Data management critical step in genomics research

Collection and interpretation of genetic profiles occur routinely on patients with cancer or a rare disease nowadays. For many patients, their entire DNA has been unraveled or ‘sequenced’. These data are valuable for the development of personalized medicine: a tailor-made treatment.

However, to date this collecting and processing of genome data is still insufficiently standardized. Same tasks are executed more than once, and, above all, the patient doesn’t receive all possible benefits of DNA analysis yet.

What should be done about this? How can patients benefit more quickly from the rapid developments in the field of next generation genome sequencing?

That is why Dutch Cancer Society (KWF), Zilveren Kruis and the Netherlands Organization for Health Research and Development (ZonMw) are closely working together in the ‘Personalized Medicine’ Research Program.

In the Data Management working group in the Research Program, dr. Jeroen Beliën (Amsterdam UMC) and dr. Anke Kip (Lygature), together with Prof. Dr. Morris Swertz (UMCG), analyzed the ‘gaps’ in the process of collecting and processing genome data. Of the 128 identified gaps, some 60 were about data management.

A follow-up project will be set up to fill these ‘gaps’ and develop a work guide (werkwijzer) under supervision of the department of Genetics of the UMCG.

This is a major step in the domain of Health-RI, the unique Dutch nation-wide Research Infrastructure for Personalized Health and Medicine. Filling the gaps and interconnecting data research will surely lead to new developments, such as analyses using artificial intelligence and machine reading.

The expectations in the field are high, as was apparent in the run-up to the assignment for the work guide. Science, clinic and patient will soon come closer together. And that allows for a better tailor-made treatment: Personalized Medicine.

16 November 2018