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


Extended deadlines grant proposals

31 March 2020

The deadlines to submit grant proposals has been extended by most funding agencies.

read more

HFSP Grant for Johannes Textor

30 March 2020

Johannes Textor, theme Cancer development and immune defense, has been awarded a program grant of 1 million US dollars by The Human Frontier Science Program (HFSP) to investigate how T cells navigate extremely dense environments using experiments, modeling and methods from pedestrian dynamics.

read more

Ritalin enhances your ability to do tasks by making you more motivated

26 March 2020

A new study uncovers how stimulants like Ritalin work in the brain, and it challenges some misconceptions for its recreative use. The collaboration between Radboudumc and Brown University (USA) was published in the journal Science.

read more

Dealing with COVID-19 in low- and middle-income countries

26 March 2020

RIHS researcher Joost Hopman believes that low-and middle-income countries should intensify their preparedness for a possible COVID-19 outbreak. This was the core message of an opinion article that he wrote at the request of the medical journal JAMA.

read more

Physiotherapy is important to the recovery of patients with the coronavirus

26 March 2020

Patients who have been infected with the coronavirus and admitted to the hospital for this reason should receive physiotherapy as soon as their condition allows. This is the view expressed by physiotherapists and researchers from the Radboudumc in a set of joint treatment recommendations.

read more

Healthcare utilization and regional variation of end-of-life hospital care in Dutch cancer patients

26 March 2020

In International Journal of Quality Health Care RIHS researcher Femke Atsma showed high healthcare utilization and medical variation in End of Life care in Cancer patients, which was not associated with GP care or long term care.

read more