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Unlocking the potential for newborn screening research


U-M expert says waiving informed consent could expand study of newborn screening techniques and improve patient safety

Ann Arbor, MI – Informed consent has long been the cornerstone of ethical and safe medical research involving patients and healthy volunteers.

newborn imageBut for the testing of certain new screening techniques for newborn babies, individual patient consent may limit study groups, and even create a barrier to the implementation of techniques that are safe and provide the most health benefit to newborns.

In an article now online and set to be published in the Feb. 15 issue of the American Journal of Medical Genetics, University of Michigan C.S. Mott Children’s Hospital researcher and lead author Beth A. Tarini, M.D., says waiving informed consent for population-based newborn screening research would allow for a more complete evaluation of the safety and effectiveness of these tests before broad implementation.

“Historically, the vast majority of newborn screening tests currently being used have been not studied in large populations prior to their adoption into state programs across the country. As a result, these tests may not be adequately evaluated before their prime time debut,” says Tarini, a clinical lecturer and member of the Child Health Evaluation and Research (CHEAR) Unit in the Division of General Pediatrics at Mott.

One barrier to evaluating these tests in populations is the current federal regulations involving informed consent for research, which adds considerable costs and logistical complexity. According to Tarini: “Without this kind of research, tests that do not effectively identify infants with disease or mistakenly label healthy infants as having a disease may be implemented.”
Beth A. Tarini, M.D

That’s why Tarini says using a more flexible approach to informed consent for newborn screening research would promote thorough evaluation of promising new tests while still ensuring that participating parents are adequately informed about the risks and benefits of the research. Such an approach, according to Tarini, can help make certain that tests are introduced into newborn screening programs in a rational manner, with maximum benefit and minimal harm to newborns.

In their article, Tarini and her colleagues argue that instead of obtaining documented individual patient consent for some kinds of newborn screening research, the emphasis should be on finding effective ways of communicating with and educating families about newborn screening research, such as is possible through the use of brochures, Web sites and other materials. Further, follow-up for confirmation of a diagnosis, and counseling for genetic and social issues should be a requirement for such studies. Parents should always have the opportunity to opt-out of the research study if they choose.

“While a process to inform parents about testing should exist, any approach to informing them about newborn screening research should emphasize communication and education, rather than documentation,” notes Tarini.

For example, she says waiving informed consent for proposed research on a newborn screening test for Pompe disease – a rare, inherited and often fatal disorder that causes severe muscle weakness, cardiac disease and respiratory failure – is justified.

She notes that this research meets the four criteria outlined by U.S. regulations to permit a waiver – minimal risk to those involved; preservation of the rights and welfare of the patient; the social value of the research outweighs the requirement of consent; and provides participants with additional pertinent information after participation. Plus, clinical evidence shows that newborn screening for Pompe disease will identify infants who will derive the most benefit from the FDA-approved therapy for the disease.

These criteria – not signed informed consent – are what ensure ethical research and allow for rigorous population-based research to be conducted, says Tarini.

“The goal should be to evaluate new tests in an ethical manner that protects and respects both parents and children,” says Tarini. “Without a broader interpretation of these research regulations for promising newborn screening tests, we may create incentives for the adoption of inadequately evaluated tests.”

Tarini’s co-authors for this article are from the University of Washington: Wylie Burke, M.D., Ph.D.; C. Ronald Scott, M.D.; and Benjamin S. Wilfond, M.D.

This work was supported in part by a grant from the National Human Genome Research Institute, and the National Institute of Child Health and Human Development.

Reference: American Journal of Medical Genetics, Vol.148C, Issue 1.

Written by: Krista Hopson


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