This announcement solicits applications for the Newborn Screening Implementation Program Regarding Conditions Added to the Recommended Uniform Screening Panel (RUSP). The overall goal for this initiative is to increase the number of newborns receiving early treatment for Pompe disease, Mucopolysaccharidosis I (MPS I), and X-linked Adrenoleukodystrophy (X-ALD) by:
fostering the integration of and building capacity for newborn screening for these conditions;
increasing the number of NBS laboratory scientists and short-term follow-up personnel with knowledge and skill in conducting newborn screening and short-term follow-up for Pompe disease, MPS 1, and X-ALD;
providing training, education, and sharing of information via a national meeting for the public health community;
supporting primary health care providers through education and resources, with special attention to cases with later onset of symptoms; and
engaging families in the development and dissemination of educational materials and support mechanisms that are culturally sensitive and family-centric for families who have an infant identified through NBS.
Program activities supported by this funding opportunity must include the delivery of technical assistance (TA), education, and financial resources to support at least 15 state NBS programs (which may include state and/or local NBS programs) that have not, at the time of these program activities, fully implemented NBS for Pompe disease, MPS 1, and/or X-ALD (but that have demonstrated their readiness to fully implement NBS within 12-24 months), and which increases the number of newborns receiving appropriate screening and follow-up relative to these conditions. For the purposes of this FOA, a fully implemented newborn screening program for Pompe disease, MPS 1, or X-ALD includes, for these specific conditions: demonstrating the ability to screen all newborns within a state or jurisdiction; having a clinical referral network to follow and treat identified newborns; and having an educational and awareness program for families and health care providers and to support families with a screen-positive infant.
Program activities must include, relative to these conditions:
Developing and implementing a plan to identify and support (which may be via sub-awards) state and local newborn screening programs (including territories and tribes) that have not fully implemented NBS for Pompe disease, MPS 1, and/or X-ALD as part of their newborn screening program. States’ NBS programs supported under this program may implement testing for one, two, or all three conditions;
Entering into sub-award agreements with state newborn screening programs, or other appropriate entities, within five (5) months of receiving the award, that will:
Foster the integration of screening for Pompe disease, MPS 1, and/or X-ALD into NBS programs and short-term follow-up by the end of the grant period; and
Provide the public health and clinical communities (laboratory scientists, health care providers, newborn screening program officials, primary care physicians) with needed knowledge, skills and training to provide follow-up care and treatment for these conditions.;
Engaging parents, families, and patient advocacy organizations in developing and delivering national, regional, and/or state educational and awareness programs that are culturally sensitive and at appropriate literacy levels for families that have an infant identified through NBS. Materials must include information on newborn screening, diagnostic evaluations, and treatment and follow-up options for the condition;
Developing and disseminating information for health care providers on newborn screening, the diagnostic evaluation, and treatment options for the condition, including long term follow up for late onset cases;
Facilitating integration of NBS for Pompe disease, MPS 1, and X-ALD through TA to newborn screening laboratories, development of case definitions, and dissemination of best practices;
Holding and funding the logistical costs for a minimum of one (1) joint meeting per year of the sub-awardees and other relevant stakeholders to share and disseminate information relative to implementation actions for these conditions;
Facilitating communication between sub-awardees and collaboration with: states (including local programs) that have fully implemented NBS for Pompe disease, MPS 1, and/or X-ALD; other relevant federal and non-federal programs facilitating NBS and data collection for these conditions such as the Newborn Screening Translational Research Network and the Centers for Disease Control and Prevention (CDC)’s Newborn Screening Quality Assurance Program; and MCHB-funded programs including, but not limited to the Regional Genetics and Newborn Screening Collaboratives, the National Coordinating Center for the Collaboratives, the Newborn Screening Data Repository and Technical Assistance Center, and the Clearinghouse of Newborn Screening Information; and
Evaluating the progress towards achieving national newborn screening for Pompe disease, MPS 1, and X-ALD in all states and territories.
