| Domain 1: revise and improve timeliness of RUSP review |
Solution 1.1: greatly expand funding for the ACHDNC’s work and the evidence review process to allow for simultaneous review of multiple disorders. Solution 1.2: build a more robust system to guide and support advocates in preparing a complete and compelling RUSP nomination package. Solution 1.3: move from a condition-by-condition review model to reviewing “bundles” of disorders with similar features. For example, a multiplex panel of related disorders or multiple conditions with an FDA-approved therapy could be reviewed at the same time. Solution 1.4: revise the amount and type of evidence required to support net benefit. Examples of expanded net benefit could include information about patient preferences, earlier referral to care, earlier access to an FDA-approved therapy, benefits to families, or access to early intervention programs.
|
| Domain 2: create mechanisms to offer screening for conditions in addition to those on the RUSP |
Solution 2.1: establish a provisional RUSP, allowing for unconsented screening of conditions for which there is a greater degree of uncertainty regarding the appropriateness or utility of screening due to insufficient data available at the time of FDA approval of a treatment. This would include a required review after several years to address specific research and implementation questions before permanent addition to the RUSP. Solution 2.2: establish a voluntary RUSP, an optional panel of disorders for which there is moderate certainty of net benefit, but major questions remain about diagnostic, treatment, or follow-up protocols (thus requiring consent). Offer the voluntary RUSP as part of a coordinated national program with a strong research component. Solution 2.3: create a model of public-private partnership with multistakeholder engagement to inform and support current and expanded NBS.
|
| Domain 3: accelerate and expand data collection to inform policy decisions and implementation |
Solution 3.1: align federal programs across agencies to maximize coordinated data collection and sharing to inform policy. Solution 3.2: greatly expand and expedite competitive funding for research and pilot studies, both investigator-initiated proposals and federally directed requests for proposals addressing cross-cutting issues. Solution 3.3: establish mechanisms for coordination of protocols and data integration for multiple states to rapidly implement and test feasibility of screening for provisional disorders. Solution 3.4: establish a coordinated network of research centers to anticipate important research questions or rapidly scale up to answer questions the ACHDNC or nominators believe to be essential prior to any recommendation. Solution 3.5: establish a national center and database to coordinate, collect, and analyze natural history data (outcomes) for children identified by NBS, assess family well-being and economic burden, and determine whether and how the long-term benefits of NBS are equitably experienced across families and states.
|
| Domain 4: help states expedite comprehensive implementation of NBS for new disorders |
Solution 4.1: expand national capacity for individualized technical assistance to states based on state needs and priorities. Solution 4.2: massively expand and sustain federal funding for state-based screening, but with stronger national authority and clear criteria that must be met to receive funding (eg, the state must adopt new disorders within a defined period of time). Solution 4.3: create and fund a network of regional screening laboratories (either commercial or academic), with the expertise and equipment to support the laboratory screening needs of individual states. Solution 4.4: create state or regional models for follow-up that provide equitable access to highly specialized treatments. Solution 4.5: raise public awareness of NBS by launching a national and sustained public information campaign about the combined public health impact of rare conditions, benefits of NBS, and the opportunity costs of not screening.
|
| Domain 5: evaluate emerging methods of screening and their consequences |
Solution 5.1: develop ongoing national capacity to assure that screening identifies children who require treatment and minimizes the identification of children who will never need treatment. Solution 5.2: launch a robust line of coordinated research designed to test the feasibility and benefits of genetic and genomic approaches to identify newly treatable disorders in NBS. Solution 5.3: conduct a series of studies on the costs, consequences for families and the health care system, and public perceptions of (1) false-positive screening outcomes and (2) the need for long-term surveillance to determine when and if transformative treatments should be provided to babies identified through screening.
|
