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On biobanking: Deposits and withdrawals
In the last several months, ddn has featured several articles on the topic of biobanking. Academic bioanalytical colleagues have been complaining for years about the difficulty of obtaining well-characterized samples in sufficient numbers to search for biomarkers. Others wish to validate a few that looked promising in preliminary, underpowered animal or clinical studies.
Many putative biomarkers have been reported for small numbers of subjects, often in late stages of disease. The sizes reported are typically large, because without that, there would be no publication. In those cases where larger follow-on studies have been done, the results have tended to be disappointing.
What at first seems superficially simple is, in fact, necessarily complicated and costly. After all, who among us realizes the potential economic value of urination, an activity I perform more frequently with age? To increase the value, I'd have to sign an informed consent, record the time of day, note any prescriptions I've dosed and make some notes on meals, weight, the last time I had sex and any diseases encountered by my parents and siblings. Then I'd have to freeze it. A mundane task now starts to sound like work. Can I sell an aliquot to recover my costs? I don't have time.
There clearly is a need for archives of disease-associated human biological materials as distinct from more traditional collections such as the American Type Culture Collection with its broader mission. There are many pre- omics collections such as the Armed Forces Institute of Pathology (AFIP), which has archived 55 million traditional glass slides as well as huge numbers of paraffin blocks and wet-tissue samples. The AFIP is scheduled to close and the disposition of those samples is unclear. The value of sample archives has long been recognized, even before butterflies were first mounted on pins.
The terms biobank and biorepository today are used interchangeably. An industry has developed to fill the growing need for freezers, cold rooms, software, barcode labels, sample transport technology and robotic means to pick specific samples from the deep freeze. Other firms serve as librarians or sample warehouses and have put in place backup electrical systems and elaborate means for sample tracking. They keep records of what you deposited and charge you rent for as long as you wish. Pharmaceutical firms often archive samples from specific clinical trials in the event they'd want to reexamine them at a later date. Most, however, are destroyed without further scrutiny.
In some recent cases, there is evidence of sharing among pharma in the "open innovation" sense, where all could benefit from tracking markers in a larger pool of test subjects. There also are a number of public or nonprofit biobanks, such as the National Cancer Institute, which provide a useful service to help investigators find relevant samples via their Office of Biorepositories and Biospecimen Research.
Another is the Rutgers University Cell and DNA Repository, a very impressive archive that defines its mission as playing "a key role in research aimed at understanding the genetic causes of common, complex diseases." BioServe defines part of its mission as providing "academic and industry researchers with access to over 600,000 human DNA, tissue and serum samples linked to detailed clinical and demographic data from 120,000 consented and anonymized patients on four continents." The Veterans Administration (VA) this year announced the Million Veteran Program, proposing to link its large database of health information with blood samples collected from volunteers over the next five to seven years.
The focus here appears to be purely on genomics, and no other disease associations are to be monitored in those archived samples. This dramatically simplifies things by removing concerns about diet/fasting or worry about diurnal variations or unstable analytes. Given the size of the VA hospital system and the huge number of subjects, there should be greater power to see relatively rare, but important, genetic predispositions for phenotypes where organized sample collections can be challenging to obtain. The samples and medical records for this project will be anonymized, a crime against humanity, but not against samples.
There also are smaller and far more focused organizations. One of these off to a good start is the INbank here in Indiana, an initiative of the Fairbanks Institute for Healthy Communities. INbank is especially focused on longitudinal studies, following the same participating individuals over time as their disease progresses with age. It currently has two studies in progress, focused on coronary artery disease and type 2 diabetes. For each cohort, there are carefully matched controls. Electronic medical records for each participant enable queries on more than 8,000 variables that can be matched to the collected specimens. Given that longitudinal changes of biomarkers within a subject are far more likely to be interesting for personalized medicine than averages among subjects, this approach affords new opportunities. No doubt, its value will increase with time over many years.
It is encouraging to see the challenge of well- documented samples being met using electronic medical records to make queries more feasible and less costly. Nevertheless, covering the cost of all this is not trivial, and it changes the value proposition for the aliquot of body fluid samples we will be feeding to our DNA arrays, mass spectrometers and high-field NMRs. Will actionable markers be found in the earliest stages of degenerative diseases such as cancer and Alzheimer's? Not necessarily, but let the chemistry talk. Much more will be known over the next decade. Happy holidays.