California now offers free genetic screening for as many as 30 rare genetic disorders, but some of the state's newborns may not get the test at birth because not every hospital has decided to offer it.

Unveiled this week by the state Department of Health Services, the program is designed as a medical research project to detect a range of diseases that, unless caught early and treated, can cause severe disability or death.

So far in the capital region, UC Davis and Kaiser hospitals have decided to participate in the pilot program. Mercy and Sutter hospitals are still evaluating the proposal.

The project expands -- at least for the next 12 to 18 months -- newborn screening in California. At present, screening is done to detect four genetic abnormalities, including galactosemia, phenylketonuria (PKU), congenital hypothyroidism and sickle cell disease.

The new program adds California to a handful of states taking advantage of advanced genetic testing technology. The tandem mass spectrometer, developed in the 1990s, can analyze about 30 metabolic disorders with a single dried blood sample.

The state could analyze as many as 400,000 blood samples this year, said Dr. George Cunningham, chief of the state Department of Health Services' genetic disease branch. He said he anticipates those tests will detect an additional 40 to 60 cases of genetic disorders in newborns.

The March of Dimes, which supports universal newborn screening, and physicians who treat children affected by these diseases are hailing the state's effort.

"We are talking about diseases that up until now we couldn't identify until the patient became symptomatic," said Dr. Mark Lipson, a pediatrician and geneticist with Kaiser Permanente in Sacramento. "Not infrequently, once that happens, the game is lost. By identifying them before they become symptomatic, we can help them lead a normal life."

The $3.9 million research project is being launched almost four years after the first bill to use the new technology was introduced in the Legislature. Concerns that the project signaled a new, costly mandate delayed and altered the scope of the project.

Jan Emerson of the California Healthcare Association, a hospital trade group, said that while the association opposed early drafts of the bill, it now fully supports the program.

"Hospitals were going to pay the cost of the additional screenings and would have to try to bill the patients," she said. "That becomes a financial loser for hospitals. ... We got the bill amended to resolve that concern."

In the end, the state agreed to make the supplemental test available at no additional cost. Insurance companies can be billed directly at a total cost of $56.

Lois Richardson, the health-care association's attorney, confirmed that some hospitals have already opted out of the new program, probably because of staffing constraints.

"We have bent over backward to make it as easy as possible for them to participate," said Cunningham. "It is going to be difficult to justify why one hospital is offering it and another one isn't."

Dr. Dan Ferguson, chief medical officer for Catholic Healthcare West in Northern California, cited concerns that the tests will produce a large number of false positives.

"What is being done to address the fears and the emotional impact on a family that is told the child may have a disorder?" he asked.

Ferguson said it is possible that after each hospital evaluates the research proposal, some CHW hospitals, including the Mercy facilities in Sacramento, will offer the tests while others won't.

Cunningham said just three out of 1,000 tests will produce a false positive result.

"One of the reasons we are doing this as a pilot is to fine-tune it so when we mandate it, we will have a minimal number of false positives," he said.

Parents who want to participate in the study will sign an informed consent form. In case of a positive result, they will be referred to one of the region's metabolic centers for further evaluation.

One of the disorders that can now be detected is called long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Like most people, Sirpa Waananen of Chico had never heard of the disease when her daughter, Nora, was born last March. The seemingly healthy baby scored well on all the newborn tests. "She was perfect. She was a very happy baby. She ate very well. She hardly ever cried. She smiled a lot," her mother said.

Then one day in early August, when Waananen, a flight attendant, had gone off to a mandatory FAA training session, she got the news that the baby was seriously ill and in the hospital.

"The whole way home I was crying and praying she'd be OK," she said. "By the time I got to the hospital, she was dead."

Metabolic testing later revealed that Nora had LCHAD deficiency; she had inherited the genetic disorder from both her parents, who unknowingly were carriers. Babies with LCHAD deficiency cannot break down fatty acids to make energy because of a missing or nonfunctional enzyme. Undiagnosed, the disorder causes a buildup of fat in essential organs and can lead to death.

Had the baby been screened for the disease, she would have been put on a special diet and possibly medication, and likely would have led a normal life.

Waananen talks about her daughter with a mixture of intense grief and anger. She is angry that the state had the technology to detect her daughter's disorder but it was not made available to her because of governmental haggling over cost concerns.

"It's terrible to think that my child's life is worth so little," she said.

The existing screenings uncover 200 to 300 genetic disorders every year, Cunningham said.

In 1994, one of those was in Cecilia Mercurio, a Rancho Cucamonga child who was born with PKU. Because of a genetic deficiency, babies with the disease can't break down an amino acid called phenylalanine, which in excessive amounts is toxic to the nervous system. Left untreated, the disorder causes severe mental retardation.

Doctors quickly put Cecilia on a diet that does not include foods with phenylalanine, such as meats, eggs, cheese and whole grains, and she has developed normally.

"She is now 7 and in second grade," said her mother, Mary Mercurio. "She is in Girl Scouts, tap and ballet, and she loves Pok鑝on. Because of her early diagnosis and treatment, you would not know the difference in my child unless you saw her eat."

Even if the state's major maternal care hospitals opt to offer the supplemental newborn screening, it remains to be seen whether it will continue to be offered once the pilot program has concluded. Researchers -- and legislators -- will determine whether its benefits justify the cost.

Testing the babies of Medi-Cal patients alone, who make up nearly 40 percent of the state's newborns, could cost the state $2 million per year.

The legislation's author, Sen. Sheila Kuehl, D-Santa Monica, said that while she had hoped for a permanent expansion of the screening program, the pilot project is a good start.

"It seems to me this was a relatively intelligent way to bring these new tests on line and try to save some lives," she said.

From Sacbee.com