Biobanking from the patient perspective

Towards a patient-centred approach to healthcare—role of biobanking

Directly involving patients and the public in shaping both the organisation and delivery of healthcare services is central to current health reform agendas around the world. Realigning public services based on evidence from service user’s experiences, and designed with and by the public rather than on their behalf, is challenging national healthcare systems, with particular examples emerging in the USA and UK [5, 6]. It is becoming clear that different types of involvement exist and approaches to involvement are different in those countries that adopt either a “rights-based” or a “regulatory” approach to healthcare [7].

Developing in parallel to patient-centred healthcare is the concept of personalised medicine [8]. In order to serve the needs of personalised medicine, biobanks and biobanking research will play an increasingly important role in healthcare research and delivery. It is predicted that the integration of biobanking at all levels of disease-specific, epidemiological and applied biomedical research and healthcare will increase progress into health research and decrease costs of both clinical trials and daily healthcare [9]. Treating patients and patient organisations as full partners in this process is key in moving towards a patient-centred care model, thus building the foundation for patients to take responsibility for managing their care and overall health [10].

Evolution of patient involvement in research

Most health research would be impossible without the active involvement of patients. Traditionally, patients have been involved “passively” as subjects/participants in research, with patients and their representative organisations only rarely seen as partners in research practices. However, the last 20 years has seen a growing interest and activity at a local, national and international level in patient engagement and in particular a focused interest in patient and public involvement (PPI) in research, with projects in the European Union [11, 12], Australia [13], Canada [14], UK [15] and other countries, focusing on different aspects of PPI.

Patient involvement in biobanking activities

For most patients and patient organisations, the primary objective for their involvement in biobanking activities is to find the cause of their disease or to improve their diagnosis and treatment options [23]. The degree of involvement can range from promoting the existence of a biobank to governing an entire biobank. When looked at over the last 20 years, this range of involvement has evolved through a number of important, overlapping phases:

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.

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.

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.

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.

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.

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.

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.