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California Screening

New technology helps health department vastly expand its newborn genetic screening program.


In May 2005, a lab in California performed a genetic screen on blood drawn from a newborn girl. The screen uncovered a metabolic disorder so rare that only 32 other cases had ever been documented.

Had the baby been born one week earlier, the lab wouldn't have screened for that particular condition, and she probably would have died.

As it was, she received the appropriate medical care and lived.

The infant was lucky to be born just as the California Department of Health Services (CDHS) started piloting the Screening Information System (SIS), a computer system developed to replace an obsolete information platform and support the state's newly expanded genetic screening program.

California started using the SIS statewide in July 2005.


Huey, Dewey and Louie
Under California law, all newborns must be screened for genetic diseases, and every pregnant woman must have the opportunity to choose or decline prenatal screening.

Blood samples are processed in one of eight state-contracted labs where computer-supported equipment performs several tests. The labs then transmit the results to a central state lab, where professionals assess the results -- examining demographic data along with information from the tests -- to determine if the baby suffers from a genetic disease.

If that's the case, the CDHS alerts the child's doctor and parents, and the department follows up until the case is resolved or the baby starts receiving treatment.

Since the early 1980s, the information system that managed this process was a set of three computers -- officially mid-tier machines, but they were so bulky they filled an entire room.

"We called them Huey, Dewey and Louie," said Catherine Camacho, deputy director of Primary Care and Family Health at the CDHS.

The problem was that the more the older the information system grew, the less effective it was in supporting the state's genetic screening program.

"It was obsolete technology," said Christy Quinlan, deputy director of the Information Technology Services Division and CIO of the CDHS. "The fear was we couldn't patch it. We couldn't upgrade it."

The hardware and the software were no longer supported by a vendor, and if the system suffered a serious breakdown, there might be no way to get it running again.

"Every time they had a problem with it, it was no joke -- they had to go to old computer graveyards," Camacho said. "We ran a fabulous system that everybody knew was very comprehensive and highly respected, but we were duct-taping and rubber-banding it together."

Not only were Huey, Dewey and Louie limping into advanced age, they also performed too slowly, couldn't easily produce the management reports the CDHS required, and couldn't be upgraded to contemporary security standards.

"When you're taking input from external sources," Quinlan said, "you want to ensure that you have the latest security installed."


Retirement Plan
In 2000, officials at the CDHS launched a project to retire the old machines. The original plan was simply to bring in a new system with modern capabilities.

"It would be more nimble. It would be faster. It would be able to sort."

The project encountered many delays, ranging from political opposition to the Y2K conversion, Camacho said. The holdups seemed like bad news at the time, but they proved to be a stroke of good fortune.

The CDHS was still in the middle of planning a new information system to replace the old one when, in 2004, the California Legislature passed a law that turned the implementation program upside down. The CDHS would have to incorporate a new technology, called tandem mass spectrometry, into its genetic screening regimen. The department would also have to start screening newborns for many more genetic conditions.

"Going to the tandem mass spectrometry was a radical change in the design of the system," Quinlan said. "It needed a completely different technology."

So the CDHS scrapped its program-in-progress and started planning all over again.

The new law came at a perfect time, Camacho said. "Had it come much later, we would have had to backtrack. We were at a point where, ideally, it was a great time to stop and incorporate that piece into it."

The CDHS could have conducted two separate technology projects -- one to adopt a modern computer platform, and one to incorporate tandem mass spectrometry and more genetic tests.

"We decided to go for broke," Quinlan said, and department officials determined it would be much less costly to wrap both upgrades into a single initiative.

It would also be a great deal of work -- especially with the Legislature's Aug. 1, 2005 deadline less than a year away.

"We had frank discussions about, once we start, it's a point of no return," Camacho said. "We told staff, 'This will mean people can't take vacations. Around the holidays will be some of our busiest times.' We were going to have to run the marathon at a sprint."

After a couple of small pilots -- including the one that saved the baby's life -- the department started a statewide pilot implementation in June, running both the new and old systems. Then it started shutting down Huey, Dewey and Louie and relying entirely on the SIS.

"We flipped the switch in mid-July, a couple of weeks early," Quinlan said.

Developed in conjunction with Deloitte Consulting, the SIS is a Web-based system, built on Microsoft .NET technology and running on the CDHS's extranet. It receives data from the labs in batch files and uses Business Objects software to produce reports.


More Screening
The new system supports tandem mass spectrometry and lets the state screen newborns for 75 genetic conditions -- up from 39 in the days before the SIS.

"It allows us to evaluate results using newborn birth weight, which was not possible with the legacy system," said John Sherwin, acting chief of the CDHS's Genetic Disease Branch.

In addition, the SIS has streamlined and improved many processes that are part of the state's genetic screening program.

Unlike the previous system, it supports the entry of demographic data using intelligent character recognition/optical character recognition, Sherwin said. "There are a number of management reports that are much more distributed and more easily available directly to authorized users. It has shortened the time for our staff to identify that patients have gotten into appropriate follow-up care."

In all, the system supports more than 150 reports as well as ad hoc reporting, according to a description published by the CDHS.

The SIS can also match the results of prenatal and newborn genetic screens -- a function that was previously unavailable with the old system.

"A portion of our quality assurance program is the ability to identify if the mother of an affected infant had prenatal screening and what was the outcome," Sherwin said. The SIS also tracks data that enhances the value of genetic counseling in later pregnancies, such as whether a woman previously gave birth to a child with a genetic disorder.

The SIS will soon help the CDHS manage a new genetic screening challenge. In September 2006, Gov. Arnold Schwarzenegger signed a bill that expands the state's genetic screening program to include two more tests, for cystic fibrosis and biotinidase deficiency.

"We're programming for more screening," Quinlan said.

From the start, the CDHS designed the SIS so it could easily add screens for new conditions, Camacho said. "We didn't want to have to go in and rebuild the system."