Pros, Cons of Newborn Genetic Screening

In nearly all states, screening newborn babies for genetic diseases is mandatory. The tests allow parents to intervene early if their child has one of nearly 30 chronic illnesses, and, sometimes, the interventions can be life saving.

In other cases, though, the tests identify a genetic abnormality that is ambiguous. The child may simply carry a mutation that never leads to symptoms of a disease or the abnormality found may not point to a specific, treatable condition.

“We don’t always get a definitive answer” from newborn screening, said Dr. William Wilcox, the director of the Metabolic Disorders Clinic at Cedars-Sinai. “Even if we are able to make a diagnosis of what the child has, it doesn’t mean it has any consequences — it may imply a risk for something that is fairly low.”

For families who receive such uncertain results, newborn screening can set in motion a state of limbo that can last for weeks, months or even years, as they wait and watch to see whether their child will become ill.

In a recent study, published in December in the Journal of Health and Social Behavior, researchers Stefan Timmermans and Mara Buchbinder from UCLA’s department of sociology, examined the emotional effects of these unclear outcomes, and ultimately dubbed the families and babies “patients-in-waiting.”

The study states that “the major issue facing a newborn patient-in-waiting is not only whether he or she will develop a disease but also what the condition actually is.” 

Although requirements for newborn screening vary from state to state, most mandate that newborns be tested for between 20 and 30 diseases, including congenital phenylketonuria, or PKU, congenital hypothyroidism, sickle cell disease and cystic fibrosis. While still voluntary, testing for Jewish genetic diseases includes Tay-Sachs, Gaucher, Niemann-Pick and familial dysautonomia.

Babies are generally tested within 48 hours of being born, using a blood sample taken from the heel. In California, the sample is then sent to a laboratory that is contracted with the state.

The tests screen for abnormal levels of biochemicals in the infant’s body, and, in the event of a positive test result, the child is sent to a clinic or private physician for follow-up testing.

Nearly 90 percent of families who get a positive test result from newborn screening find out that they had a false positive, according to the study.

For the remaining 10 percent, a long road of medical visits and worrying may lie ahead.

For the study, Timmermans and Buchbinder followed 55 families that received positive test results from newborn screening for two years.

Most families were shocked by the results — some didn’t even know that screening was being conducted on their infants. 

“I think there is a lot of misinformation about the whole hospital experience,” said Gabrielle Kaufman, who runs a program for new mothers at Jewish Family Service of Los Angeles, “and the [newborn] screening is part of that.”

This lack of knowledge contributed to the surprise and devastation those families felt upon getting positive test results. Compounding that reaction was the fact that many had received normal test results throughout their pregnancy.

One study participant is quoted as saying that “all of our ultrasounds were really, really good … and so we were unconcerned about any of the genetic stuff.”

The stress caused by finding out that a child is at risk for what could be a major disorder can wreak havoc on parents’ emotional health, Kaufman says.

“People will find out that there’s something possibly wrong with their baby,” she said, “and just the anxiety of feeling like they’re constantly waiting for the other shoe to drop is a lot to sustain.”

She cites women who have been thrown into depression, and couples whose marriages have been strained by the news.

With an uncertain diagnosis, doctors will often instruct parents to treat the child as if they already have the condition for which they’re at risk, making specific diets, sleep schedules and lifestyle changes as precautionary measures while confirmative tests are being run.

According to the study, though, the messages received by parents from medical providers regarding how long they will have to wait to find out what’s wrong with their child, and what they should be doing in the meantime, can be ambiguous.

They may be told to watch for the child to meet certain developmental milestones, but those are often vague. Or, they may be told not to worry, while simultaneously being told to be vigilant in taking precautions.

For many parents, the ambiguity can mean that their hypervigilance is almost impossible to give up, should they ultimately find that their child is healthy or at a low risk for developing serious symptoms of disease.

