- 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.
Semi-quantitative Scoring MetricSupporting Documents - February 21, 2019 - Specific outcome-intervention pairs are scored for (i) severity of the outcome; (ii) likelihood of the disease; (iii) effectiveness of the intervention; and (iv) nature of the intervention in terms of burden and risk to the patient.
Overview of the Clinical Actionability evaluation processTraining Materials - February 21, 2019 - Overview of the clinical actionability evaluation process, prepared February 2017
Systematic Assessment Of Clinical Actionability Associated With Genomic VariationTraining Materials - February 23, 2017
Tools & Resources
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.