Actionability

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.

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.

Initiatives & Updates

  • Actionability Working Group Evidence-based Summaries

    The summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. A protocol guides the summary development, which includes quality rating of the evidence. An expert panel reviews the summaries and applies a semi-quantitative method to score the overall clinical actionability of gene variants discovered incidental to another diagnostic investigation. For scoring, specific intervention-outcome pairs are chosen for each genetic disorder under consid...

Leadership & Members

Chairs
Coordinators
Members