January 29, 2007 By Merrill Douglas
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.
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."
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
You may use or reference this story with attribution and a link to