Optimal implementation of precision medicine is reliant on sharing data on genes, variants and phenotypes. Access to large data sets of comparable genome information is fundamental to the ability to analyze each patient’s genetic fingerprint, and to understand the implications of individual variants. Differences in variant frequencies between populations further underline the importance of large and ethnically diverse data sets. BigMed will make clinical genomics data more available and actionable through the construction of genomic databases and decision support tools. 

Activities and deliverables are described below.  

What can be shared as anonymous data? 

  • Trusted Variant eXchange (TVX): Solution for sharing of classified variants with trusted partners, including conflict detection for quality assurance and shared learning between laboratories.  
  • Implement online sharing of single variants (GA4GH Beacon service)

Sharing of sensitive information 

  • Implement point of contact for queries of similar cases (secure sharing/querying of variants in context and with phenotype based on Human Phenotype Ontology via GA4GH Matchmaker exchange)
  • Decision support tool for copy number variant interpretation 
  • Establish genome reference database (pseudonymized genome database)
  • Report: Needs and requirements mapping for reference database with genome and phenotype both for clinical and research purposes.

Other

  • Structured phenotyping: Mapping of relevant phenotype ontologies related to high speed pipeline. 
  • Report on verification and validation approaches for variant interpretation decision support software

Consent

  • Consent management for genomics: Mapping of needs and requirements for “the perfect consent solution”, stakeholder mapping involving clinical needs, patient needs, regulatory requirements etc.  
  • Digital dynamic consent solution developed 


Partners:  OUS dept for medical genomics, OUS dept of tumor biology, DNV GL, OUS legal section, UiO legal faculty, UiO USIT