New York state expands newborn screening program

Thursday, October 28th 2004, 9:46 am

By: News On 6

ALBANY, N.Y. (AP) _ Babies born in New York would be required to undergo testing for 44 genetic diseases, more than any other state that offers free newborn screening programs, New York officials announced Wednesday.

New York infants are currently screened for 11 inherited and sometimes life-threatening disorders including cystic fibrosis, sickle cell anemia and phenylketonuria.

Under the expanded program, the number of diseases tested in newborns would quadruple in 2005. Twenty diseases would be added to the list of 11 by the end of this year and an extra 13 by spring 2005.

The New York state Health Department operates the $6 million a year newborn screening program in which a drop of blood is drawn from newborns and sent to the department's Wadsworth Center in Albany for analysis. Early diagnosis and prompt treatment shortly after birth can usually prevent mental retardation and other complications later on.

Mandatory testing for genetic diseases in newborns varies greatly from state to state. Last month, a federal advisory committee recommended that states test newborns for 30 rare inherited diseases.

Iowa, Mississippi and North Dakota are among the top three states that test between 38 and 43 inherited illnesses in newborns, according to the National Newborn Screening and Genetics Resource Center in Austin, Texas.

Several states in recent months have moved to increase the number of newborn screenings. In August, Ohio mandated that babies be tested for 30 genetic disorders, up from 13.

New York is among several states that use new technology called tandem mass spectrometry, which takes a single drop of blood to screen for at least 20 diseases. New York is one of few states that tests for HIV exposure in newborns, while other states test for HIV prenatally.

Jill Fisch, of Scarsdale, said her son Matthew is developmentally delayed because of the genetic condition called SCAD, where the body is unable to oxidize some fatty acids, which was treatable but undiagnosed for more than two years. ``We've been working on this a very long time,'' she said of the new screening.

New York expanded its program under the direction of Gov. George Pataki and after lobbying by Fisch and other advocates, including Hunter's Hope Foundation, started by former Buffalo Bills quarterback Jim Kelly, whose son Hunter was diagnosed in 1997 with Krabbe disease, a progressive disorder of the nervous system.

``This is something we have been working very hard at,'' said Jacque Waggoner, foundation chairwoman and Hunter's grandmother. ``It's something near and dear to my heart and to my family's heart.''

Waggoner said if Hunter had been detected with the disease at birth, he could have undergone umbilical cord blood transplants as other Krabbe children have done.

Krabbe disease was not added to New York's screening list. The state is working on a pilot program to perfect a test to screen for Krabbe.