
Building a Primary Care Pathway to AATD Testing
Clinicians cannot be expected to remember every rare disease. Default order sets, testing tied to pulmonary function results, and standardized genotyping can make AATD testing the easy choice rather than an added burden.
Episodes in this series

Dr. Kuhn anchors "Building a Primary Care Pathway to AATD Testing," arguing that better systems, rather than more reminders, will close the testing gap.
Dr. Haumschild stresses that patients with AATD are managed mostly by pulmonologists but often present first in primary care. He asks Dr. Kuhn what it would take to build a consistent pathway from the first primary care visit to an appropriate workup. Dr. Kuhn begins by defending primary care physicians. His wife is an internist, and she listens and takes notes on why testing matters. Yet hypertension and diabetes are evolving so quickly that keeping up with those diseases dominates her education time.
He identifies another challenge. There is no negative feedback for failing to test, and clinicians cannot tell what an AATD patient looks like by inspection. Nothing about AATD prevents a patient from smoking or from showing patterns that resemble ordinary COPD on CT. It is hard to pitch a solution if clinicians do not perceive a problem.
The opportunity, he says, lies in health systems and payers building processes that make testing the default. Examples include testing at the pulmonary function lab tied to the order, and heuristics that flag any patient with obstruction. At UC Davis, the COPD order set includes the correct AATD test already selected. A fellow must actively unclick it, which pushes people toward the right action.
Dr. Kuhn also credits the AlphaDetect effort, supported by the Alpha-1 Foundation, for simplifying testing. Genotype can mean different things at different labs, and many physicians are anxious about interpretation and genetic counseling. AlphaDetect standardizes testing with genotyping up front and back-end rules. Dr. Haumschild agrees and adds that order sets support health equity, since a patient at a community clinic benefits without depending on a specialist's limited clinic days.
In "AATD Economic Burden: Costs, Comorbidities, and Total Cost of Care," the panel will examine the escalating economic burden of AATD, beginning with Dr. Sandhaus on why cost studies in this population are harder to interpret than they appear.
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