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In the News | July 27, 2005

Delegata Project at DHS gains review with Sacramento Bee

Boosting Tests for Babies: New Law requires Genetic Screening
for newborns for a variety of illnesses

Newborns throughout the state will be screened for 75 inherited and congenital disorders, the result of a new law that takes effect Monday.

Undetected, the rare disorders can cause devastating disabilities, including mental retardation or sudden death. If caught quickly, all the disorders are treatable.

Even changes in an infant's diet can mean the difference for a child between a normal life and early death.

While the new law is expected to identify as many as 100 babies per year with serious genetic disorders that would otherwise have gone undetected, doctors predict it also will cause anxiety among parents. That's because about 90 percent of the estimated 200 tests that come back positive the first time later turn out in subsequent tests to be negative.

"When it's negative, they might wonder why we put them through the wringer," said Dr. Marphand Eswara, a geneticist at Sutter Memorial Hospital who runs one of the state's designated special care centers for children who test positive.

"But in the context of the children who are in fact saved, I think it is fairly widely accepted that this is the reasonable thing to do."

The March of Dimes, the national organization that works to prevent birth defects, needs no convincing.

Dani Montague, director of the California chapter of the organization, said a March of Dimes analysis of newborn genetic screening rates around the country released earlier this month found that California had one of the lowest genetic test rates in the country.

"We have now gone from one of the worst states to one of the best," she announced at a news conference at the Capitol on Tuesday to launch the program. "California is now leading the way."

The law represents the evolution of a program that began in 1966 when newborns were screened for phenylketonuria, or PKU, a disease in which babies cannot eat foods high in protein such as milk, meat, eggs and cheese.

The program grew in later years to include many other genetic diseases including congenital hypothyroidism, galactosemia and sickle cell disease.

An 18-month pilot program launched in 2002 to further expand screening detected genetic problems in 52 babies born at participating hospitals throughout the state.

Success of that test led to legislation, adopted last year, to make the expanded screening mandatory. Only families with religious objections to the testing can opt out of the screening.

One of those hospitals participating in the pilot program was the Santa Monica-UCLA Medical Center, where Gianna Swift was born 21/2 years ago.

After a nurse at the hospital insisted the family take advantage of the screening, which involves getting a drop of blood from the infant's heel, David and Lori Swift agreed.

Five days later, the Swifts were told that the test indicated a possible problem.

A UCLA geneticist, consulted for further testing, told the couple it was likely a "false-positive" result.

A day later, however, the Swifts received another call. The news was devastating.

Gianna was diagnosed with 3MCC, a genetic metabolic disorder involving her body's ability to process protein.

"Had Gianna not been born during the pilot project, she probably wouldn't be alive today," David Swift said at the news conference.

Today, the very lively Gianna is on a restricted diet, prohibited from eating anything with protein except for a special baby formula. She can't eat meat, cheese, fish, nuts or even soy products. "She eats lots of fruits, vegetables, pastas and rice," her father said.

The $78 test will be given to an estimated 550,000 newborns in California each year, about half of whom will be covered under Medi-Cal, the state's insurance program for the poor and disabled.

State health officials said private health plans are expected to pick up the cost of the test for children covered by insurance.

The budget for the entire program, including the newborn and prenatal genetic testing programs, laboratory work and follow-up centers, is $80 million per year, said Catherine Camacho, deputy director of the state Department of Health Services' Primary Care and Family Health Division.

Kim Belshe, secretary of the state Health and Human Services Agency, said the expenditures will save money and lives.

Caring for a mentally retarded person can cost up to $1 million during that person's lifetime, she said.

"With testing, we can avoid these costs, and more importantly, the human suffering they represent," she said.

David Swift can attest to that. "We have a happy, healthy, mildly disruptive child," he said, noting his daughter's rambunctiousness during the news conference. "This is a great day for California. This test is the gift of life."

Disorders found in newborns

The state's newborn screening test can detect dozens of metabolic, endocrine and hemoglobin diseases including:

• Phenylketonuria - Babies have problems when they eat foods high in protein and can develop mental retardation or other health problems without a special diet.
• Galactosemia - Babies cannot use some of the sugars in milk, formula, breast milk and other foods; they can become very sick and die without treatment.
• Maple syrup urine disease - Babies have problems using fats and protein; they can become mentally retarded or die without treatment.
• Medium-chain acyl-CoA dehydrogenase deficiency - Babies are unable to convert fat into energy. They can have seizures, extreme sleepiness or coma and even die without treatment.
• Homocystinuria - Babies have problems breaking down protein. Babies can have delayed development, eye problems and other health problems without treatment.
• Congenital adrenal hyperplasia - Babies' adrenal glands do not make enough cortisol, a stress-fighting hormone; many also do not produce enough aldosterone, a salt-retaining hormone. Babies can develop dehydration or shock and can die without treatment.
• Primary congenital hypothyroidism - Babies do not have enough thyroid hormone. Babies grow very slowly and have mental retardation.
• Sickle cell diseases - Babies can get very sick and die from common infections without close monitoring.
• Hemoglobin H disease - Babies have less hemoglobin in their blood, resulting in smaller red blood cells and cell breakdown. Without treatment, babies can have anemia and other problems.

About Delegata

Delegata is a premier consulting and systems integration firm. Specializing in Project Management, Technology Planning and Analysis, Application Development, Package Integration, and Process Alignment, Delegata delivers Award Winning Total Solutions to its clients. The firm’s comprehensive approach addresses business objectives and processes by leveraging broad implementation skills and multifaceted project management and technology expertise. Delegata’s solutions facilitate a client’s rapid transition to new technologies and processes while leveraging current investments. Utilizing strong industry acumen and its configurable Diamond Methodology, Delegata begins with client business objectives, aligns technology components, and delivers tightly integrated Total Solutions tailored to its clients’ unique environments. Visit Delegata’s website at www.delegata.com.

About GDB/DHS

The Genetic Disease Branch of the California Department of Health Services works to protect and improve the health of all Californians. It runs the largest screening program in the world and sets the standard in delivering high-quality, cost-effective genetic services to all Californians. The mission of the Genetic Disease Branch is "To serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders." Visit GDB’s website at www.dhs.ca.gov/pcfh/gdb/gdbindex.htm.

Article Credit

Copyright 2005 The Sacramento Bee
Record Number: SAC_0405006685

The Sacramento Bee
Dorsey Griffith
Bee Medical Writer
(916) 321-1089 or dgriffith@sacbee.com

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