Newborn blood sample screening has been going on for decades, but ethical considerations have evolved in recent years, and this is changing research informed consent. For instance, the public has learned that researchers sometimes use the samples for studies, and some parents are alarmed at the collection of genetic material as whole-genome sequencing has moved from science fiction to fact.
In the 52 years since the publication of a test using dried blood spots to screen children for phenylketonuria (PKU), nearly every U.S. newborn has undergone the screening.1
The Newborn Screening Saves Lives Reauthorization Act of 2014, which became public law on Dec. 18, 2014, makes this important change: “...requires federally funded research on newborn dried blood spots to be considered research on human subjects (which requires the informed consent of the subject), and eliminates the ability of an institutional review board to waive informed consent requirements for research on newborn dried blood spots.”2
Now the question for IRBs and others is how to retain newborn screening and make even better public health use — including research — of the collected samples while obtaining informed consent.
Ethical considerations are even more topical in light of recent lawsuits where parents sued the Texas Department of State Health Services and Texas A&M University System for failing to ask parents for permission to store and possibly use their newborns’ blood samples. As a result of the lawsuit, filed by the Texas Civil Rights Project, Texas health authorities destroyed more than five million blood samples taken from babies without parental consent. Going forward, the state needed to obtain parental consent before the samples could be collected, stored, and used for research.3
A similar lawsuit in Minnesota also succeeded. The chief issue was the ownership of newborn DNA and parental informed consent, according to the ACLU.4
The lawsuits and informed consent changes regarding tissue samples are what prompted some researchers to study the effectiveness of a simplified, electronic informed consent process for parents of newborns.
“Four million babies undergo screening in the U.S. without informed consent, with the exception of a few states,” says Erin Rothwell, PhD, associate professor of research in the division of medical ethics and humanities, college of nursing at the University of Utah in Salt Lake City.
“We wanted to do a pilot study within an ongoing randomized control trial about the role of electronic consent at one Utah site,” Rothwell adds.5
The idea was to see if electronic informed consent, which can easily be administered to large numbers of participants, could work ethically and effectively in a research setting.
Rothwell and co-investigators assessed an electronic informed consent model in a pilot study that randomly assigned participants to either an electronic IC or a simplified paper-based consent group.5
“We’d have people watch a video about newborn screening and genetics and then assess their attitude after they’ve had their baby, to see if it negatively affected the program,” Rothwell says.
“We found that the video was quite effective as a consent process when compared with the simplified paper-based consent process,” Rothwell notes.
But investigators also found that in some cases, a hybrid approach to IC that includes electronic and paper-based consent would work best.5
“From our pilot data, we submitted a [research grant request] to the National Institutes of Health to test electronic informed consent in three different Michigan hospitals,” Rothwell says. “We hope to streamline the electronic consent process, and we’re very excited about it.”
Their proposed study was still pending as of late June 2015.
The goal is to demonstrate to researchers, IRBs, and sponsors an IC model that could work both ethically and pragmatically with biospecimen collection, she adds.
“Consent does take time and a lot of resources,” Rothwell says. “And with studies involving biospecimens, it’s a very low risk; there is no known case where there has been actual harm to an individual for using their leftover tissue.”
With the IC requirement in the newborn screening act, and with the very real possibility that the Common Rule also will be changed to expand the definition of human subjects, some kind of streamlined IC process is necessary, she adds.
“The big thing we’re trying to do is streamline the consent process and figure out what is the adequate amount of information someone needs to know to make an informed decision of whether to participate or not,” Rothwell says. “That’s what sparked my interest in it: How can we engage people and capture attention so that if they find out a researcher is using their blood sample, they’ll know what’s going on?”
One potential solution is the use of a five-minute video based on a simplified consent form.
“The people who watch it have to decide whether or not they want to agree,” Rothwell says. “For a potential randomized control trial in the state of Michigan, we’ll include the video, which can be watched on someone’s mobile phone.”
Once they see the video, participants can sign the electronic IC.
Michigan already has in place, in most hospitals, an informed consent process for newborn blood screening. “But they’re only getting a 60% uptake rate, which is why we’re focusing on informed consent within the clinical and research setting,” Rothwell explains.
The rate is lower than desired because new moms often leave the hospital before they can be asked to sign the IC form, and there isn’t enough manpower at hospitals to track them down once they leave, she adds.
“Clinical staff has to give new parents a brochure and have to return to them to have them sign a form,” Rothwell says. “With the competing health demands of a new baby, that can be difficult.”
The proportion of parents who refuse to allow their newborn’s sample to be used in research is fairly low, but many more parents are simply lost to follow-up. “We’re missing a big chunk of the population, and we’re trying to figure out how to improve the consent process,” she says.
Also, researchers are considering trying different ways to reach people for IC, including using emails and text messages.
“We’ve reached a point where a lot of our population has smartphones,” Rothwell notes.
- Tarini BA, Goldenberg AJ. Ethical issues with newborn screening in the Genomics Era. Annu Rev Genomics Hum Genet. 2012;13:381-393.
- H.R. 1281. Newborn Screening Saves Lives Reauthorization Act of 2014. 113th Congress. Available online: https://www.congress.gov/bill/113th-congress/house-bill/1281.
- Root J. Texas officials agree to destroy babies’ blood samples after settling lawsuit. Dallas Morning News. Feb. 14, 2010. http://bit.ly/1Ioks5b.
- Brase T. Parents and children deserve genetic privacy. US News. April 28, 2014. http://bit.ly/1GIlpj1.
- Rothwell E, Wong B, Rose NC, et al. A randomized controlled trial of an electronic informed consent process. Elec Proc in Research Admin. 2014;9(5):1-7.