Unlike most of the disorders screened for on the RUSP, the current treatment options for LSDs are invasive, very expensive, and far from perfect.
7) Nonstandard abbreviations: LSDs, lysosomal storage disorders; NBS, newborn screening; DBS, dried blood spot; SACHDNC, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (of the US Department of Health and Human Services); RUSP, recommended universal screening panel; MPS-I, mucopolysaccharidosis I; MPS-IH, Hurler syndrome; FDS, US Food and Drug Administration; ERT, enzyme replacement therapy; MS/MS, tandem mass spectrometry; DMF, digital microfluidics.
The Patient Protection and Affordable Care Act of 2010 provides coverage for screening disorders in the RUSP
, but not for treatment (Costich & Durst, 2016).
Among the 43, three states (Indiana, Maryland, and New Jersey) enacted legislation before the Secretary's approval of adding CCHD to the RUSP
in 2011 (Table).
Some IMDs have been added to the RUSP of ACMG after first publication (22).
Despite the increasing availability of treatment options which have been shown to lead to better outcomes when initiated early in life; only 2 diseases (Pompe disease and MPS-I) have recently been added to the RUSP.
As previously mentioned, this disease has been approved to be added to the RUSP (57).
To assess the differences between state birth defect surveillance programs, in October 2010, after the SACHDNC recommendation to add screening for CCHD to RUSP
, CDC collaborated with the National Birth Defects Prevention Network, a national network of state and population-based programs for birth defects surveillance and research, to create and distribute an electronic survey to birth defects surveillance program primary contacts (6) in all 50 states, the District of Columbia, and Puerto Rico.
The initial RUSPS method concentrated in the core of four sectors: Governance, Slums & Shelter, Environment, and Gender.
The goal of the RUSPS programme is "To strengthen local, central and regional institutional and key stakeholders' capacities in settlement and slum improvement using an approach which is based on good governance and management approaches.
In summary, RUSPS is an accelerated action-oriented assessment of urban conditions in a city.
As indicated earlier, the RUSPS methodology was initially developed by UN-Habitat working with the European commission and Urban Sector profile Study in Somalia in 2003.