'Bridging the Gap between Researchers and Research Infrastructures'

Change is Coming

Traditional RIs offer access to a large service, usually around an instrument. Historically, infrastructures are to get researchers the tools they need. Changes in the research policy landscape, for example the development of the European Health Data Space (EHDS), EOSC, and the push towards Open Science, have caused the role of RIs to change. Nowadays, they often take the role of helping scientists explore the European research landscape and showing the tools and infrastructures available to them.

Niklas Blomberg, Director of ELIXIR, Coordinator of EOSC-Life, and keynote speaker on the first day, gave an example. "Policy makers want to make sure that public money on research is spent wisely", he told the audience, "but to also deal with the reproducibility crisis. It is worrying for funders that a large part of research is not reproducible. How can individual scientists be helped with these policy requirements from funders?"

ELIXIR and other RIs have translated this need into a set of tools to help researchers. But these tools can be either overwhelming – where to start? – or underwhelming, e.g. too generic. Blomberg explained:

In the UK, for example, there is an initiative of FAIR data stewards across science disciplines, to guide researchers into making their data findable, accessible, interoperable, and reusable by design.

Community-driven Effort

A speaker in the FAIR data management & implementation theme, Munazah Andrabi from the UK-branch of ELIXIR, is Co-Lead of this data stewardship community and Co-Editor of the Research Data Management (RDM) toolkit, promoting researchers to generate their data FAIR by design. She addressed the challenge of funding for the RDM toolkit coming to an end, something that many of these tools are facing at some point.

Three Tips for Data Stewardship

Mijke Jetten, Community Manager of data stewardship at Health-RI and ELIXIR-NL in The Netherlands, shared her optimism of the growing number of data stewardship communities, exchanging best practices and information. "They were organised from the life sciences in 2017, but have grown broader now", she said.

Mijke shares three tips with us:

1.     Engage with your audience.

2.     Take along the perspective of the organisation as well.

3.     Make sure you have a community manager on board.

Long-term Funding Needed

Steve Canham, Data and IT Consultant at the European Clinical Research Infrastructure Network (ECRIN), showed the audience a glimpse of the Clinical Research Metadata Repository (MDR). This tool tries to address the problem of finding and getting access to clinical trial data resources.

With this very ambitious goal, and being not the only initiative exploring this issue, Steve was very open in sharing the many challenges his team face, including messy data, poor access to high-quality IT staff, and long-term funding issues. Currently, the MDR is in beta, but already has access to over 800.000 studies from various sources, including YODA and PubMed. Steve explained:

Visions of Personalised Treatment for Rare Diseases

Second-day keynote lecturer Prof. Peter-Bram ‘t Hoen, Chair of Bioinformatics from the Radboudumc in The Netherlands, painted a very practical picture of current health data challenges by sharing his experiences with FAIR patient registries and omics data for modelling disease trajectories.

He focuses on Myotonic Dystrophy Type 1 (MDT1), a rare multisystemic disease affecting the muscles and other body systems. Due to the heterogeneous nature and rarity of the disease, reliable prediction with robust outcome measures is key for meaningful high-quality clinical trial design.

Peter-Bram used machine learning to predict which patients in the OPTIMISTIC clinical trial cohort would benefit from a new therapy on which outcomes were measured. Many clinical and molecular parameters were tested and evaluated; new leads are being followed-up on.

His take-home message was that for rare diseases even more so than for common diseases, it is key to be able to cross-reference high-quality clinical and molecular data, in accessible databases and biobanks across Europe. He is therefore a strong supporter of making data FAIR at the source and accessible through federated systems.

In the vision of the European Joint Programme on Rare Diseases (EJP RD), all rare disease patients in Europe are registered in FAIR registries. Peter-Bram's personal vision goes even further, striving for personalised treatment for rare diseases like MDT1 through prediction of response to treatment.

ELSI: Getting the Questions Clear

On the topic of sensitive data sharing, Michaela Th. Mayrhofer, Head of ELSI Services and Research at BBMRI-ERIC, talked about the service that provides expert support in ethical, legal, and societal issues that arise in life sciences research. She told her audience in Utrecht the matter of ethics is more complex than many researchers realise, so it needs a team with diverse expertise and experience to aid on the matter of ELSI.

She also addressed the fact that everyone agrees ethics are very important, but its incorporation in projects is often overlooked or lacks proper funding. Also, availability and accessibility are often lacking, which Mayrhofer’s team tries to solve by building an ELSI knowledge base, developing tools and practical guidelines.

Currently, the BBMRI ELSI team participates in 23 different projects, that has led to extensive publications. However, "the interesting part is the translation in practice," Mayrhofer says. To accommodate this, there is a BBMRI helpdesk dealing with questions on a case-by-case basis.

She uses the 3:1 ratio, translating to three hours for finding out the question and one hour to answer it.

Patient Engagement: Doing it Right

More tools and practical guidelines were presented by Florence Bietrix from the Patient Engagement Resource Centre (PERC) at EATRIS. "Patient engagement is a lot more than just being part of a clinical trial," she argued. "It can start in the preclinical phase by asking for patient opinions and views on anticipated or performed research." From bed to bench side and back: there are many actors involved that relate to patient engagement.

Why patient engagement is so important in medical and life sciences research, can be summarised in five points:

1.     It brings the subject at the heart of the process.

2.     It brings trust.

3.     It brings quality and relevance.

4.     It forces researchers to communicate in laymen’s terms.

5.     It is externally motivated by funders.

Bietrix warns it is important that patient engagement efforts should not just be window dressing, something she too often sees in how it is perceived or implemented by researchers.

Like with ELSI issues, availability of and access to useful tools and knowledge is a challenge. Therefore, EATRIS and partners developed the PERC as a central resource of available knowledge and expertise to help researchers to get started, understand the concept, and guide them to information. The PERC is a work in process: you can contribute by submitting a resource or story, Bietrix says. Her concluding remark: