About FAIR genomes
Next-generation DNA sequencing (NGS) has greatly increased diagnostic yield, enabled choosing the best medicine with least adverse effects, has provided many clinically actionable insights and has dramatically accelerated research into understanding of genotype-phenotype relations. However, even for seemingly easy-to-solve Mendelian disorders only a minority of patients receive a clear molecular diagnosis (30-40%) and there is still limited access to targeted therapy for cancer patients in the Netherlands. The primary roadblock is no longer data acquisition, but to make data available for large-scale reuse, analysis and interpretation. This should be done in such a way that the access is well controlled, in line with the consent of the patient, and that the process is transparent and the privacy of the patients is preserved.
The FAIR genomes project is a ZON-MW funded national coordination action to unite currently fragmented guidelines & tools to increase ‘FAIR’-ness of DNA data - Findability, Accessibility, Interoperability and Reusability - uniting work from all types of DNA laboratories (rare disease, cancer, research, etc), patients/participants organisations, and has extensive collaborations with (inter)national initiatives, in alignment with Dutch and international organisations BBMRI, ELIXIR, X-omics, Solve-RD, EJP-RD, GA4GH.
Our FAIRification framework consists of multiple components:
- an Ethical Legal Societal Issues (ELSI) framework that defines guidelines for secondary use of data
- a standardized semantic metadata scheme to describe various aspects (patients and their clinical data, samples, assays, analysis procedures, consent) of the genomics data in a human and machine interpretable format
- a metadata codebook that meets the requirements of the NICTIZ national standard organisation
- an online demo of the semantic metadata scheme using MOLGENIS
- several supporting tools such as VARDA for collecting variants and their pathogenicity classifications from clinical diagnostics labs, and Mutalyzer for checking the correctness of genetic variant descriptions
Implementation studies are underway in collaborations with groups and labs from VKGL, NVVP, NVHG, PALGA, X-omics, BBMRI-NL, and VSOP.