“Some people are reluctant to give up their precautions,” Wilcox said. But, he adds, “The older the kids get and the more normal they are, the less the parents worry.”

And indeed, if children continue to develop without showing signs of illness, it’s often a sign to medical providers that their initial test results were nothing to worry about. Plus, the older children get without any symptoms, the less likely it is that they will develop severe symptoms that will inhibit their daily life.

Still, many parents may never hear the one answer that they’re looking for: that their child is completely out of the woods. Or, according to the study, “The geneticist does not unequivocally state that the child is ‘disease free.’ ”

Nevertheless, Wilcox says, the benefits of newborn screening far outweigh the risks or the discomfort that parents may feel.

“Overall,” he said, “the successes of newborn screening are enormous. It’s saved a lot of kids’ lives.”

Bundles of Joy

The stork has been awfully busy lately.

It seems as though everyone I know is having a baby. A couple I haven’t heard from in months sent a postcard with a picture of what I thought was a Sharpei puppy — it turns out the little boy’s name is Jesse. I didn’t even know they were expecting.

Of course, in the bargain, I’ve lost all my friends. They’re no fun any more. They’re very busy doing not very much. They can’t go anywhere, especially if they’ve got more than one child. When they do get out of the house it’s all they can talk about and, honestly, there isn’t that much to say about a little baby. You see these people with the 1,000-yard stare at Blockbuster, returning the overdue videos they haven’t had time to watch, despite the fact they’ve been home every night for months.

I’ve been to visit a lot of these babies. I don’t understand how The Gap can be in a sales slump with all the baby gifts I’m buying. If you’re not one of the parents, there’s not much for you to do. You look the kid over, rain praise on its incredible good looks, hold it long enough until it emits some vile fluid or hurts itself, and then you hand it back to its owner to mop up. It’s like a slow, sloppy game of “hot potato.”

A visit to a newborn should take an hour at most, by the end of which time you will have determined if the child looks more like the mother, the father, Winston Churchill or Lyndon Johnson. That important business concluded, you’re free to leave these people behind and do whatever you want. Going to “see the baby” is a lot like going to see a convicted felon.

I have a single friend named Gina, who is determined to have a child in the next year. Gina has also decided that she doesn’t need a man’s help in getting the job done. Not much, anyway. She’s come to the conclusion that, at age 35 with no “significant other” in her life, she’ll get the baby thing out of her system so she can get on with her life. She doesn’t want the pressure of having to rope some guy, get married and then hurry up to have a child. She reasons that men run from the scent of desperation, and maybe she’s right. You might argue that two parents are better than one, but where’s poppa when you need him? She’s got a gay donor-daddy and an eminent fertility doctor — and they’ll do just as well in a pinch.

I’ve heard stories from the old days about young women getting pregnant and leaving town, going to stay with a relative until the baby was born. There was a time when being a single mother was a shonda. Not now. At some point, having the fellow around is basically a nuisance. Meanwhile, Gina’s family has rallied around her with unbridled support, beaming grandparents-to-be waiting for the fatherless child.

So here’s the rub: I want a child. My biological daddy clock is happily ticking away with no sign of wearing out. The warranty is still good for another several years, but suddenly the snooze alarm is broken. I’m not exactly hanging around schoolyards getting all misty, but the idea is getting more and more appealing to me. I’d prefer one that already walks and talks, but I understand they don’t come that way direct from the factory.

Now I want diapers and runny noses and little, bitty clothes and brightly colored toys and big books by Dr. Seuss and one of those walker things in the kitchen. I want to get woken up at ungodly hours and struggle with a baby seat, and I want to call a pediatrician “just to be safe.” I also want my friends back. None of their behavior will seem nearly as odd when I’m in the same boat with them.

Incredibly, it seems, I’m going to have to get a woman involved somewhere in the process. I feel like Frank Sinatra in my best pressed tweeds: All I really need is the girl.

J.D. Smith is expecting @