title: Waiving informed consent in newborn screening research: balancing social value and respect.
abstract: While newborn screening (NBS) programs have historically relied on presumptive benefit in deciding when to implement new tests, experience has demonstrated that this approach can lead to screening tests that lack efficacy or, worse yet, cause harm. Population-based NBS research provides an opportunity to evaluate safety and effectiveness of potential tests prior to widespread implementation. Using the example of Pompe disease, we argue that waiving the requirement for informed consent is appropriate for research evaluating the screening phase of potential NBS tests when data support the potential health benefits of testing and when other research safeguards are present. The regulatory requirement for informed consent can be waived if a research study meets criteria of minimal risk, protecting rights and welfare, and practicability. In population-based NBS research, the main risks are related to false positive results and results with ambiguous implications for treatment-risks that are comparable to those posed by many tests newly added to NBS programs without prior population-based NBS research. Waiving the informed consent requirement facilitates the development of flexible strategies for informing and educating parents about NBS research that reflect the logistics of population-based NBS screening. A strict interpretation of the regulatory requirement of informed consent may create significant logistical and financial barriers to adequate evaluation of NBS tests. Without a broader interpretation of this regulatory requirement in NBS research for which there is evidence of a clinically meaningful benefit from treatment, we may create incentives for the implementation of inadequately evaluated NBS tests.
authors.affiliation: Division of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA. btarini@umich.edu
authors.forename: Beth A
authors.initials: BA
authors.lastname: Tarini
authors.forename: Wylie
authors.initials: W
authors.lastname: Burke
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
authors.forename: Benjamin S
authors.initials: BS
authors.lastname: Wilfond
mesh_terms: D005189:False Positive Reactions; D033161:Government Regulation; D006266:Health Education / Q000379:methods / Q000592:standards; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent; D015997:Neonatal Screening / Q000009:adverse effects / Q000941:ethics* / Q000331:legislation & jurisprudence / Q000379:methods*; D010290:Parents / Q000193:education; D012106:Research; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012945:Social Values; D014481:United States