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Specimen Gap Threatens Medical Progress

An estimated 500 million human biospecimens—biofluids, tissue and cells—reside in U.S. biorepositories. That’s more than one specimen for every citizen, ready for study. Meanwhile, four out of five researchers tell the National Cancer Institute they’ve had to limit the scope of their work because of the difficulty of procuring high-quality specimens.

One explanation for this frustrating specimen gap is lack of visibility: researchers don’t know what specimens are available and from where, and biorepositories haven’t made their inventories discoverable. As a result, researchers struggle by phone, email and word of mouth to cobble together enough samples to support their research into potential new treatments, diagnostics, cures and vaccines.

Not a new issue


Specimen procurement today is like dating before, travel before, and book-buying before Although supply manages to satisfy demand from time to time, the transaction often disappoints.

Nonetheless, thanks to recent genomic advances, we now know more than ever about specific molecular pathways, biomarkers and other biologic processes within an individual or disease category. The promise of providing the right therapeutics to the right individuals based on their unique physiologies hinges largely on our ability to collect terabytes of information about millions of individuals, their genes, their diagnoses, their demographics, treatments, and of course their outcomes.

These data sets are increasingly derived from analyses conducted on human biospecimens—such as a vial of blood, a section of diseased tissue or just a simple cheek swab. As medical insights are gleaned from these haystacks of big medical data, researchers fi nd themselves in need of even more human material to validate and extend their fi ndings. They need growing amounts of blood, urine, feces, cerebral spinal fl uid, tissue, viable cells and more to develop next-generation medical solutions. And they need samples of unprecedented specificity. Rather than 50 samples of breast cancer tumor tissue, for example, a researcher may need 50 samples of tumor tissue from patients with triple-negative breast cancer—signifi cantly complicating the acquisition challenge.

The solution to the specimen gap is no medical mystery. It’s largely a technical hurdle. But not entirely. Attitudes around specimen sharing also come into play.

Why biorepositories exist


Biobanks were created to fuel medical advances. They would collect the biospecimens, release them for study and enable researchers to learn something new. In too many cases, however, only the collection phase is happening. The majority of biobanks are collecting more samples—sometimes 10 times as many—as are released for research, according to new research.

If unused, these samples can quickly become degraded or obsolete. Approximately 42 percent of biobanked specimens are at least five years old. Consider again the researcher who needs triple-negative breast cancer tumor tissue. It’s unlikely that a five-year old sample of a breast cancer tumor would have been characterized for critical biomarkers. A researcher with a need for 30 samples of triple-negative breast cancer tissue would likely need to sequence five-year-old samples themself. And they would need more than 100 samples to start, since triple-negative constitutes only 15 percent of breast cancers. Moreover, the sequencing would consume a portion of each sample, removing critical specimens from the research stream. Ideally, samples would be used shortly after collection and replenished several times over, using up-to-date testing each time.

The sharing imperative


In 2005, Sydney Medical School Associate Professor Daniel Catchpoole described a phenomenon he termed “biohoarding”: “Rather than biobanking, we have been engaging in ‘biohoarding’, where building a quantifi able collection of tissue samples is the primary basis of the bio-resource. The root cause of ‘biohoarding’ is an ideological and motivational confusion as to the purpose for collecting the tissue in the fi rst place. We have lost sight of the knowledge gain that biobanks should generate.”

The mission of a biobank should not be “banking”’ or “storage,” but rather targeted, quality collection of samples and their effi cient conversion to useful data.

Yet only four 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-fi ve percent selected reasons refl ecting the prestige of the organization.

Policy issues

Policy problems are another factor inhibiting better specimen sharing. One frequent biobanking policy is the mandate to keep biospecimens “in house,” i.e., within the university or health system operating the biobank. This policy treats specimens as the institution’s intellectual property instead of the patient’s. From a philosophical perspective, the patient’s biomaterial is at least partily the patient’s IP.

A second policy problem is a failure of some biobanks to actively seek to recover their costs despite the documented concern about their fi nancial sustainability. Biobanks need to understand that charging for the service of providing biospecimens to the research community at large is absolutely fair play and essential to operational and economic sustainability. When biobanks choose not to offer samples to bona fide external researchers, they are disregarding a viable path to sustainability.

Technology is another consideration. According to the survey, over half of biobanks are using primitive ad hoc systems to manage their specimen inventory and data, e.g., spreadsheets or SQL databases. In a Google-driven world, these applications pose challenges for average computer users—including researchers in their own organizations. Nearly three out of four 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) designed for the task, as well as a technology solution for searching for and ordering specimens.


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, researchers could more easily procure biobanked specimens ready for research and specimens from patients willing and able to prospectively provide them. Specimens would 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. The marketplace would embed 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. Samples abound. Researchers need them. The technology to streamline distribution is here. The world did it for book buying, travel planning, romance and so much more. Medicine’s purpose is higher. We can do this.


Read the full article in Laboratory Equipment.