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DOI: 10.1542/peds.2014-3874


OBJECTIVE: To investigate if a national pediatric primary care quality improvement collaborative (QIC) could improve and sustain adherence with process measures related to diagnosis and management of children with genetic disorders.

METHODS: Thirteen practices in 11 states from the American Academy of Pediatrics' Quality Improvement Innovation Networks participated in a 6-month QIC that included regular educational opportunities, access to genetic professionals, and performance feedback. The QIC identified 11 aims related to improving diagnosis and management of children with genetic disorders. The practices evaluated adherence by reviewing patient records at baseline, monthly for 6 months (active improvement period), and then once 6 months after the QIC's conclusion to check for sustainability. Random intercept binomial regression models with practice level random intercepts were used to compare adherence over time for each aim.

RESULTS: During the active improvement period, statistically significant improvements in adherence were observed for 4 of the 7 aims achieving minimal data submission levels. For example, adherence improved for family histories created/maintained at health supervision visits documenting all components of the family history (6% vs 60%, P < .001), and for patients with specific genetic disorders who received recommended care (58% vs 85%, P < .001). All 4 of these aims also demonstrated statistically significant improvements during the sustainability period.

CONCLUSIONS: A national QIC reveals promise in improving and sustaining adherence with process measures related to the diagnosis and management of genetic disorders. Future research should focus on patient outcome measures and the optimal number of aims to pursue in QICs.

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MeSH Keywords

Child; Cooperative Behavior; Genetic Diseases, Inborn; Genetic Services; Guideline Adherence; Humans; Outcome and Process Assessment (Health Care); Pediatrics; Practice Guidelines as Topic; Primary Health Care; Quality Improvement; United States


Genetic services; Genetic diseases