By Jill Mullan, Chief Operating Officer, iSpecimen Inc.
Imagine a library that purchases books but is unwilling to lend them to more than a few select people, a dating site with no way to see the available singles, or eBay with no button for obtaining what you see.
That’s similar to what what’s happening in biomedical research today and, specifically, in the biospecimen world. An estimated 500 million human biospecimens – biofluids, tissue and cells – reside in U.S. biorepositories. That’s more than one specimen for every citizen in the U.S., theoretically ready to be studied. Researchers, however, are having a hard time getting their hands on these specimens for their work on new treatments, diagnostics, and cures.
These specimens are more than just fluids, tissues, cells, and their biology. They contain a potent source of data that could be analyzed to uncover new health insights, such as biomarkers, that signify potential disease or a match for novel treatments. Every specimen that a researcher examines yields critical data that can be shared with the global medical community for study. Sadly, every unexamined specimen is potential biomedical data that never comes into existence.
Too many of these data-rich specimens are effectively inaccessible to researchers because of biobanking habits, policies, and technology limitations. In fact, four out of five researchers in one study told the National Cancer Institute that they’ve had to limit the scope of their work because of the difficulty of procuring high-quality specimens.
Thus, in a world where new tools and discoveries are creating exciting new biomedical opportunities every day, there’s a huge gap between this untapped supply of biospecimens and the significant pent-up demand for them. And while the internet has changed the way those with products and services reach people who need them in almost every industry, the biospecimen community has mostly been left without a way to easily and efficiently connect.
The Specimen Gap is widening
This Specimen Gap is compounded by lack of visibility into specimen collections. Researchers know specimens are out there in big numbers, but they often don’t know how to find biobanks that have available samples. Even when they do find biobanks, they typically have a hard time identifying samples that meet research requirements because most biorepositories haven’t made their inventories discoverable or searchable. As a result, researchers waste time and money rounding up research material the “old-fashioned way.” They struggle by phone, email, and word of mouth to cobble together enough samples to support meaningful work. Sometimes these researchers succeed in their specimen search, sometimes they don’t. And almost always it takes significant time, delaying important discoveries.
At the same time, the advent of precision medicine requires researchers to study more specimens than ever in order to discover new therapies or pinpoint unique biomarkers that indicate whether a patient will respond to a therapy. Thus, the specimen procurement gap is only growing as specimen demands increase in number. Additionally, requests are becoming more customized and requiring more clinical data in response to precision medicine initiatives. For example, in the past, a researcher may have been fine studying tumor tissue from lung cancer patients, but now she may want to study non-small cell lung cancer patients with EGFR mutations who have been on EGFR inhibitors and have not responded to the therapy – significantly complicating the acquisition challenge.
Since bridging the Specimen Gap is our raison d’être, we recently studied the problem in depth. Although biobanks are most definitely part of the solution to the Specimen Gap, and they are our trusted and valued partners, our findings convince us they need to embrace specimen sharing. The internet is the obvious way to do it.
Biobank review results
In our recent review of data from a cross-section of biobanks , we found that the majority of biobanks are collecting more samples – and in some cases, 10 times as many samples – as are released for research. In fact, in part because samples are stored and held instead of being released to research, more than 40 percent of banked specimens are at least five years old.
If unused, these samples can quickly become obsolete. Consider again the researcher who needs samples of NSCLC tumor tissue from patients with an EGFR mutation who failed to respond to EGFR inhibitor therapy. A five-year old sample from an NSCLC patient would likely not be usable for this study as these samples would not have been characterized for the critical genetic mutation when collected five years ago. That means the researcher would likely need to sequence the five-year-old samples herself to find those with a positive mutation. And she would likely need to test more than five times the number of samples she needs since roughly 20 percent of patients with NSCLC have an EGFR mutation. Moreover, the sequencing takes time and money, removing resources from the research stream. Ideally, newer samples from patients who are routinely tested for mutations as part of their standard care would be available for sharing and visible to researchers as soon as they are collected.
It’s not about the banking
Despite the name, “banking”’ or storage is the wrong mission for biobanks. Rather, the goal of a biobank should be to create a quality selection of samples that regularly make their way into the hands of researchers who then use them to create scientific data. That happens through specimen sharing and broadening the base of researchers who have access to the samples. So, I’d propose we stop celebrating biobanks for the size of their collections and instead start rating them on the volume of samples that leave their bank and head into research.
