Biobanks established by patients
There are many examples, predominantly from the rare disease patient community, of patient stakeholders who have invested their own resources in the establishment of new biobanks and biobank infrastructures. Below are three case studies which capture the levels of involvement and the resulting value to the biobank itself.
Case study 1:
Name of the biobank
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Patients’ Tumor Bank of Hope (PATH Biobank)
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Date established
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2002
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Size
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Approximately 7500 patients have consented to be donors with seven sample source sites across Germany (ongoing)
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Host organisation
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PATH Foundation, Germany
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Country or region
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Germany
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References
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References 47 and 48 below
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Breast cancer survivors established the PATH Biobank in 2002 as a non-profit organisation to collect human tumour and blood samples, together with patient data (and follow-up data) at high ethical standards and under uniform SOPs. PATH [47] aims to involve the breast cancer patients as much as possible in its work through the following strategy:
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1.
The current PATH board consists of three breast cancer survivors, which according to its statutes, at least two members have to be former patients. In addition to the representation (e.g. at conferences and towards scientific partners), the board guides the activities and direction of PATH Biobank. As breast cancer survivors, all board members have an inherent motivation to contribute to the cure of this disease.
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2.
PATH respects the proprietary right of the breast cancer patient. The patient donates their blood and tumour, and in return, PATH reserves one aliquot of both blood serum and tumour tissue, for the donor. The donor may request these samples at any time, free of charge. This way, the breast cancer patient is directly involved in the biobanking process and may benefit from the storage of her biospecimens.
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3.
PATH patients provide their follow-up data. In a follow-up study, PATH patients were re-contacted by telephone. More than 75 % of contacted patients provided data about their disease course and medical treatments. The extraordinarily high response rate reflects the patients’ trust and interest in PATH’s work [48].
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4.
PATH is transparent. PATH publishes the results of studies performed with PATH samples on the PATH website (http://www.path-biobank.org). This way, PATH patients can directly see what PATH samples have achieved. Additionally, PATH biospecimen donors receive a yearly newsletter. The newsletter covers topics like clinical studies, new therapeutics and progresses in research and development. The patients’ feedback indicates that they appreciate the newsletter. Importantly, only 31 % of all PATH patients use the internet as a source of information highlighting the important role of biobanks like PATH in patient information [48].
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5.
PATH consults patients free of charge concerning the handling of their tumour tissue, especially regarding their right to self-determination. In a normal clinical setting, there is no time to discuss the subsequent use of the tumour tissue. Informed patients demand to be included in these decisions. They have right to decide what happens to their tumour. For these reasons, breast cancer patients may call the PATH office and receive support free of charge. The PATH staff consists of a physician and a biologist, thus allowing for competent consultancy regarding all questions associated with the handling of the biomaterial and proprietary rights.
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6.
PATH encourages breast cancer patients to become active and support PATH’s work by volunteering their time. As a non-profit organisation, PATH is always looking for volunteers. This is done via the PATH newsletter, an email-newsletter and patient events.
Case study 2:
Name of the biobank
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Chordoma Foundation Biobank
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Date established
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2012
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Size
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110+ samples (ongoing)
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Host organisation
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Chordoma Foundation
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Country or Region
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North Carolina, USA, with four partner sites/hospitals across the USA
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References
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Reference 49 below
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Chordoma is a rare bone cancer that can occur anywhere along the spine. The Chordoma Foundation was founded in 2007 by Josh Sommer, a then 17-year-old patient, and is a small, volunteer-run patient organisation. The Chordoma Foundation decided in 2010 to establish its own biobank [49] with the aim not only to fund and endorse the biobank but to remain in control and act as the formal “sponsor” of the research arising from the use of the tissue. The biobank is designed, supported and operated by the staff and board of the foundation, with the assistance of a Scientific Advisory Board, and third parties where appropriate (e.g. storage). The foundation operates its biobank under an institutional review board (IRB) approved research protocol.
The patient-led biobank team works closely with hospitals to coordinate chordoma tissue collection from patients, providing the first centralized source of chordoma samples and data to the research community. The foundation also developed a standardized kit to make it easy for any hospital to provide tissue samples, thus ensuring the quality of sample collection and preservation during transport.
