Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children

Abstract

The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is charged with evaluating conditions nominated for addition to the uniform screening panel and consequently making recommendations to the secretary of the US Department of Health and Human Services. This report describes the framework by which the committee approaches its task. Key decision nodes include initial review of every nomination to determine whether conditions are amenable for systematic evidence review, review of systematic evidence reviews conducted by the committee's external review group, and deliberation and formal recommendation for addition or exclusion to the uniform panel. Data analyzed include the accuracy and specificity of screening and diagnostic tests for nominated disorders, the extent of predicted health benefits, harms impact on disease course, and cost from early diagnosis and treatment. The committee process is guided by approaches used by similar entities, but more flexible criteria are sometimes needed to accommodate data limitations stemming from the rarity of many of these conditions. Possible outcomes of committee review range from recommendation to add a nominated condition to the uniform panel; provide feedback on specific gaps in evidence that must be addressed before making a decision; or rejection of a nomination (e.g., because of identified harms). The committee's structured evidence-based assessment of nominated conditions supports a consistently rigorous, iterative and transparent approach to its making recommendations regarding broad population-based screening programs for rare conditions in infants and children.

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

“…The framework proposed in this study differs somewhat from that published by Calonge et al 6 in that this framework's focus is based primarily on decisions made at the state level rather than at the national level. The scoring system, using the pNBS Decision Score, provides a semiquantitative comparison of a candidate disorder to specific disorders presently included in screening panels.…”

“…The slow, deliberate, thoughtful approach to adding disorders to newborn screening panels may be distasteful to advocacy groups who see children continuing to suffer from these disorders during the process, but nevertheless, the end product of a carefully designed screening program with low risk for harm and high likelihood of success may justify the process. " Calonge et al 6 published an important committee report on an evidence-based review process from nomination of a NBS disorder through the inclusion of a disorder as part of the recommended uniform panel. This process uses 6 key questions covering improved outcomes, case definitions, test/screening methodology, clinical validity of the screening algorithm, clinical utility of the screening algorithm, and cost-effectiveness.…”

“…Another important consideration presented in the report by Calonge et al 6 is that of evidence and potential knowledge gaps.…”

“…Although the Secretary's Advisory Committee on Heritable Disorders has made recommendations concerning candidate disorders for NBS panels at the national level and has recently issued a committee report, 6 a number of states have moved forward on their own and have introduced legislation to add disorders to their respective panels. A recent effort to encourage expansion of NBS panels to include testing for lysosomal storage diseases has been undertaken by a number of advocacy and stakeholder groups in several states, including New York, 7 Illinois, 8 Missouri, 9 and New Mexico.…”

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

“…State decisions about which conditions merit screening are guided by recommendations from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. 1 Most parents accept the trade-off between the need for rapid action and the loss of parental autonomy, 2 although cross-country variations exist. [3][4][5] Some ethicists suggest that the possibility of whole-genome or whole-exome sequencing and the breadth of information potentially available will only heighten the debate, forcing mandatory screening to be reconsidered and strengthening the case for informed consent.…”