Underutilization of samples causes sustainability issues
Fortunately, biorepositories are coming to understand the sharing imperative on several levels. Sixty-seven (67) percent of the participating biobanks in our survey cited underutilization of samples as a major or moderate biobank challenge – the most frequently cited of 13 choices. Meanwhile, 64 percent of respondents cited economic sustainability as a major or moderate biobank challenge, the second-highest of 13 choices and the number-one major challenge. Underutilization of samples and sustainability go hand in hand. When samples are underutilized, biobanks are leaving a badly needed revenue source on the table.
One reason biobanks underutilize samples is their outdated policies around specimen sharing. Only 44 percent of respondents release specimens to external researchers from for-profit organizations (e.g., pharma and biotech companies) with whom they’re not actively collaborating. Only 24 percent of respondents said specimens are released to specimen brokers or commercial biorepositories. However, in order to increase specimen utilization, reaching a broader group of researchers is essential.
Patients clearly want wide sharing. When consenting to submitting a sample, patients hope that a motivated researcher will use the sample in important research, achieve a breakthrough, and cure their disease. Thus, the organization collecting the sample from the patient is expected to be a steward of the overall research process and purveyor of patients’ wishes and not simply a holder of material for an internal project someday.
Nonetheless, only four (4) percent of respondents in the new research said the number-one goal of their organization is “to support the wishes of the philanthropic patient.” Sixty-five (65) percent selected reasons reflecting the prestige of the organization, including “supporting research within our own organization (45 percent),” “increasing publications at our organization (14 percent),” and “increasing the stature of our organization (6 percent).” Changing attitudes and becoming patient-centric will ultimately help the patient, healthcare in general, and the biobank.
Commerce qualms and technology limits
Another issue contributing to the Specimen Gap is the reluctance to engage in a financial transaction around human biospecimens. Biobanks need to understand that charging for the service of providing biospecimens to the research community at large is absolutely fair and essential to their operational and economic sustainability. When biobanks choose not to offer samples to bona fide external researchers, they are disregarding a viable path to sustainability which may jeopardize the very existence of the biobank. It’s false ethics to shun commerce out of undefined principle if it means impeding medical research. Commerce has driven much of the world’s humanitarian progress, medical and otherwise.
Technology remains an obstacle
Technology is another problem constraining sharing. According to the survey, more than half of biobanks are using primitive ad hoc systems, e.g., spreadsheets or SQL databases, to manage their specimen inventory and data. In a Google-driven world, these applications pose challenges for average computer users – including researchers in their own organizations.
In fact, nearly 3 out of 4 respondents to the biobank survey said they lack any system to search for cases or specimens they require. Ideally, they would have a commercial laboratory information management system (LIMS) to track their inventory, as well as a technology solution for searching for and ordering specimens from this inventory.
Complicating the technology problem is the wide disparity in data schemes that biobanks use to manage specimen inventory and data about those specimens. More than two-thirds of respondents reported that they use internally defined standards – versus biorepository or health care industry standards – for data harmonization across their collections.
The biomedical industry is capable of closing the Specimen Gap by doing for research what e-commerce has done for consumers: bring “product” online, enable highly specific searches, and eliminate unnecessary friction. Using a marketplace model, qualified researchers could more easily procure:
1) Biobanked specimens ready for research, and;
2) Specimens from patients willing and able to prospectively provide them.
Specimens could be annotated with compliant de-identified electronic medical record and laboratory data from a supplier network of hospitals, labs, biobanks, blood centers and other healthcare institutions. Researchers would see detailed information about individual specimens and the patients who donated them in a single, harmonized view as well as gain visibility into aggregated patient data to understand how long it would take to prospectively collect samples for specific patient populations. The ideal marketplace would embed and manage consent, compliance and contracts. And it would sync with commercial medical record systems, laboratory information management systems, laboratory information systems (LIS) and researchers’ procurement systems.
The Specimen Gap is eminently closeable. Specimens abound, researchers need the data embedded within them, and the technology to streamline distribution is here.
To fully exploit the value of specimens and the data locked within them, it’s time to fill the Specimen Gap with a marketplace that transforms all the pieces and players into a unified movement headed in one productive direction.
If libraries, dating sites, and eBay can do it, so can we. Medicine is life or death. Let’s do this.
About the author
Jill Mullan is the Chief Operating Officer of iSpecimen. Jill is responsible for ensuring operational excellence throughout the company. In this position, she oversees iSpecimen’s supply partner programs and operations, human resources, marketing, corporate communications, and corporate strategy. She is also responsible for ensuring regulatory compliance, privacy and security across the company’s operations.