The Consequences of Newborn Genetic Screening

State-mandated genetic screening for newborn babies is a subject that brings about both controversy and confusion from doctors and parents alike as nearly 4.1 million newborns are screened every year for more than 50 rare genetic disorders. This Wednesday, February 20, at 8 p.m., Stefan Timmermans will present information and stories from his new book, Saving Babies? The Consequences of Newborn Genetic Screening in Harold Frank Hall at UCSB.

Timmermans, a UCLA department chair and professor of sociology, studied the outcomes of newborn genetic screenings in the United States from 2007 to 2010, hoping to “reveal all the good things that come out of it,” only to encounter issues with potential false positives and confused doctors and parents. Screenings allow doctors to diagnose genetic and metabolic disorders in children in hope of preventing “severe disability, mental retardation or even death,” according to the National Conference of State Legislatures website.

In an interview with Timmermans before his talk, he described how he became involved with researching newborn genetic screening, his hopes for his newly published book on the subject, and the desire to spread greater awareness on this complicated topic.

When did your interest in newborn genetic screening begin? I’ve been doing a lot of studies on death and dying, and I thought maybe it’s time to do something happier, something more fun, and something at the beginning of life. So that’s how I ended up in newborn screening. It really seems like such an amazingly good program, and so I thought I was going to reveal all the good things that come out of it. I went in thinking it was is going to be the counterpart to all the sadness and the grief that I studied in the other projects.

What made you decide to publish a book on this subject? We just had a really interesting story here. Newborn screening is heralded as a really easy, cheap technology to save newborns’ lives. But we found in our research all of these families being extraordinarily confused, and not just the families but also the clinicians being extraordinarily confused about what these results meant and trying to figure out whether the child was really sick or whether there might have been a false positive [in the results]. So once we realized this was actually a big story, we decided to turn it into a book.

Were you surprised by the negative consequences of the screenings that you ran into? It’s very difficult for a parent who has a newborn that looks perfect and does everything a newborn is supposed to be doing [to hear someone say], “Your child might have a rare genetic condition.” It throws off the entire family dynamic, and people tend to take that very seriously because many of them have taken particular kinds of preventive measures during pregnancy, and here they are being told that there might be a problem. So it’s quite upsetting to them. The idea behind it is that we can identify kids right at birth and do preventive measures. But you’re going to find many other babies that may have some indications of disease, but they might never develop symptoms. You still pick them up through the screening program, so the question is what to do with these babies.

And how do you cover this in your book? The book is about how families and doctors try to make sense of results that in some cases are obviously true positives and how in other cases they are very quick to find out they are false positives. But then there is this group that is in a grey area where the baby doesn’t really look like a patient, but the newborn screening results suggest that there’s a problem. It’s a very difficult kind of dilemma to resolve, especially because these diseases are very rare, because they don’t have hundreds of other babies that you can doublecheck with to see. We are social scientists, so we are interested in how people did resolve these kinds of dilemmas.

What do you hope to achieve through the publishing of this book? My immediate hope is to articulate some of the voices that are left out of the policy debate. The policy debates are dominated by parent activists who have lost a child, and they have latched onto screening as the solution for other parents to avoid the kind of tragedy they personally experienced. And so it’s very powerful. We are not against screening programs. Screening programs do save lives, but they do also have other effects. They affect parents very deeply in ways that make them the collateral damage of these screening programs. We want to bring that perspective into the open — not to take away from those parents who have undergone these tragedies but to just add another voice. We want people to ask the difficult questions: What is the bottom line here? What did we achieve in terms of health outcomes? Then we have to have a discussion about if it’s worth it or not. I think we will come to the conclusion that it is worth it, but we need better information about it, about the full range of effects that newborn screening has.

How do you plan to discuss this subject with your audience at UCSB? I will give the presentation through the stories of families that we have seen in our study and how they handled the news that their newborn had a positive screen. It’s more of a story-based way of trying to bring it to light and show how people react in the moment. One of the goals of the book is to bring other voices to the policy debate, and we really want to bring that to the presentation. I also want to historically situate how we actually ended up with this newborn screening program. I want to show people that that there are other people like them.