Article

Waiving informed consent in newborn screening research: Balancing social value and respect†‡

  1. Beth A. Tarini§,*,
  2. Wylie Burke,
  3. C. Ronald Scott‖,
  4. Benjamin S. Wilfond††

Article first published online: 15 JAN 2008

DOI: 10.1002/ajmg.c.30164

Issue

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Special Issue: Children and Genetics: Ethics and Policy

Volume 148C, Issue 1, pages 23–30, 15 February 2008

Additional Information

How to Cite

Tarini, B. A., Burke, W., Scott, C. R. and Wilfond, B. S. (2008), Waiving informed consent in newborn screening research: Balancing social value and respect. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 148C: 23–30. doi: 10.1002/ajmg.c.30164

Author Information

  1. §

    Beth A. Tarini, MD, MS, is a Lecturer in the Child Health Evaluation and Research Unit at the University of Michigan. Dr. Tarini's research focuses on the organization and delivery of health care services to infants and their families through newborn screening programs.

  2. Wylie Burke, MD, PhD, is a Professor and Chair of the Department of Medical History and Ethics at the University of Washington. Dr. Burke's research addresses the social, ethical and policy implications of genetic information.

  3. ‖

    C. Ronald Scott, MD, is a Director of the Biochemical Genetics and Molecular Diagnostic Laboratories at Seattle Children's, as well as a clinical biochemical geneticist and Professor of Pediatrics at the University of Washington. Dr. Scott's current research focuses on the multiplex analysis of inborn errors using tandem mass spectrometry.

  4. ††

    Benjamin S. Wilfond, MD, is Director of the Treuman Katz Center for Pediatric Bioethics at Children's Hospital and Regional Medical Center, as well as Professor and Chief of the Division of Bioethics, Department of Pediatrics at University of Washington. Dr. Wilfond conducts research on ethical and policy issues related to genetic testing, genetic research and pediatric research.

*Lecturer, Division of General Pediatrics, University of Michigan, 300 N. Ingalls St., Rm 6C11, Ann Arbor, MI 48109.

  1. †

    How to cite this article: Tarini BA, Burke W, Scott CR, Wilfond BS. 2008. Waiving informed consent in newborn screening research: Balancing social value and respect. Am J Med Genet Part C Semin Med Genet 148C:23–30.

  2. ‡

    The views expressed herein do not represent the views of the University of Michigan, the University of Washington or Seattle Children's Hospital.

Publication History

  1. Issue published online: 23 JAN 2008
  2. Article first published online: 15 JAN 2008

Funded by

  • National Human Genome Research Institute. Grant Number: P50HG003374
  • National Institute of Child Health and Human Development
  • National Institute of Child Health and Human Development. Grant Number: HHSN267200603429C

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Keywords:

  • newborn screening;
  • informed consent;
  • Pompe disease

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. © 2008 Wiley-Liss, Inc.

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