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With Huge Sample Holdings Awaiting a Green Light, Biobanking Struggles With Birth Pains

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The move toward establishing biobanks offers pharmacogenomics companies a potential goldmine of samples with standardized storage and notation, but implementation is complicated by privacy issues and logistics.

The specimens, some of which date to an era before the Human Genome Project, can be useful to identify biomarkers important in drug discovery, diagnostics, and in finding new uses for existing drugs, said Carolyn Compton, pathologist-in-chief at the McGill University Health Center, in a briefing given as part of the Biobanking Summit in Tarrytown, NY, this week.

For example, Gleevec, originally a leukemia drug, came into broader use when it was found to be effective against gastrointestinal stromal tumors, said Anna Barker, Deputy Director for Advanced Technologies at the US National Cancer Institute, in a talk at the Biobanking Summit.

But much of the United States’ tissue, cell line, and DNA repositories remain not only scattered among the nation’s freezers, but out of reach due to the potentially more invasive nature of molecular technologies, which may not be covered by original patient consent.

Genetic Alliance, a Washington, DC-based confederation of disease-advocacy groups, launched a biobank earlier this month consisting of DNA, cell lines, tissue samples, and clinical records and data to accompany them, said Sharon Terry, the organization’s president and CEO. The bank is set up to enable researchers to perform cross-disease research using samples obtained from among the Alliance’s membership after applying directly to its member organizations.

“The application procedure is the same for all the samples, the sample archiving is the same, the repository is one repository, the [institutional review board] is one IRB — all those kinds of things that often make these sorts of studies difficult because of all the manpower involved,” said Terry.

An ideal situation would have tissue samples stored in exactly the same manner, especially using a method that would ensure integrity on a molecular level. But because of the age of samples and the different methods in use in different disciplines, that is not always the case.

The Genetic Alliance’s tissue samples, for example, are stored and preserved in “a variety of ways,” including formalin-fixed, paraffin-embedded, flash-frozen, and in saline, according to Terry.

Does that present a problem for researchers comparing samples? “No, because you would just take all the frozen, if that’s what you were interested in, or all the paraffin-embedded,” said Terry.

Storage is also a problem common to biobank efforts. “Legacy repositories are a colossal problem because samples are not stored in a consistent manner,” said Carolyn Compton.

The NCI has as many as 300 million samples stored throughout its cancer centers — samples of various quality and without notation standards, according to Compton. Moreover, legacy samples lack consent for molecular research, though original patient consent may have been obtained.

PXE International, a pseudoxanthoma elasticum advocacy group based in Washington, DC, contributes between 50 and 60 tissue samples to the Genetic Alliance biobank, along with “a couple of complete body harvests, and a couple of cell lines,” along with 3,000 DNA samples, said Terry.

Terry estimates the size of PXE’s contribution to be approximately mid-size, but, citing the privacy of each member group, she declined to disclose the total number of samples in the entire bank, or through any of the other organizations.

“Privacy is maintained with the most stringent and rigorous protection,” said Terry. Genetic Alliance member advocacy groups maintain all data associated with the samples (see table, below). The bank issues coded samples to researchers, who can ask for “reconsenting” or more information from advocacy groups, which have contact with patients.

But once biobanks begin to become more commonplace, privacy is no longer going to be an issue, because patients will begin to understand the public good that can come from sharing biological data, said Biobanking Summit attendee Michael Milken, whose non-profit group, Faster Cures, is collaborating with IBM to establish a “biorepository portal proposal” to coordinate sample sharing.

According to Milken, a foundation conducted a study that found 70 percent of people with a disease willing to share medical records. “Privacy is a perceived barrier, but bureaucracy is a real barrier,” said Milken.

— CW

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