We are pleased to announce Curating the Clinical Genome, which aims to bring the clinical genomics community together to discuss best practices for the global sharing of genomic data. This is latest in the series of meetings on this topic, which have focused on the efforts of the ClinGen and/or DECIPHER consortia. The programme will be of interest to a wide group of medical genomics researchers, clinicians practising genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing.
The sharing of genetic data from clinical diagnostic testing is vital for delivering on the promise of genomic medicine. There are vast amounts of genetic data generated around the world for clinical diagnostic testing, but little of these data are shared, often resulting in elevated rates of under-diagnosis and mis-diagnosis.
Global data sharing is in its infancy, there are significant technical, scientific, cultural, ethical and legal barriers to sharing more data more broadly. The growing recognition of the power of global data sharing has led to major new initiatives being established, typically on a national or regional scale. This focus of this meeting is to bring together these initiatives, to develop common standards, share best practices, integrate the latest research findings and drive patient benefit.
This year's meeting will focus on harnessing patient and population data for knowledge curation, the use of ‘matchmaking’ to discover new disease genes, and defining evidence for gene-disease relationships. There will be a special session focusing on the how variants are evaluated for pathogenicity, including a discussion of the guidelines and resources available to make this more transparent. We will also explore new frontiers that are opening up in clinical genomics, from a technical and ethical perspective.