Should babies be screened for untreatable diseases?

NEW YORK Thu Jun 2, 2011 12:35pm EDT

A nurse takes care of newborn babies at a hospital in Hefei, Anhui province April 21, 2011. REUTERS/Stringer

A nurse takes care of newborn babies at a hospital in Hefei, Anhui province April 21, 2011.

Credit: Reuters/Stringer

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NEW YORK (Reuters Health) - A new poll shows parents are split over whether their newborns should be screened for fragile X syndrome, the most common type of inherited mental disability.

The findings fuel an ongoing debate over which conditions should be part of mandatory newborn screening programs in the U.S.

Fragile X syndrome, or FXS, brings the debate into sharp focus, because there is currently no cure for the condition. What's more, not all kids with the gene mutation that causes FXS will have disabilities, so parents may end up worrying unnecessarily.

On the other hand, affected families may find it easier to prepare for their kids' special needs if they know about them early on. Currently, FXS isn't diagnosed until the child is at least three years old.

About one in 4,000 boys and one in 6,000 girls are born with the full mutation, which means they're likely to have problems related to FXS. The disease is less common in girls because the gene is located on the X chromosome (the female sex chromosome).

For the new survey, published in the journal Pediatrics, researchers approached more than 2,000 new mothers at University of North Carolina Hospitals.

They asked the women and their partners if they wanted to have their newborn screened and to write down the reason for their answer.

Slightly less than two-thirds of the couples said yes, according to Debra Skinner of the University of North Carolina at Chapel Hill and colleagues.

Most of the mothers who accepted the test said they wanted to know about their child's prospects, and the earlier the better. But many also said they agreed out of a wish to support research, hinting they might have misunderstood the purpose of the poll.

Of those who declined, about a fifth said they preferred not to worry about the results. A similar proportion said they didn't like testing children or genetic testing in general, and somewhat fewer said they just didn't want to know.

As one mother put it, "Knowing can cause anxiety. The chances of it happening are very small; don't know how it will unfold. Not knowing will not make you treat your child a certain way."

Black mothers were about half as likely as white or Hispanic mothers to want to screen their baby.

"This may be due to mistrust rising from the historical legacy of medical and genetic research in the United States with blacks," the researchers write, "or to a different valuing of the benefits and risks of screening."

The mandatory newborn screening program was first proposed by the American College of Medical Genetics in 2006. It included 29 "core" conditions, such as cystic fibrosis lung disease and phenylketonuria, a metabolic disorder that, untreated, leaves kids severely retarded.

But the group did not recommend screening for FXS, largely because the test was too expensive back then and didn't lead to clear benefits.

However, the price has recently changed dramatically, plummeting from hundreds of dollars to less than $10 per test.

Yet experts say FXS is not like the conditions that are currently part of the newborn screening program, because it has no cure.

The test also identifies carriers of less-severe versions of the mutations, who might or might not develop problems, as well as people who don't have noticeable symptoms despite harboring the full mutation.

In an editorial, Dr. Jeffrey Botkin of the University of Utah in Salt Lake City notes that "the potential benefits and risks associated with FXS screening are complex, subtle, and subjective."

Instead of treating the condition as a public health problem that requires mandatory screening, he suggests screening for the disease might make more sense in the doctor's office during well-child visits.

SOURCE: bit.ly/iXlYWB Pediatrics, online May 29, 2011.

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Comments (3)
gpro22 wrote:
Sorry, but this is not a very well researched article. First, you call it cystic fibrosis lung disease. While CF can lead to lung disease this is just one of many complications that arise from the disease which effects numerous organs in the body.

Second, I don’t understand the following part of the article:

“Yet experts say FXS is not like the conditions that are currently part of the newborn screening program, because it has no cure.”

Cystic fibrosis is part of the screening program and currently has no cure. They are working hard to find one and have medications in development (VX 770, 809 and 661) that are aimed at the basic defect, and there are other medications that help with symptoms, but there is no cure.

As a father of a 3 year old with CF, it upsets me when the press, especially very popular outlets such as Rueters, misrepresents what CF is and making it sound like there is a cure. There are millions of people fundraising so a cure can be found and we are always looking for more donors and supporters. If people think there is already a cure they will be less likely to join in the CF fight to find one.

Please research facts before writing articles like this.

Jun 02, 2011 1:40pm EDT  --  Report as abuse
you8ittoo wrote:
Most mothers would also like to have their babies tested for Kuru or River Blindness as well if they were asked.

Jun 02, 2011 1:47pm EDT  --  Report as abuse
LindaJoyAdams wrote:
Yes,with parental permission; but what is now considered incurable, may soon be treatable and cured. Early detection and treatments must be available. If we care so little about life, then what is the purpose of our very creation? There is a groing ‘beleif’ that if one is old or sick, then one is ‘ worthless.’ The premise of no cures ever is giving up on our own health care and will to live. Linda Joy Adams

Jun 02, 2011 4:19pm EDT  --  Report as abuse
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