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


Rebecca Halbach receives idea generator grant to fight mosquito transmitted viruses

8 July 2020

Rebecca Halbach and Pascal Miesen have investigated in a collaborative project whether the treatment of mosquitoes with antiviral drugs can prevent the transmission of mosquito-transmitted viral diseases.

read more

Invasive fungal infections in influenza and COVID-19

8 July 2020

The Aspergillus fungus is found in the lungs of many COVID patients. A parallel occurs with influenza patients, who often develop a serious fungal infection. Although such a serious fungal infection seems to occur less frequently in COVID-patients, alertness remains necessary,

read more

Werner Koopman 25 years at Radboudumc celebrating online

8 July 2020

Werner Koopman completed his 25 years at Radboudumc. Biochemistry sent him a cake at home and celebrated this special moment during COVID-19 in a unique way.

read more

The Postdoctoral Networking Tour in artificial intelligence

2 July 2020

You are a postdoctoral researcher in the field of artificial intelligence? The Postdoc-NeT-AI offers you the opportunity to participate in one week of on-site visits to leading German universities, research institutes and companies. Apply now to this year's tour until 16 August 2020.

read more

Online conference offers advantages for scientists

2 July 2020

It's not contemporary to fly around the world for every congress. Scientists can also choose the flexi option more environmentally conscious. So the online congress offers advantages, published by Teun Bousema, Estel Colado and Julie Verhoef in De Volkskrant.

read more

Register for PhD courses via gROW What does this mean for you?

2 July 2020

From now on you can arrange everything related to the general RU PhD courses via gROW. Because of this there will be some changes in the registration! What does this mean for you?

read more