Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy. The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as representatives/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing, interpretation of results, psychosocial considerations, and references to professional and patient resources.

Current approaches to health care quality have failed to reduce health care disparities. Despite dramatic increases in the use of quality measurement and associated payment policies, there has been no notable implementation of measurement strategies to reduce health disparities. The National Quality Forum developed a road map to demonstrate how measurement and associated policies can contribute to eliminating disparities and promote health equity. Specifically, the road map presents a four-part strategy whose components are identifying and prioritizing areas to reduce health disparities, implementing evidence-based interventions to reduce disparities, investing in the development and use of health equity performance measures, and incentivizing the reduction of health disparities and achievement of health equity. To demonstrate how the road map can be applied, we present an example of how measurement and value-based payment can be used to reduce racial disparities in hypertension among African Americans.

Proper selection of patients and accurate interpretation of pre-treatment investigations are vital for minimizing adverse effects following therapy with SIR spheres. In our experience, all adverse effects were moderate with no life-threatening consequences.

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Acceptable reproducibility of the percentage of RFD (ICC = 0.78) was only observed for the e-diary using the FEV(1) stability criterion. The ICCs for SFD and RFD were acceptable, 0.84 and 0.70, respectively, suggesting better reliability for the e-diary.