Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review

Abstract

Background The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (“Advisory Committee”) makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee’s decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits. Procedures The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee. Main findings To support the Advisory Committee’s review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy. Conclusions Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee.

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

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Precision newborn screening for lysosomal disorders

“…Currently, the recommended uniform screening panel encompasses 34 conditions. The HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is tasked with overseeing the process 5 of adding emerging conditions 6,7 to the recommended panel. The most recent additions are acid α-glucosidase (GAA) deficiency (Pompe disease), 8 α-L-iduronidase (IDUA) deficiency (MPS I), 9 and X-linked adrenoleukodystrophy.…”

Qualitative Research on Expanded Prenatal and Newborn Screening: Robust but Marginalized

“…Systematic reviews and meta‐analyses, which often exclude qualitative studies, have been embraced as the best methods for summarizing research findings. Systematic reviews and meta‐analyses have been held up as an evidentiary gold standard for informing practice, policy, and guidelines (see, for example, pieces by Scott Roberts, Christopher Wade, and Barbara Biesecker in this special report). As a result, qualitative evidence is often excluded, sidelined, distorted, and undermined as a useful source of insight.…”