanks and the like through technology, offering their collective wealth to the scientists who need quality, data-rich samples.

Christopher Ianelli, M.D., Ph.D. ([email protected]), is CEO and David Wages, M.D., Ph.D., is chief medical officer at iSpecimen.

Previous articleFerring Pharmaceuticals, Intralytix to Partner on IBD Treatment
Next articleGun Violence: Public Health Issue or a Crime?