Christopher Ianelli M.D., Ph.D. CEO iSpecimen
Researchers Now Have a Myriad of Options to Help Them Obtain the Specimens They Need
As advances in precision medicine persist, and we collectively get closer to truly treating every patient as an “N of 1”, the challenge of finding the right human biospecimens on which to conduct preclinical research has grown significantly. Research into newer diagnostic tests, spanning an ever-growing range of “omics”, and treatment methods such as the recently approved cancer immunotherapies, require highly specific and highly characterized samples on which to conduct the research. These required characterizations may include specimen parameters that previously were unavailable—such as documented warm/cold ischemic times and specific molecular characterizations—in addition to precise patient parameters—such as specific treatment histories and responses.
Finding these specimens has been difficult, at best, but with the advent of electronic medical records, big data technologies, more sophisticated specimen collection processes, increased genomic testing, and of course the overall progression of medicine, researchers have a myriad of new options to help them obtain the specimens they need from the patients they want. A review of some of today’s most current biospecimen requests, along with the types of research for which they are being used, provides a view into not only what is being asked for in this day and age, but also, what is being received, as fulfillment of evermore complex inclusion and exclusion criteria has become possible.
Lung Cancer Research
To date, only three checkpoint inhibitor drugs, part of a class of immunotherapies, have received FDA approval—and only some cancer patients qualify to take them. Couple this with the fact that these approvals have all happened within just the past five years, and it’s easy to see that finding patients with this specific treatment history is challenging. But, to learn more about the exact mechanisms driving efficacy of these new therapeutics, as well as those that are diminishing or blocking it, additional research is needed—research that requires primary samples from patients exposed to the therapy.
By using technology to create a federated view into multiple, geographically distributed healthcare sites and watching for the right patient presentation, the likelihood of finding these samples improves. Researchers studying lung cancer were able to quickly secure “matched sets” of frozen cancerous tissue, corresponding normal adjacent tissue, plasma, and peripheral blood mononuclear cells (PBMCs) from a cohort of nearly 70 consenting patients. All three checkpoint inhibitors on the market, nivolumab, ipilimumab, and pembrolizumab, were represented within the cohort.
At present, acute myeloid leukemia (AML) holds a survival rate of less than 30%1 and the related leukemic condition of myelodysplastic syndrome (MDS) is only treatable through stem cell transplantation, which requires both a matching donor and a certain level of disease progression.2
Researchers must continue examining how these diseases work while ensuring that study environments closely mimic true-to-life conditions. As was the case with the PBMCs in the example above, live cells are in high demand, particularly for these aggressive cancers. A team of scientists studying both MDS and AML requested and received matched sets of live bone marrow cells and PBMCs from patients with either MDS or AML, with the intention of growing and observing these cells in proprietary, controlled tumor micro-environments to study their behavior.
With more than a million new cases diagnosed each year, colorectal cancer (CRC) is one of the most common cancers in the world; however, the prognosis remains poor if not detected in its early stages. One method of studying CRC, as well as other types of cancers, is by creating patient-derived xenografts (PDX) and transplanting them into mice, where researchers can study the cancer’s behavior when exposed to a variety of therapeutic modalities and environmental factors. But to do this, obtaining the right quality and quantity of viable malignant tissue is necessary, and that has been a bottleneck.
A group of researchers was able to acquire ten fresh samples of cancerous colorectal tissue along with corresponding blood draws from fully consented patients with late-stage CRC. Correlations will be examined between tumor behavior and circulating biomarkers in the blood to identify better treatment options for CRC as well as companion diagnostic tests that will indicate which patients are most likely to respond to the treatments.
As discovery in medicine evolves, the need for human biospecimens on which to conduct the research will remain essential. As we get closer to our pursuit of treating every patient as an N of 1, multiple questions will need to be answered about different subsets of disease, and how they present uniquely in different patients. As was recently asserted in a New England Journal of Medicine article, acute myeloid leukemia is actually eleven different diseases. From this statement alone, it is not difficult to understand how in order realize the goal of precision medicine, many classes of disease must be studied across individuals with unique demographics, exposures, medical histories, family histories, and social histories. As research questions proliferate, biospecimen needs will be as personalized as the science itself. Examples such as those discussed here show that the industry has been able to keep pace, allowing scientists to obtain highly specific samples to fuel their research.