Biobanks have become an essential tool for advances in genomics
and biotechnology. Access to large
specimen collections with associated patient genotypic and phenotypic data is
especially important to biomarker discovery for cancers and genetic diseases. There are numerous biobanks in existence, but no
internationally-accepted governance process is currently available to
standardize the many ethical, legal and social implications (ELSI). Some of these issues include ensuring high
quality samples and data, appropriate
patient consent, secure de-identification & storage of patient data and
standardized practices for patient phenotype characterization. Harmonization of biobanking operational
procedures and policies is key to the ability to share specimens and associated
data (1).
Patient Privacy and
Consent Issues
While there is general consensus on the need to address
the issue of patient privacy, there is a general lack of consensus on
implementation. The “broad consent”
model has been adopted by many biobanks in an attempt to solve the problem of
making samples available for multiple projects. However, some experts argue these are not
really informed consents since aims of future projects cannot be specified
(2). Broad consents leave patients
vulnerable to loss of control over their biological samples and so may result
in decreased donor participation. A
“dynamic consent” model has been proposed which would allow donors to extend or
revoke consent for new projects via a web-based system (2).
Ownership of samples is a hotly debated issue with the
most well-known examples being the cases of Henrietta Lacks and John
Moore. In the US, the debate has
centered on whether donated samples can be viewed as property (3).
Ursin et al. (4)
provide an enlightening glimpse of how study patients perceive privacy and
consent. Their focus group results
revealed that patients are primarily concerned with self-determination (control),
harm, respect, freedom, confidentiality and discretion. The most interesting insight was that patients
view consent as the expectation that their sample will be treated with respect.
Securing
Data-Linked Sample Information
The ability of biobanks to share patient data between
multiple studies requires absolute assurance that sensitive patient information
is protected. This includes secure de-identification methods as well as secure
storage of genotypic and associated phenotypic data. Tracker detection, anonymization of data sets
and statistical blurring of query results are proposed technical strategies for
preserving donor anonymity while allowing access to biobank information systems
(5).
Progress in Global
Biobanking Harmonization
Progress towards the goal of harmonization has been
accelerated in Europe by initiatives funded by the European Commission. These harmonization projects include
Promoting Harmonization of Epidemiological Biobanks in Europe (PHOEBE), Biobank
Standardisation and Harmonization for Research Excellence in the European Union
(BioSHaRE-EU) and the International Society for Biological and Environmental
Repositories (ISBER). The BBMRI
(Biobanking and Biomolecular Resources Research Infrastructure) consortium was
formed to improve accessibility and interoperability of existing European
biobank collections. This consortium
consists of 54 members with 225 associated organizations (mostly biobanks) from
over 30 countries (http://bbmri-eric.eu/). The preparatory phase of BBMRI is complete
and implementation under the European Research Infrastructure Consortium (ERIC)
is scheduled to begin in 2014. Harris et al. (6) provide a comprehensive
review of biobanking infrastructure, bridging and harmonization efforts in
Europe. Numerous other international
organizations and initiatives are already in place to aid in the development of
global biobank harmonization (1).
Although global harmonization of biobanking remains a daunting task,
recent progress made by international organizations and initiatives suggest
this ambitious goal is attainable.
