A pilot of the system run by the department's Genetic Disease Branch resulted in finding nine babies over five weeks with genetic disorders who now, with minor diet modifications, will lead normal lives. The SIS was developed by Deloitte Consulting LLP.
"Deloitte is proud to be part of a project that will dramatically expand newborn and prenatal screening in California," said Carlo Grifone, principal, Deloitte Consulting LLP. "Allowing the state a better way to manage test results and reporting means health care workers can more readily address the needs of newborns with rare but often treatable diseases."
The program was implemented in advance of a new law signed by Gov. Arnold Schwarzenegger that, as of August 1, requires all babies born in California to be tested for more than 70 genetic conditions. Families with religious objections will not be required to have their children screened under the program.
California laboratories, case coordinators, counselors and the staff of the Genetic Disease Branch will use the SIS to support the screening initiative in the state. SIS is an Internet-based application that integrates business processes for both newborn and prenatal screening, allows easy integration for exchange of test data, provides a platform to meet reporting needs, supports Tandem Mass-based testing, and will allow the state to incorporate new tests with minimal effort in the future.
SIS will allow California health officials to more effectively screen infants for serious diseases, and improve the quality of life for children and their families. SIS was designed and built to be fully compliant with federal privacy laws, with a multi-level security structure to protect the confidentiality of all infants who are screened under the program.