More active consent for newborn screenings?
Ethicist argues that newer screenings are research
Nearly every baby born in the United States undergoes a simple heel-stick in the first few days of life that has potentially profound health implications for his or her life.
Through this blood test, babies are screened for a variety of rare metabolic, endocrine and other conditions that, left undiagnosed, could lead to disability or even death. The advent of new technologies has made it possible to test this small amount of blood for a growing array of conditions.
Among the common conditions screened for are phenylketonuria (PKU), which can lead to brain damage if untreated, and sickle cell anemia, where early treatment with antibiotics can be extremely beneficial.
At the U.S. Department of Health and Human Services, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children has developed a uniform screening panel of recommended conditions that should be included in state screenings.
However, some ethicists are concerned that the mandatory newborn screening (parents have limited opt-out exceptions in a few states) is expanding in some states to include conditions that are not as well understood and for which treatment options aren't necessarily clear cut.
In the case of these newer conditions, the screening program is in essence more like research, and should be treated as research — complete with informed consent and IRB oversight, they say.
Lainie Friedman Ross, MD, PhD, a professor of clinical ethics and pediatrics at the University of Chicago, points to the example of Krabbe disease, a rare genetic disorder whose infantile-onset form can be fatal. Bone marrow transplantation can sometimes slow the progress of the condition if done early enough.
However, Ross says that when the state of New York added Krabbe disease to its roster of newborn screening conditions, it became clear that doctors don't know as much as they thought about how the condition progresses and when treatment is advisable.
"When they started, they expected that 90% of the children who they diagnosed as high-risk would go on to develop Krabbe's within one year of life," Ross says. "It turns out the answer is closer to 5% are early onset and 95%, we don't know. We don't know if they'll present as adults, we don't know if they'll ever present."
In the meantime, she says, a positive result for a condition raises concerns for parents and requires that children be tracked to see how they progress.
"It's really hard to say to parents, 'We did this [screening] without your permission and now we want to follow your children,'" Ross says. "That's research, and the idea of doing it without parental permission is conscripting children into research. And we don't do that for any other group of research subjects."
Ross wrote about this topic in a recent issue of The Journal of Pediatrics.1
Dealing with uncertainty
Krabbe disease is one of a number of lysosomal storage diseases (LSDs) that affect the body's ability to rid cells of waste material. Despite the uncertainty around many of these diseases — how they progress, whether they will present with symptoms in infancy or later and what treatments are most effective — groups are lobbying to add them to the newborn screening programs in more states.
In Ross' home state of Illinois, advocates, many of them parents of children with LSDs, successfully lobbied the state legislature to add seven LSDs to the screening list, sidestepping an expert advisory committee which generally makes those decisions.
Ross, who is a member of that committee but does not speak for it, says one of the LSD conditions added through legislation is Niemann-Pick disease, "for which we don't even have a screening test that's verifiable and valid."
She proposes that instead of adding these types of conditions to mandatory screenings, states should offer two tiers of screenings:
– one tier that includes conditions where there are established treatments and a strong consensus about when patients should be treated, such as PKU and sickle cell anemia. Ross says this array of tests could be mandatory, although she would prefer a strong recommendation in favor of screening with the right of parents to opt-out.
– a second tier would include lesser-understood conditions that lack consensus about when and how to treat. They would be offered to parents through an IRB-approved protocol with an informed consent that would explain the potential benefits and risks of screening, including the possibility of anxiety caused by false positives or risks of treatments.
"Many of the treatments we're using are experimental — they may represent the current standard of care, but they're often not yet fully evidence-based because we don't really have a lot of experience — these are very rare conditions," Ross says. "It is possible that we're going to treat some people who may have remained asymptomatic for months to years. And some of the treatments are pretty aggressive."
This second tier of screening would require a more active consent from parents, she says.
IRB review
State public health department IRBs would be the logical boards to handle these protocols, weighing the risks of inclusion on the list with the potential benefits to children. Ross notes that it may be necessary for IRBs at individual birthing hospitals to review them as well.
"If you have a state where everyone's going to require their own review, it's going to be very time-consuming," she says. "There are a lot of hospitals where babies are born."
However, she argues, it's important to gain consent from parents and to inform them about the screenings being performed, as well as what would happen in the event of a positive result.
She notes that many mothers don't even realize that there are newborn screenings being conducted on their children.
"I adamantly encourage parents to have their children screened for conditions that are part of the uniform panel," Ross says. "And I think there's really valuable information that we can get for these expanded conditions.
"But I don't think we can say, 'You must agree to experimental expanded screening; we're not going to even tell you about it.' We must inform parents what we're doing."
She says that in the case of positive results, a research protocol would lay out how to give parents information about it.
"We would have people who are educated about these seven lysosomal storage diseases, who can explain to families that most likely this is going to be a false positive, that we still need to check it and most of all, that we're not going to abandon you," she says. "That's what parents really need to hear.
"They need that first phone call to be someone who can actually answer some questions."
Ross says she does not envision the standard multi-page boilerplate informed consent document for newborn screening research, and would favor instead having parents sign the back of the card on which the newborn blood spot is collected. Parents could be given an informational booklet to take home.
"That would minimize the impact on hospitals but still require parents to be involved," Ross says.
She acknowledges that conducting the expanded screenings as part of a research protocol would require more resources. "But ethically, it needs to be appropriately resourced, so that when a child is identified, parents understand what it means."
Reference
- Ross LF, Waggoner DJ. Parents: Critical stakeholders in expanding newborn screening. J Pediatr 2012 Sep;161(3):385-9.
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