22 November 2018

The collection and interpretation of genetic data have not been fully standardized. This means that patients cannot optimally benefit from the wealth of genetic data available for diagnosis and personalization of treatment. ZonMw granted an ambitious project to promote large scale (re)use of all human genomic data in research and healthcare by implementing the FAIR principles for genomics data, i.e. to improve Findability, Accessibility, Interoperability, and Reusability of genetic data.

The project will consider the needs of different stakeholders (including patient/ participant, laboratory staff, clinicians, bioinformaticians, researchers) and address ethical, legal and societal issues. The project is directed by prof. Morris Swertz and dr.ir. Salome Scholtens from the University Medical Center Groningen, with involvement of Radboudumc’s Center for Molecular and Biomolecular Informatics (CMBI), Department of Human Genetics, and the Radboud Technology Center Data Stewardship.

Peter-Bram ’t Hoen, theme Nanomedicine, further explains that the project will deliver standard operating procedures and best practices for the capture of genetic data, metadata (data about the data, such as the sequencing and analysis protocols) and provenance (who produced the data and what are the conditions under which the data may be (re)used). He further stresses that the “A” in FAIR does not stand for “freely accessible to anyone”. The conditions under which the data will be made available for reuse will need to guarantee the privacy of patients and have to be in line with the General Data Protection Regulation (GDPR). In the project, Radboudumc will be mainly concentrating on harmonization and removal of ambiguity of the data. The meaning of the data should be clear for researchers, clinicians or even computers, irrespective of the center where the data were generated. 

The project was funded through ZonMW’s programs Personalized Medicine and Goed Gebruik Geneesmiddelen (effective use of medicine). All university medical centers in the Netherlands participate, but also stakeholders from patient organizations and professional societies such as the Vereniging Klinische Genetica Nederland and the Nederlandse Vereniging voor Pathologie.
 
 

Related news items


1.5 million for research into young people with mild intellectual disabilities

13 November 2019

Researchers from the Radboud University and Radboudumc will partner with social organisations to map how often young people with mild intellectual disabilities have psychological problems and how they can be treated. The project was recently awarded a subsidy of 1.5 million euro by ZonMw.

read more

Bart van de Warrenburg appointed visiting professor at the UKM Medical Centre in Kuala Lumpur

11 November 2019

Neurologist and Principal Investigator at the Donders Institute Bart van de Warrenburg has been appointed visiting professor at the UKM Medical Centre in Kuala Lumpur.

read more

KNAW Van Leersum beurs for Mohammad Alsady

7 November 2019

Mohammad Alsady, theme Disorders of movement, received the “KNAW Van Leersum beurs”.

read more

3D breast ultrasound elastography to improve breast cancer detection

5 November 2019

One out of seven women will be diagnosed with breast cancer during their life. Early detection of breast cancer is important to increase the survival rate. Gijs Hendriks graduated recently on a new technique, 3D elastography, to detect breast cancer better.

read more

Self-management rehabilitation program improves participation in patients with neuromuscular disease

4 November 2019

Yvonne Veenhuizen, Alexander Geurts theme Neurorehabilitation, Baziel van Engelen, theme Disorders of movement, and colleagues, showed that Energetic improves participation in patients with neuromuscular disease. They have published their results in Neurology.

read more

New NFU eBROK® course open for registration

1 November 2019

This platform is not only for researchers who want to obtain their BROK® certificate, but also for researchers who already have a BROK® certificate and want to keep their certification (re-certification).

read more