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.


James P. Evans, MD, PhD

Katrina Goddard, PhD


Please contact a coordinator if you have questions.

Kristy Lee, MS, CGC


20 members contribute to the Actionability Working Grouping. All Members