Collaboration around DNA data collection brings tailor-made treatment closer together

The collection and interpretation of the genetic profiles of patients are still insufficiently standardized. This means a lot of duplication, but most importantly: the patient still benefits too little from the benefits of DNA analysis. A broad partnership of scientists, doctors and patients has received a grant from ZonMw to create a workbook for managing genetic data. This ambitious project, led by the UMCG Genetics Department, brings science and patient care closer together.

Genome data (data on their genetic profile) are available to a growing number of people. For example, because patients with cancer or a rare disease are now routinely screened for abnormalities in their complete DNA. This is also called "sequencing". These data are valuable for the development of personalized medicine (tailor-made treatment). For example, practitioners can better account for inherited differences in the response of a tumor to anticancer drugs. And the data help to establish a timely diagnosis (and possible treatment) of rare diseases because they show what features of DNA are related to the disease. But then, this data must be collected and stored unambiguously, so that it can be compared and reused.

Need for Harmonization

In KWF Kankerbestrijding's Personalized Medicine research program, Zilveren Kruis and ZonMw have recently been selected for how the process of collecting and processing genome data takes place in practice. And where are the gaps. Dozens of experts and professionals involved were interviewed on this subject. This revealed a strong need for harmonization and standardization of data management in DNA research. A standard method of collecting and interpreting genome data is needed to transmit research data and study results more quickly to the patient. On the basis of "gap analysis", a broad national partnership with a ZonMw grant will create a working guide for data management. The project leader is Professor Morris Swertz of the Department of Genetics of UMCG

An understandable tip

The process of genome sequencing is complex and involves many different professionals. But it always starts and ends with the patient and his doctor. From the analysis of the genetic profile, it is necessary to provide an unambiguous and, above all, understandable advice with which they can continue. The workbook also begins with the patient and comes back to that. Important aspects are the reproducibility and reuse of data, elements of the FAIR data approach (findable, accessible, interoperable and reusable). Useful genetic data on patients is often available. With the management of DNA data, there is no need to re-sequence them for scientific research on personalized medicine.

Patients are hooked

What will the work guide give? Science, health care and patients will soon be closer together, making possible better tailored treatment. Swertz and its project group expect the work guide to be widely applied in practice. All professional groups and academic centers involved participate. Patients have also been brought into contact, including through VSOP, the umbrella organization for rare and genetic diseases.