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Program Development and Evaluation (PDE)
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Program Development and Evaluation Section

The general focus of this Section is to centralize the development and program evaluation responsibilities of the Genetic Disease Screening Program. The Section is devoted to the following activities:

  • The development of new programs to improve the quantity and quality of screening services provided to California pregnant women and their newborns. This involves staying on the cutting edge of new technologies to reduce the burden of genetic and inherited disorders through early diagnosis and treatment.
  • The evaluation of existing programs to determine how well the needs of California residents are being met. Staff conduct ongoing daily monitoring of programs to assess screening test performance to assure that services are provided in a timely and effective manner. Short-term and long-term follow-up data allows staff to track the health impact of screening services, including the study of important trends in the use of services among specific populations and regions throughout the State.
  • The pursuit of knowledge through research investigations to answer important questions about factors associated with birth defects and genetic disorders. Many unanswered questions exist about how best to identify disorders early to prevent, or reduce, unnecessary disability. A priority of the GDSP is to educate and involve parents in all aspects of decision-making. With all of our research and data collection endeavors, we adhere to strict privacy protections to maintain the confidentiality of all data, documents, and test results. Including Institutional Review Board (IRB) oversight of our research protocols.
  • Disease surveillance through registries of diagnosed disorders to determine how well the screening program identifies the targeted disorders that are screened for (the detection rate). Registries of affected cases make it possible to better understand characteristics of individuals that are missed through the screening process and provide data to conduct epidemiologic studies that could lead to improvements in the quality of the screening programs.

Organizational Structure

The Branch is divided into four Sections. However, staff from different Sections regularly collaborate on specific projects as appropriate with respect to individual skills and areas of expertise. This is reflected in the authorship and co-authorship of over 60 peer-reviewed articles by PDE Branch in the last 10 years (see list of publications). 

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