Title

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

UMMS Affiliation

New England Newborn Screening Program; Department of Pediatrics, Division of Genetics

Date

3-1-2016

Document Type

Article

Disciplines

Maternal and Child Health | Medical Genetics | Pediatrics

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.

Rights and Permissions

Citation: Matern Child Health J. 2016 Mar;20(3):693-700. doi: 10.1007/s10995-015-1869-9. Link to article on publisher's site

Related Resources

Link to Article in PubMed

Keywords

Burdens, False positive, Harms, Net benefit, Newborn screening

PubMed ID

26833040