ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Rule-Out Dashboard Adult or Pediatric Secondary Findings Permalink Current Version A Summary Report - Adult P Summary Report - Pediatric Release History - Adult Release History - Pediatric Status (Adult): Passed Status (Pediatric): Incomplete
ACTIONABILITY
1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
YES
NO
2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?
Yes
No
Patient management
Surveillance or Screening
Circumstances to Avoid
YES (≥ 1 of above)
NO
3. Is it actionable in an undiagnosed adult with the condition?
YES
NO
4. Is there an intervention that is initiated during childhood (<18 years of age) in an undiagnosed child with the genetic condition?
YES
NO
5. Does the disease present outside of the neonatal period?
YES
NO
SIGNIFICANCE/BURDEN OF DISEASE
6. Is this condition an important health problem?
YES
NO
PENETRANCE
7. Is there at least on known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?
YES
NO
UNKNOWN
NEXT STEPS
8. ADULT - Are Actionability (Q1-3) and Significance (Q6) "YES", and Penetrance (Q7) "YES" or "UNKNOWN"?
YES (Proceed to Summary Report for AAWG)
NO (Consult AAWG)
Exception granted, proceed to Summary Report
Exception not granted, STOP
9. PEDIATRIC - Are Actionability (Q1, Q2, Q4, Q5) and Significance (Q6) "YES", and Penetrance (Q7) "YES" or "UNKNOWN"?
YES (Proceed to Summary Report for PAWG)
NO (Consult PAWG)
Exception granted, proceed to Summary Report
Exception not granted, STOP