Correction: Regional models of genetic services in the United States.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Regional models of genetic services in the United States.

Purpose: To outline structures for regional genetic services support centers that improve access to clinical genetic services.

Methods: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system.

Results: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers.

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.

Importance: Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexities associated with NBS processes in the United States, with a focus on challenges in neuromuscular disorders.

Observations: As new interventions for neuromuscular disorders become available, the clinical community must prepare to overcome the challenges of adding new diseases to screening panels and understand the rigorous evidence review at the federal level and the complex process of state-level implementation.

A framework for assessing outcomes from newborn screening: on the road to measuring its promise.

Unlabelled: Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes. NBS is a public health success, providing reduction in mortality and improved developmental outcomes for screened conditions. However, it is less clear to what extent newborn screening achieves the long-term goals relating to improved health, growth, development and function.

A framework for key considerations regarding point-of-care screening of newborns.

Newborn screening is performed under public health authority, with analysis carried out primarily by public health laboratories or other centralized laboratories. Increasingly, opportunities to improve infant health will arise from including screening tests that are completed at the birth centers instead of in centralized laboratories, constituting a significant shift for newborn screening. This report summarizes a framework developed by the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children based on a series of meetings held during 2011 and 2012.