The overarching goal of the Actionability WG is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.
- Develop rigorous and standardized procedures for categorically defining “clinical actionability”; a concept that includes a known ability to intervene and thereby avert a poor outcome due to a previously unsuspected high risk of disease
- Nominate genes and diseases to score for “clinical actionability”
- Produce evidence-based reports and semi-quantitative metric scores using a standardized method for nominated gene disease pairs
- Make these reports and actionability scores publicly available to aid broad efforts for prioritizing those human genes with the greatest relevance for clinical intervention.
Initiatives & Updates
Leadership & Members
Jonathan Berg, MD, PhD
Principal Investigator, “A Knowledge Base for Clinically Relevant Genes and Variants" (U01 Grant)
Christa Lese Martin, PhD, FACMG
Principal Investigator, "Unified Clinical Genomics Database" (U41 Grant)