Nomination of MPS I to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC)

In January 2012 the National MPS Society submitted the nomination package for MPS I to be considered for the recommended uniform screening panel.  These are diseases screened at birth and recommended by the Secretary of the Department of Health and Human Services (HHS) for states to screen as part of their state universal newborn screening (NBS) programs. Diseases on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disease, and the availability of effective treatments. It is recommended that every newborn be screened for all diseases on the RUSP. Most states screen for the majority of diseases on the RUSP; newer conditions are still in process of adoption. Some states also screen for additional diseases. Although states ultimately determine what diseases their NBS program will screen for, the RUSP establishes a standardized list of diseases that have been supported by the SACHDNC and the Secretary of HHS.

An expert committee, comprised of clinicians and newborn screening experts and the Society’s executive director, provided the detailed information required for the nomination package.

Lorne Clarke, MD
Paul Harmatz, MD
Joan Keutzer, PhD
Paul Orchard, MD
C. Ronald Scott, MD
Barbara Wedehase, MSW, CGC

During the May 17, 2012 meeting of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, the Committee accepted the nomination and requested the Condition Review Workgroup review the evidence regarding the harms and benefits related to newborn screening for MPS I.  The review was delayed until July, 2013.  Barbara Wedehase was asked to participate as an expert advisor on the Technical Expert Panel.  The review process is expected to continue through May 2014.