Treatibility Of Disorders Should Not Be Criterion For Inclusion Of Screened Disorders

ATLANTA, GEORGIA, JANUARY 21, 2002 - Tandem mass spectrometry (MS/MS) has catapulted newborn screening into a new era of "screening ethics". In previous years, disorders were added to newborn screening panels when they met certain criteria. This criteria was noted in a August 2000 report by the American Academy of Pediatrics' Task Force on Newborn Screening (NBS) to be:

a) the condition is an important health problem that occurs frequently enough to justify screening an entire population

b) the treatment for the condition is effective when initiated early, accepted among health care professionals, and available to all screened newborns

c) the test is simple, safe, precise, validated and acceptable

The new ethical issue seen by some is that screening using MS/MS technology allows for identification of some disorders that may not necessarily be "treatable" in conventional terms of the word. There is currently national controversy over this issue. Some individuals feel one should not screen for a disorder that doesn't consistently respond to treatment. However, Save Babies Through Screening recommends that 55 disorders be screened on all babies born in the United States.

"These children will have these disorders whether screening is in place or not," says Save Babies Through Screening President Tera Mize. "Families deserve to know what is truly wrong with their children, and their physicians deserve an opportunity to try to help them."

Knowing that a child has a condition that may not respond consistently to treatment is important to families in a number of ways.

Families may choose to avoid having more children after having a child diagnosed with an untreatable inherited disorder. Without screening for these rare metabolic disorders, however, many infants die of unexplained causes, or are wrongly diagnosed with non-recurrent conditions. Parents are then advised that what was wrong with their child won't happen to future children they may have. With screening, parents are aware of the possibility of having more children with the disorder and can make educated family planning decisions.

Early identification also helps families avoid emotional torment and financial burden, which can stem from years of going from doctor to doctor trying to find out what is wrong with their child. Without screening, some affected children have incurred years of suffering from invasive procedures and families have incurred millions of dollars in costs for unnecessary medical tests to determine what is wrong with the child. Even if the disease doesn't have known treatment options, most parents are extremely gratified to know a diagnosis and spend their time searching for treatment for their child instead of just searching for a diagnosis.

Furthermore, additional knowledge of cases of these diseases will help physicians develop better treatments.

"Until we start identifying affected children through screening and giving the doctors an opportunity to intervene early, we won't have treatments," says Wendy Nawn, Vice President of Save Babies Through Screening. "In addition, gene defects are quite variable, or can be expressed in different patterns, thus the result is that in any given disorder there is a range of mild to very serious symptoms. Therefore, it can't be said with any certainty that a disorder is 100% untreatable. And I have never met a parent that would just let a child die if there was any chance he or she could live a normal, healthy life."

"In previous years, conditions such as cancer were thought to be untreatable, yet families were still afforded the courtesy of an accurate diagnosis," says Tera Mize, whose infant son died from a disorder detectable through newborn screening. "People with cancer survive the majority of the time because physicians were allowed the opportunity to learn to treat it.  It is time we learned more about "untreatable" disorders detectable through newborn screening and use this information to devise effective treatment plans. Families believe that these children deserve the opportunity to live normal, healthy lives as do children with diseases such as cancer."

Save Babies Through Screening recommends that all expectant families obtain supplemental screening for the disorders that are not routinely screened for in their state. Supplemental comprehensive screening can be obtained nationally from Neo Gen Screening (1-866-463-6436; www.neogenscreening.com).

Save Babies Through Screening is a non-profit volunteer advocacy organization whose mission is to improve the lives of babies by working to prevent disabilities and death resulting from disorders detectable through newborn screening. Save Babies Through Screening, is formerly known as the Tyler For Life Foundation, and is a leader in the national grass roots movement to expand newborn screening. Save Babies Through Screening is the only national non-profit health organization that recommends that every baby born in the United States receive screening for 55 disorders currently detectable through newborn screening. For more information, visit the Save Babies Through Screening website at www.savebabies.org or call toll-free at 1-888-4LIFE-83.

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