Stage I: Rule-Out Dashboard Secondary Findings in Adults Status (Adult):Passed (Actionability assessment is indicated.)
Alpha-1 Antitrypsin Deficiency
1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?
Surveillance or Screening
Circumstances to Avoid
YES (>= 1 above)
3. Is the result actionable in an undiagnosed adult with the genetic condition?
4. Is there at least one known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?
SIGNIFICANCE/BURDEN OF DISEASE
5. Is this condition an important health problem?
6. Are Actionability (Q2-3), Penetrance (Q4), and Significance (Q5) all "YES"?
YES (Proceed to Stage - II)
NO (Consult Actionability Working Group)
Exception granted, proceed to Stage II
Exception not granted, STOP