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.
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).