Abstract
The availability of biological samples has assumed a crucial role in the field of biomedical research in order to assess predisposition to complex diseases, identification and validation of new diagnostic biomarkers, drug targets, and improvement of monitoring strategies. To ensure correct collection, storage, and use of biological material, a biobank requires standard operating procedures, not only to guarantee the integrity of the sample, but also for the traceability and uniqueness of the same sample and to avoid potential contamination. Over the past three decades, researchers have increasingly used DNA polymorphisms for biological identification purposes, radically changing forensic investigations. This revolution has led to the birth of new scientific terms, such as “DNA fingerprinting” or “genetic profiling”, and a new field of legal medicine known as “forensic genetics”. Given the significant need for a biobank to devise a system of identification, authentication, and traceability of biological samples, many researchers are applying forensic genetics-based methodologies to the science of biobanking. This review recapitulates the main DNA polymorphisms presently known and the techniques most widely used for biological identification purposes, from standard methods based on short tandem repeats, to use of single nucleotide polymorphisms, through to the more recent insertion/deletion polymorphisms. The experience of several research groups who have applied classical or innovative methods for identification of biological samples in the context of a biorepository is also discussed. Finally, some technical issues are suggested that could facilitate decisions about the most appropriate markers and DNA fingerprint methodology for evaluation of identity and traceability in each disease-based biobank.