Evaluation of genetic counseling among cystic fibrosis carriers, Michigan Newborn Screening.

OBJECTIVE: A quality improvement (QI) strategy to improve the rate of genetic counseling (GC) services was initiated in cystic fibrosis (CF) care Center E in 2010. This statewide study was conducted to determine: (1) GC rates before and after implementation of the QI strategy at Center E; (2) characteristics associated with not receiving GC; and (3) topic areas addressed during GC. METHODS: The retrospective study included 1,097 CF carriers born from 2008 to 2011 identified through Michigan's Newborn Screening Program. Rate of GC services was determined for Center E and the other four CF centers before and after the QI change. Bivariate and multivariable logistic regression was used to determine associations between select characteristics and not receiving GC. Topic areas discussed during GC sessions were assessed using frequency tables. RESULTS: Rate of GC services in Center E increased from 23% in 2008-2010 to 91% in 2011, while at the other centers approximately 92% received GC services across those years. In 2008-2010, being seen at Center E and black race were significantly associated with increased likelihood of not receiving GC services in adjusted analyses. In 2011, neither characteristic was associated with receipt of GC. Of 16 target topic areas, all were discussed in 85% of GC sessions. CONCLUSIONS: Implementing a QI strategy of providing sweat test results at the GC appointment within Center E resulted in more CF carriers receiving comprehensive GC services. Center-specific procedure differences should be assessed to increase rate of GC services following a positive CF newborn screen.

Newborn screening follow-up within the lifespan context: Michigan's experience.

Experience in using various data sources for surveillance systems and studies complements the growing knowledge base regarding requirements for newborn screening follow-up, which include integration with services other than clinical subspecialties. A proposed model for utilizing state resources to develop sickle cell disease surveillance across the lifespan is presented. This surveillance process should help evaluate the burden of sickle cell disease across the lifespan, and it could be used as a model for other hemoglobinopathies as well as other newborn screening disorders. Through the continued assessment and monitoring of prevalence, comorbidities, service utilization, cost, and patient outcomes, the newborn screening follow-up program will be able to inform public health policy.