GDSP Program Overview
- Early identification and initiation of ongoing treatment of genetic and congenital disorders identified through newborn screening can prevent intellectual disabilities, damage to major organs, or death.
- Birth defects and genetic disorders can be identified prenatally, occur in about 3% of newborns, and are leading causes of stillbirth and infant mortality.
- The causes of most birth defects are unknown, but ongoing surveillance and research has led to public health interventions to prevent certain birth defects or improve outcomes through early identification.
- Genetic counseling provides individuals and families with information about inheritance, etiology, screening, testing, prognosis, management, prevention, resources, and research related to birth defects and genetic disorders.
The Genetic Disease Screening Program's Mission and Strategies:
The Genetic Disease Screening Program (GDSP) supports the mission of the Center for Family Health by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders.
"To serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders."
GDSP uses the following strategies to carry out its mission:
- Screens all babies born in California for serious but treatable genetic disorders, by providing high quality screening analyses for newborns and ensuring follow-up services to prevent adverse outcomes or minimize the clinical effects of the identified disorders.
- Ensures all pregnant women in California can access voluntary prenatal screening for risk of specific fetal birth defects as well as follow-up diagnostic services at State-approved Prenatal Diagnostic Centers for women identified to be high risk.
- Makes specimens and data available to researchers to identify risk factors for children and women's diseases and to develop and evaluate screening tests, strategies and treatments.
- Collects data on birth defects, stillbirths, and miscarriages and provides a registry to monitor rates and trends of select birth defects in order to identify opportunities for preventing birth defects and improving the health of babies.
GDSP is one of three Divisions in the Center for Family Health in the California Department of Public Health. GDSP provides population-based statewide screening programs for California newborns and pregnant women and surveillance of outcomes in this population. GDSP staff in the Laboratory Services Branch, located in Richmond, are responsible for directing clinical laboratory procedures for newborn and prenatal screening.
The Centers for Disease Control and Prevention (CDC) recognized the expansion of NBS from 2001-2010 as one of the greatest public health achievements in the United States during that decade. Annually, the California NBS Program screens approximately 500,000 newborns (about 99.5% of the births in the state) and detects approximately 1000 newborns per year with clinically significant disorders, who are immediately referred for diagnostic and treatment services. The program currently screens for more than 80 different disorders.
The PNS Program identifies pregnancies at high risk for certain birth defects, including trisomies such as Down syndrome and neural tube defects such as spina bifida, during the first and second trimester. All medical practitioners with pregnant patients (up to 20 weeks of gestational age) are required by California law to inform their patients of the availability of screening. Approximately 350,000 women voluntarily participate in the program each year – the largest prenatal screening program in the world.
CBDMP has been an active ascertainment, population-based birth defects registry since 1982 when the legislation mandated that the Program collect data on birth defects, stillbirths, and miscarriages. CBDMP currently monitors more than 150,000 births in 10 counties— approximately 30% of the births in California, which are representative of the state's population. CBDMP uses registry data for ongoing surveillance to monitor rates and trends of certain birth defects and to provide outcome data for prenatal blood samples collected by GDSP’s PNS Program.
The California Biobank Program (CBP) currently houses approximately 20 million residual prenatal and newborn screening specimens. The samples are linked to GDSP birth defects and genetic disease data. The samples and data are also linked to the State Registrar of Vital Statistics databases that include fetal death, live birth and death data. CBP is an internationally recognized public health asset because of its large size and culturally, geographically and genetically diverse population. CBP provides researchers with access to blood specimens and data after an extensive approval process.
Any person employed as or practicing as a Genetic Counselor in California, or providing genetic counseling to residents of California, is required by law to have a valid Genetic Counselor License or a Temporary Genetic Counselor License issued by the State of California. GCLP has a comprehensive review process for applications and the Program maintains a listing of all licensed Genetic Counselors on the GDSP website.
GDSP conducts screening, clinical, and surveillance activities statewide through public-private partnerships. The Program contracts with five regional laboratories for initial screening activities and other private laboratories for confirmatory (diagnostic) testing. GDSP also contracts with major medical centers, regional offices, and community organizations for diagnostic and follow-up services. GDSP has contracts for field staff to perform active ascertainment of birth defects in 10 counties routinely, and other counties as needed.
Health and Safety Code sections 124975
(Genetic Prevention Services) and 103825-103855 (Birth Defects Monitoring Program); California Code of Regulations, Title 17, Subchapter 9 (Heritable Diseases)
, sections 6300.1-6303.3, 6500-6510, 6521-6540, and 6550-6557.
Major Funding Sources and Administration
GDSP screening, follow-up, and surveillance activities are fully funded through screening fees-for-service deposited into the Genetic Disease Testing Fund, which is managed by GDSP’s Operational Support Branch. As mandated in the Health and Safety Code, $10 of each PNS fee collected is deposited in the Birth Defects Monitoring Fund to support the prenatal component of the California Biobank Program (CBP) and CBDMP research activities. CBP is also supported by fees collected from researchers.
Data and Surveillance
For both PNS and NBS, health care providers report data to GDSP regarding birth defects and genetic diseases identifiable through the respective screening programs. GDSP uses PNS and NBS data for program evaluation and quality improvement of screening performance. GDSP also collects long-term follow-up data from special care centers for children identified with genetic disorders who are treated by geneticists and other specialists. GDSP posts regional data on the California Open Data Portal regarding the number of disorders identified through newborn screening. County-specific birth defect counts for each of California’s 58 counties are posted periodically based on CBDMP data rates from 10 core counties where active case ascertainment occurs. For national data reporting, GDSP data are represented in newborn screening reports from the Association of Public Health Laboratories and birth defects surveillance reports from CDC.