QUEST: IBEM with Uncertain Clinical Consequence

The Michigan Public Health Institute (MPHI) received a grant from the Patient Centered Outcomes Research Institute (PCORI) in 2017 to establish a second stakeholder network, named QUEST. This stakeholder network addresses issues related to inborn errors of metabolism (IBEM) with uncertain clinical consequence. The expansion of newborn screening and the development of new technologies have made it possible to detect more and more IBEM, and some of the conditions identified do not have clear clinical consequences for the individuals diagnosed with them. In fact, newborn screening policies for these conditions vary by state. This variability in policy and practice concerning IBEM of uncertain clinical consequence has resulted in inconsistent approaches to care management among clinicians.

The goal of the QUEST project is to connect existing clinical data from patients with IBEM of uncertain clinical consequence to patient-reported outcomes data to facilitate comparative effectiveness research. The conditions that QUEST will be concentrating on include: SCAD deficiency, 3MCC deficiency, 2MBCD deficiency, duarte galactosemia (DG), and partial biotinidase (pBio) deficiency. Linking data reported by clinicians with patient-reported outcomes will help to establish a knowledge base enabling clinicians to establish consistent protocols for treatment.

Summary of responses concerning Clinical Significance and Practice Activities Associated with IBEM of Uncertain Clinical consequences. A. Summary of clinician-perceived clinical significance. B. Summary of clinician-reported care management activities used for patients with IBEM of uncertain clinical consequence.

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