Actionability

Aims 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.

Subgroups Documents Tools Membership

Goals

  1. 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
  2. Nominate genes and diseases to score for clinical actionability
  3. Produce evidence-based reports and semi-quantitative metric scores using a standardized method for nominated gene disease pairs
  4. Make these reports and actionability scores publicly available to aid broad efforts for prioritizing those human genes with the greatest relevance for clinical intervention.

Subgroups

Documents

Tools & Resources

  • Clinical Actionability Tools
    Clinical Actionability Tools

    Clinical Actionability tools support the curation process 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.

    Curations Interface

Working Group Membership

Membership spans many fields, including genetics, medical, academia, and industry.