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Originally published Saturday, July 26, 2008 at 12:00 AM

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Newborns to be tested for 14 more genetic disorders

Starting this week, Washington newborns will be tested for 14 more metabolic disorders, bringing the total to 24. One more will be added in about a month.

Seattle Times health reporter

For more information on newborn screening:

A list of new and old tests: www.doh.wa.gov/EHSPHL/PHL/Newborn/default.htm

Washington State Board of Health newborn screening: www.sboh.wa.gov/Goals/HealthyBehaviors/NewbornScreening/index.htm

Since 1977, newborns in Washington have had a few drops of blood drawn from their heels to test for serious congenital disorders that can often be lessened or prevented by prompt treatment.

Starting this week, babies will be tested for 14 more metabolic disorders, bringing the total to 24. One more will be added in about a month.

Many parents know their babies will be tested for phenylketonuria, also known as PKU, a protein-processing disorder that can cause mental impairment if babies aren't given a special diet.

Over the years, nine other disorders have been added to the mandatory test. Most require early treatment or are serious enough that parents need to be alerted, as with sickle-cell disease.

Some other states test for twice as many disorders, said pediatric-health experts, many of whom gathered for a conference in Seattle this week about controversies in genetic testing of children. The conference was sponsored by the Treuman Katz Center for Pediatric Bioethics at Children's Hospital & Regional Medical Center.

Testing for genetic conditions is controversial because while some argue that testing in some cases prevents future complications, others believe it's wrong to test for a disorder if there is no effective treatment. In most states, including Washington, the tests are required, and parents are not given "informed consent," a standard for most medical treatment or participation in research.

Some ethicists argue that if a disorder has no treatment, then a test is really "research," and parents should have to consent.

In addition, "false positives" sometimes have resulted in children being given special treatment that may harm those who don't have the disorder.

In other cases, parents are told their child has a milder form of a genetic anomaly when it's not known whether that will result in a disorder.

In Washington, the state Board of Health considered a number of factors in deciding which disorders to add to the list, including whether early identification of the condition was clearly beneficial to the newborn; whether there was effective screening, diagnosis and treatment available; whether the condition was sufficiently prevalent to justify population screening; and whether tests were accurate.

Many medical providers noted that screening is just the beginning of a long process that can include discussions with doctors and genetic counselors as well as treatment — in some cases, a lifelong special diet.

Last year, the state health department did 2.4 million tests on 83,000 newborns, and found a total of 101 infants with one of the conditions on the screening list. The work is supported by a fee of about $64 for each baby screened.

Carol M. Ostrom: 206-464-2249 or costrom@seattletimes.com

Copyright © 2008 The Seattle Times Company

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