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Researchers can procure specific cancer specimens with the mutations desired for their research.
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Extracting Value from Potential Discards: The Importance of Sequencing Tumor Remnants for Clinical Research

Bulk-sequencing specimen remnants helps advance the development of next-gen diagnostics and personalized treatments

Photo portrait of Tracy Curley
Tracy Curley, MAcc
Photo portrait of Tracy Curley

Tracy Curley, MAcc, is CEO of iSpecimen, an online global marketplace that connects scientists in need of biospecimens for medical research with a network of healthcare specimen providers.

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Published:Mar 19, 2024
|3 min read
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Photo portrait of Tracy Curley

Tracy Curley, MAcc, is CEO of iSpecimen, an online global marketplace that connects scientists in need of biospecimens for medical research with a network of healthcare specimen providers.

A clinical lab receives hundreds, or even thousands, of human biospecimens every day. That is a large number of materials to analyze and remnants to store, sell, or dispose of properly. Sadly, an estimated 3 billion human biospecimens are discarded every year, which equates to a trove of biological data that could have advanced scientific discovery and helped save lives.

Fortunately, there is an emerging model for efficiently using remnant biospecimens: Specific specimens for precision medicine.

Bulk sequencing for clinical research

Specimen distributors aggregate clinics’ remnant samples like cancer biopsy tissue, and partner to genetically sequence them in bulk. The result is a vast catalog of mutation-characterized biospecimens that oncology researchers can order online and put directly to work. Researchers are able to procure specific cancer specimens with the mutations desired for their research.

Such specific samples support precision medicine in an entirely new way. Until now, specific samples have been extremely hard to source. In fact, for decades, researchers have routinely scaled back their work as it was challenging to acquire enough generic samples of the required quality. The challenge is only getting steeper as the demand for precision medicine grows. Imagine how hard it is to procure 50 or 100 samples of lung, colon, or breast cancer with a particular mutation or set of mutations.

Skip the time, labor, and risk

Until recently, the high cost and complexity of screening for specific cancer-causing mutations have limited the availability of sequenced samples for research. Researchers were forced to invest time and money to procure large collections and sequence the samples themselves. Sometimes, they couldn’t find enough of the requested variants. This process is also woefully inefficient, requiring researchers to canvass prospective suppliers and contact each of them to procure the desired samples.

Now, with the new bulk-sequencing practice, researchers can save thousands of dollars and months of effort to find specific specimens with desired mutations. Bulk sequencing yields sets of donor samples with specific variants of interest, some cases with multiple variants of high interest, as well as unique cases that are in high demand. For the first time, researchers can simply turn to web-based catalogs of already-sequenced specimens: A project manager can simply point, click, and procure samples needed for the research and development of treatments and diagnostics in their laboratories.

Suppliers and laboratories can benefit

At the front end of the process, specimens are provided by vetted suppliers (clinical labs, hospitals, biobanks, blood centers, etc.) that possess a large number of specimens valuable for research purposes. Capitalizing on the ensuing high-volume, high-specificity throughput could be a new business opportunity for suppliers, who would otherwise discard these specimens.

The specimen distributors now offer a set of formalin-fixed paraffin-embedded (FFPE) tissue blocks, characterized by mutation and ready to ship as soon as possible.

Join the movement

As innovative programs like bulk-sequencing the specimen remnants progress, prescreened samples will be offered for a broad range of cancer types, including pancreatic, renal, brain, ovarian, gastric, skin, bladder, and prostate cancers. In addition to FFPE tumor tissue, serum, plasma, flash-frozen tissue, viably frozen tissue, and dissociated tumor cells (DTCs) will also be characterized and offered in the future. Programs like these set the stage for researchers to customize future FFPE tissue requests—a capability that could significantly change the cancer research paradigm.

Specimen supplier providers are contributing to the cost of sequencing, making this a win-win situation for both specimen suppliers and research organizations. In this way, the program is truly a collaborative effort to advance precision medicine and scientific discovery.