As the condition is very rare, and the tissue so scarce, the foundation has made specific efforts to liaise closely with hospitals to collect any chordoma tissue remaining from surgical procedures that is not needed for patient care. The foundation has also set up partnership networks with hospitals that are centres of excellence for the treatment of chordoma patients to routinely collect chordoma tissue. Expanding the biobank network to Europe and exploring “virtual” biobank solutions (where specimens are administered centrally but stored locally) are currently being investigated. A major goal for the near future is to acquire more frozen samples suitable for genetic research.
Volunteers and patients are also involved in promoting the biobank to the public through the foundation’s online (social media, website) and offline (face-to-face meetings, mailings, brochures) tools and channels. Because the patient organisation is in the driver’s seat, chordoma patients are very easily convinced about the necessity of tissue donation. This has all been achieved with the support of chordoma patients and their families, acting as volunteers, and a small staff (<5). The Foundation board consists of patients or relatives of patients, in the majority. The message from the Chordoma Foundation is that patient/volunteer-led biobanking can be performed very effectively, even by very small organisations, and may be the only solution for some rare diseases.
Case study 3:
Name of the biobank
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I.B.AHC—Italian Biobank for Alternating Hemiplegia of Childhood
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Date established
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October 2004
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Size
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48 patients (ongoing)
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Host organisation
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Scientific Institute IRCCS “E. Medea”
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Country or region
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Bosisio Parini (LC)—Italy
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References
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Reference 50 below
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Alternating Hemiplegia of Childhood (AHC) is a very rare, progressive and debilitating neurological disease, characterized by an early onset. The Italian Association for Alternating Hemiplegia of Childhood (AISEA) is actively involved in their Italian Biobank AHC (I.B.AHC), an open repository by which the clinical information and the biological material of AHC patients with a validated diagnosis are collected and made usable for any research project on AHC [50]. The I.B.AHC Biobank and associated clinical registry are fully integrated and have been funded and coordinated by the patient association since 2004, in association with its scientific committee.
I.B.AHC is composed of two linked repositories—a clinical registry of patient data and a biobank of DNA samples from participating patients. AISEA defined both the biobank and registry protocols together with its scientific committee and with the ethics committee of the scientific institute hosting the biobank (MEDEA, Italy). The informed consent forms for patients and the Material and Data Transfer Agreement (MDTA) for the researchers applying for access were also defined by the patient organisation in collaboration with the MEDEA Ethics Committee.
AISEA has a primary responsibility for the recruitment of AHC patients and plays a vital role in active communication with patients, particularly about the process of sample/data collection, as well as information on the communication of individual results obtained by the research projects that used their sample/data. According to conditions stated in the MDTA, AISEA enters the individual results of the research projects accessing I.B.AHC into the clinical registry, so that they can be seen and used by any other future study accessing I.B.AHC. In this way, the patients, by donating their data and samples to I.B.AHC, obtain the maximum return of their investment for the progress of research on AHC. AISEA also communicates the individual results of the studies accessing I.B.AHC to the patients and to their treating physicians.
The I.B.AHC was the largest case series included in an international collaborative research project that in July 2012 identified mutations in the ATP1A3 gene as the major cause for AHC. The I.B.AHC organisational and information model, in compliance with the model developed by ENRAH, the European Network for the Research on AHC, is now being used to create an international network of homogeneous clinical registries with linked biobanks as a supporting infrastructure for the International Consortium for the Research on AHC (IAHCRC). In this initiative, the AISEA together with other national patient associations for AHC are playing an essential role in its governance, not only for guaranteeing the sustainability of this infrastructure and the recruitment of the patients but also for the definition of rules for sharing of the data and samples inside IAHCRC.
Patient involvement as part of biobank governance
Biobanks are increasingly incorporating patient involvement as an important part of their governance structures. Three case studies are presented below.
