09 Sep 2019
Session Block—Privacy Engineering 12:20 - 12:40

The Informatics of Biospecimens 

When you are sick, to determine what is wrong with you, a doctor will likely require you to give up a piece of your body (eg tissue biopsy, blood sample), some secretions (eg saliva, cervical swab) or some of its excretions (eg urine, faeces). They do this as these 'biospecimens' are central to their understanding of human biology and the diseases we encounter. At its core 'biospecimens' contain the information that doctors and researchers use to understand what type of disease a patient has and to determine the possible treatment options that should be used for their clinical management. Through advances in biotechnology information in the biospecimen is now readily and routinely extracted leading to vast amounts of digital data being captured in machine readable forms. This 'datafication' of biospecimens generates different types of 'omic' data (genomics, transcriptomics, proteomics, metabolomics, epigenomics) reflecting the molecular events ongoing in the disease. Or it may be information drawn from the medical and microscopic image analyses of the appearance of tissue samples. When building a framework for personalised treatment of disease, the complexity of the biospecimen derived must be captured in meaningful and actionable ways. As the impacts of the use of digital information to the healthcare system have been emerging, personalised medicine will be directed by computational scientists and data analysts active in the biomedical domains. In doing so, tissue based science is now an informatics problem. 


The Problem of Centralising Biospecimens 

Within biomedical research, centralisation of its core activities into aggregated facilities or 'repositories' such as nodes, databases, or registries is a well-entrenched practice. Current tissue handling practices seek to aggregate biospecimens into giant freezers that are linked to databases of annotated clinical and 'omic' data, registries of patient information and research project ethical consent. Over the past 20 years aggregation of biospecimens into biobanks have emerged and is anticipated to become an industry worth US$2.7 billion in the US by 2022. Biobankers operate their repositories as largely autonomous self-governed entities that obtain their biospecimens through arrangements with or within pathology services or directly from surgery. Whilst the narrative around strategic planning recognises that 'biobanks are crucial for medical research' a bevy of reports highlight how low biobank utilization fuels unsustainable biobank models. Despite grand plans to aggregate biospecimens into large centralised facilities has not realised their potential. The reason for this is multifaceted and influenced by the following issues: parochialism in research, biohoarding of specimens without release to researchers (5), capacity issues; poor business models, separation of biospecimen from the patient record and disengagement of research from the healthcare environment. Centralised biobanking suffers from other disadvantages known to plague centralisation models. Specifically biospecimen aggregation creates single points of failure within the system which require excessive protections and constant vigilance to maintain security. Centralised storage of biospecimen without clear motivations for their successful use leads to legacy collections that have no purpose, leaving unused biospecimen-derived information, creating noise and raising the question of relevance. Finally, centralisation removes the biospecimens from their source which is ultimately the patient, leading to their loss of engagement, with the decision making process reverting to an independent 'authority' who determines access rights, requiring donors to have unconditional trust in biobank practices and motives. In summary, aggregation of biospecimens into central facilities cacoons the information they hold into systems that are controlled by a limited few who can censor the message the biospecimens hold thus dictate the research narrative whilst restricting open discovery and exploration by many others. 


The Decentralisation of Biospecimens Using Blockchain 

Bold and innovative strategies are needed for biospecimen derive informatics to flourish and impact digital health initiatives. Shifting to aggregative biobanking to a model that manages biospecimens as an integral part of a digital health information flow will revolutionize how we learn from biospecimen-derived information. Distributed models rely on the presence of many independent participants that manage processes together through common standards performed in parallel. For distributed models to work, all components required for the system must be decentralised, including consent practices, ethics and governance oversight, patient engagement, biospecimen transfer logistics, datafication processes, quality management, research results dissemination and even clinical decision making. Decentralised environments see processes distributed away from a central authoritative organisation or group, with decision making falling to a cooperative of people with different perspectives, leading to greater objectivity. We envisage biobanks would benefit from blockchain technology. Blockchain as an incorruptible shared digital ledger of allows for the distributed, secure, transparent and robust transactions by tracking the secure, ethical transfer of biospecimens to researchers. This blockchain implementation was created to build trustworthy decentralized applications that run with no downtime, censorship, fraud or third-party interference which is ideal in the context of exploring human tissue within the research context. Use of smart contracts has been identified as enabling the management for human subject regulation allowing Human Research Ethics Committees and governance bodies to comprehensively, transparently, securely and automatically administer the requirements for research integrity whilst avoid repetitive intervention between participants. Blockchain is now being used to personalise biospecimen collection and distribution allowing donors to determine how their specimens will used in research. Blockchain technology enables ways of synchronizing data between participants within a system that is not influenced by suspicion. If tissue based science is an informatics problem, then biospecimens could be the first block in the chain of information flow. 


Speakers
Genobank
CEO

Discussions


Discussion not started yet.