On 27 October 2021, NWO announced the results of the first round of the Open Science Fund, a funding instrument to stimulate and reward open science. In total 26 projects were awarded, including one project at the UG and one at the UMCG. 

We spoke to Dr. Imke Christiaans (UMCG) - one of the project’s co-applicants - about their NWO-funded project Umbrella HEART NL and how it will contribute to stimulating the re-use of data to improve cardio genetic patient care.

Project title: Umbrella HEART NL (Umbrella HEreditary heARt disease daTabase of the Netherlands)

Main applicant: Prof. dr. M.A. Swertz (UMCG) 

Abstract: 

Early recognition and treatment of inherited cardiac conditions, both of patients and of symptom free relatives, can save lives. To enable successful prevention and treatment, genetic data and long-term clinical outcomes of large patient groups need to be studied. However, currently in the Netherlands, this data is spread over many different hospitals and registries and not automatically extracted from patient records. We aim at developing a national database that automatically extracts data and acts as an umbrella resource for existing data(bases) used in research and diagnostics to stimulate combination and re-use of data to improve cardio genetic patient care.

Can you expand on why this database is needed?

Genetic heart diseases are quite rare and often have very variable courses. Some people who carry a certain gene mutation might develop a severe form of the disease at a young age, while others might not show any severe symptoms throughout adulthood or old age. Many of the studies that we do in this area are aimed at assessing disease risk so that we can personalize treatment and determine the right frequency of cardiac evaluations. Therefore, having access to a large pool of patient data helps us to better assess risk and provide targeted therapies. At the moment we often have to retrieve data manually from hospital patient records; our goal is for clinicians to be able to access the metadata and the data in a straightforward and automated way.

What is the goal of this 1-year project?

The ambition of this NWO-funded project is to do a stocktaking of what kind of data is available, how and where it is stored and how this data can be retrieved automatically. The project will be a sort of pilot. Our initial goal is to demonstrate that creating a database able to communicate with various disease registries and electronic health records is possible. What we want to achieve is to make disease registries and electronic patient records at hospitals interoperable with our database so that we can extract patient data automatically and combine data for research purposes. In the Netherlands there are several electronic patient record systems, so the challenge is to show that we can make these systems communicate with each other and exchange data. 

In the longer run we would like to scale this up to a national and also international level; for instance, to be able to communicate also with international registries, like for the European Reference Networks for rare diseases.

How will you ensure the protection of sensitive patient data? 

Our intention is not to make the data accessible to the general public, but only to researchers that request access to it. The database will store the metadata, which provides information about what type of data is available, which variables are there (e.g. whether biomaterial from the patient is available or not) and what kind of consent the patient has given for the re-use of the data. The data itself will be stored by hospitals and it will be possible to automatically retrieve it upon request.

Can you describe the project team? 

One of the key goals of this project is to combine clinical and bioinformatics expertise. That’s why the project team consists of three clinicians from clinical genetics and cardiology, one laboratory genetics specialist and a bioinformatician:  

• Prof. Dr. Morris Swertz (Head of the Genomics Coordination Center and Professor of Bioinformatics, UMCG).
• Dr. Imke Christiaans (Clinical Geneticist, UMCG)
• Dr. Annette Baas (Clinical Geneticist, Utrecht UMC)
• Dr. Marielle van Gijn (Clinical Molecular Geneticist at the Department of Genetics, UMCG)
• Dr. Michelle Michels (Cardiologist, Erasmus MC)

Since we aim at a national database in the long term, we have already broadened our team and informed the cardiogenetics community in the Netherlands, both clinicians and researchers, about our project.