Case study 4:
Name of the biobank
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Wales Cancer Bank
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Date established
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2004
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Size
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Currently 12,000 patients (ongoing)
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Host organisation
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Cardiff University
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Country or region
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Wales, UK
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References
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Reference 51 below
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The Wales Cancer Bank (WCB) is funded by the Welsh Government and Cancer Research Wales and is hosted by Cardiff University [51]. Patient involvement has been key to the development of the WCB since its inception and the insight given by the lay members complements and augments the expertise of the professionals involved in managing and advising the project.
A steering group was convened when the biobank was founded to ensure all relevant stakeholders were able to input into the formation and initiation of the WCB. Of the 38 steering group members, four were “lay members” recruited either through personal contact or via the local patient support groups and/or networks. Three lay members were patients, and one was a caregiver for a cancer patient. These four lay members went on to form the core of the patient and ethics committee, which drafted the ethics application, the patient information sheet and consent form and advised on the proposed patient pathways. They were instrumental in keeping the discussions grounded, ensuring the language and content of the patient documentation was suitable and giving invaluable advice regarding the timing and method of consent.
The patient and ethics committee was later reconfigured and revitalised to become the Lay Liaison and Ethics group (LLEG). The group expanded its lay membership further to include a public relations expert, a fundraising expert and additional patients. Mr. Neil Formstone, who was one of the original three patients involved in the steering group and who remained heavily involved as a committed patient advocate until his death in December 2012, initially chaired the new group. The Chair of the LLEG committee is a full member of the WCB Executive group, which is the central pillar of the governance structure responsible for the operational decisions. The Executive group reports to an overarching Advisory Board with a remit to oversee the progression and future strategy of the WCB. The lay voice is, therefore, an integral part of the Executive group and is also heard at Advisory Board meetings where the Executive group is in attendance. The Chair of the Advisory Board is also currently a lay member.
The Lay Liaison and Ethics group has expanded further with three new patient members and has concentrated on raising the profile of the biobank through their interactions with patient groups, hospital groups and other organisations, such as Rotary. The members regularly review the communication strategy and are the first port of call for WCB to explore any proposed new processes. The value WCB places on the views and advice of the members of the LLEG committee was recently demonstrated when two suggested new procedures were first presented to the group prior to higher level discussion at the Advisory Board. Electronic consenting and volunteer consenting were both (individually) submitted to the group and only with their support have both schemes been progressed further for more detailed investigation and potential implementation.
A sub-committee of members of the Lay Liaison and Ethics group has started to review the lay summaries on the applications that the WCB receives for samples to ensure that they are understandable to a general audience. Researchers will not receive samples until the reviewing LLEG member is satisfied that the content and structure of the lay summary describes the proposed research in terminology suitable for a lay audience. These summaries are uploaded onto the WCB website and feature in the annual report to publicise the projects supported by the collection.
Case study 5:
Name of the biobank
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The Mayo Clinic Biobank
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Date established
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2009
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Size
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The target goal is to obtain 50,000 biospecimens (ongoing)
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Host organisation
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Mayo Clinic, Rochester
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Country or region
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Minnesota, USA
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References
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Reference 52 below
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Following a deliberate community engagement event in September 2007, patient and public participants created recommendations for the design of the Mayo Clinic Biobank [52]. The hopes and values expressed guided Mayo Clinic’s development of the biobank, particularly its procedures and practices to protect the individuals donating to the biobank. One recommendation voiced by the participants was the need for ongoing community guidance and involvement in biobank governance. Therefore, Mayo Clinic established a Community Advisory Board (CAB) to ensure that the voice of the community continues to be heard. The Mayo Clinic Biobank CAB is composed of approximately 20 members chosen to reflect the diversity of community interests and backgrounds, several of whom participated in the Biobank’s deliberative community engagement event. The CAB provides community input to the biobank leadership about current and future plans for maintenance and growth. Whilst the recommendations provided by the CAB members to the leadership are not binding, they are viewed with considerable respect and are often incorporated into policies, actions and decisions that leadership make. The CAB is co-chaired by a community member (elected by CAB members) and a member of the Mayo Clinic Biomedical Ethics Program. The co-chairs work with Biobank staff to set meeting agendas and facilitate CAB meetings. Both co-chairs are also active voting members of the Biospecimen Trust Oversight Group and Biobank Access Committee. A community vice chair (elected by CAB members) is also part of CAB leadership and helps with co-chair responsibilities. In 2008, CAB members met with Mayo Clinic Biobank staff members to assist in creating the Biobank’s informed consent procedures and review recruitment materials and methods. Many of the improvements and suggestions generated by the CAB were adopted by the Mayo Clinic Biobank before it began operations in April 2009. Since then, the Biospecimen Trust Oversight Group has asked the CAB to review and recommend policies and procedures on issues arising in Biobank research, such as return of research results, data sharing with other researchers, procedures used to recruit Biobank donors and many other topics. The CAB meets every other month to learn about, discuss and develop recommendations to help guide the Biobank leadership.
Case study 6:
Name of the biobank
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Nottingham Health Science Biobank
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Date established
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January 2011
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Size
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The aim is to consent every patient at the time of first presentation at our hospital and those referred for surgery and treatment after diagnosis (ongoing)
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Host organisation
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Nottingham University NHS Hospitals Trust
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Country or region
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Nottingham, UK
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References
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Reference 53 below
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The Nottingham Health Science Biobank (NHSB) has pioneered an innovative model of patient-led consent which is being piloted and developed with the help of the Biobank PPI Advisory Group, comprising volunteer patients, carers and the public [53]. In this model, patients themselves lead the consent process for biobanking. Many of the patient volunteers have experience of the diseases the NHSB is researching. A key innovation of this model is helping to build lasting relationships with an important stakeholder that biobanks often neglect—the patient donors of the tissue samples.
Nottingham University Hospitals have 1500 PPI members on their database. To engage the volunteers, an expression of interest was sent to 200 PPI members outlining what the NHSB did, why it was set up and the activities that would be requested for PPI members to become involved in. These activities included the design development and delivery of innovative, effective and user-friendly consenting processes to encourage improved donation activity, delivery of easy-to-understand information for patients and the public, and provision of greater opportunities to share biobank-related news with patients and the public via various media sources on a local, regional and national level. As part of the process, a comprehensive job description was created including the nature of the role for a person consenting, time commitment, support and reporting, confidentiality, probationary period and length of membership. A comprehensive “person specification” also outlined the essential and desirable skills for experience, special attributes and communication skills. From this process, 25 people who were interested in the NHSBs’ activities were identified and invited to a face-to-face meeting. After further consultation with the PPI advocates, nine wished to take part in the consent process for the NHSB. PPI members who wished to take part:
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received full mandatory training and induction by the Hospital Trust
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were given an Honorary Trust contract
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had to sign a confidentiality agreement
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were required to have a Criminal Records Bureau (CRB) check and engage with the Independent Safeguarding Authority (ISA) to carry out the Disclosure and Barring Service (DBS)
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were provided with Hospital badges
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were given free car parking permits
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were reimbursed for travel expenses
In addition, the NHSB also produced a comprehensive consent training package which included:
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a presentation followed by role plays
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hand-holding in the clinic for a minimum of six clinics. This aspect of the training was tailored to the individual and no time limits were set
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shadowing and review
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direct observation and final competency sign offs
Each advocate was also provided with one-to-one training and taken through the full life cycle of biobanking. As part of their ongoing professional development, the PPI advocates are also offered annual appraisals. NHSB have now recruited five PPI Advocates, all of whom have had breast cancer or are the partners of people with a history of breast cancer, to lead the process of consent in this specialist area. Since August 2012, the PPI advocates have been responsible for consenting in five out-patient breast clinics. The new role has had excellent feedback from both patient and the advocates and has led to increases in the rates of consent.
The use of PPI advocates to take consent is cost-effective and embeds the patient perspective at the core of the biobanking process. According to NHSB, this is the first description of a novel and broadly applicable approach to consent for biobanking. In addition, the current PPI advocates have expressed an enthusiasm to be involved in training of future biobank volunteers. The NHSB continues to promote PPI and patient and public engagement (PPE) through regular group meetings, open days and speciality targeted workshops.