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Genetic Disease Screening Program

INTRODUCTION

The Genetic Disease Screening Program of the California Department of Public Health works to protect and improve the health of all Californians. We run the largest screening program in the world and set the standard in delivering high-quality, cost-effective genetic services to all Californians. The mission of the Genetic Disease Screening Program is "To serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders." The Genetic Disease Screening Program performs the following tasks to support its mission:

  • Screens newborns and pregnant women for genetic and congenital disorders in a cost-effective and clinically effective manner. The screening programs provide testing, follow-up and early diagnosis of disorders to prevent adverse outcomes or minimize the clinical effects.

  • Ensures quality of analytical test results and program services by developing standards and quality assurance procedures, and monitoring compliance with them.

  • Fosters informed participation in its programs in an ethical manner through a combination of patient, professional, and public education, and accurate and up-to-date information and counseling.

  • Provides ongoing critical review, testing, and evaluation of existing programs to ensure that program objectives and goals are being met.

  • Develops programs to adopt new methods and implement new services that further enhance the effectiveness and efficiency of current and future prevention programs.

  • Promotes use of high-quality consumer education materials on genetic disorders, screening for birth defects and genetic services.


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