Genetic Disease Screening Program
The mission of Genetic Disease Screening Program (GDSP) is to serve the people of California by reducing the emotional and financial burden of disability and death caused by genetic and congenital disorders. GDSP protects and improves health and birth outcomes of all newborns and pregnant women in California.
The GDSP administers the Newborn Screening (NBS) Program and the Prenatal Screening (PNS) Program. These programs screen for genetic disorders that are, for the most part, preventable or remediable by early intervention and provide clinical oversight for the follow-up services, which include genetic counseling, confirmatory testing, including ultrasound and diagnostic procedures. GDSP provides nearly 1 million genetic screens each year, the largest genetic screening program in the world. In addition to being the largest program, California leads the way in the number of disorders screened and is the most comprehensive in terms of quality control, follow up services, genetic counseling, confirmatory testing and diagnostic services. These programs have brought California into the forefront in public health screening, while still preserving the historical emphasis on serving all populations of pregnant women and newborns, regardless of income or ethnicity, so that access to care is equal for all participating. The screening fee is covered by insurance companies, as statutorily required.
Newborn Screening (NBS) Program: The NBS Program is recognized nationally as an essential preventive public health measure. All states in the nation and the District of Columbia have established newborn screening programs, but California is recognized as the leader in genetic screening. In January of 1966, state law required that treating physicians ensure all newborns were tested for phenylketonuria (PKU). As medical advancements were made, it became possible to increase the number of disorders screened. Today, the NBS Program has extended the total disorders screened to 76. The last two disorders, biotinidase deficiency (a metabolic disorder) and cystic fibrosis were added in July 2007. While some other states were already screening for cystic fibrosis, CA developed a unique four step model which tailored the screening to match the demographics in CA, which has resulted in more accurate screening with fewer false positives. This four step model has been well received and is being considered a model for other newborn screening programs.
Today, GDSP screens over 566,000 newborns annually, approximately 99.5% of the births in CA. Last year, the screening program detected about 750 newborns with clinically significant disorders that were immediately referred for diagnostic and treatment services. Early identification and initiation of ongoing treatment of disorders identified through newborn screening can prevent severe mental retardation, delayed body growth, damage to major organs, and/or death. The impact of early treatment extends beyond the immediate impact to the newborn, family and their community. The savings to the health care system is significant.
Prenatal Screening (PNS) Program: PNS is a second trimester screening program. By a 1986 legislative mandate, all medical practitioners with pregnant patients between 15 and 20 weeks of gestational age are required to inform their patients of the availability of California’s PNS Program. The decision to participate is up to the patient. Presently, the fee is $162. Check with the doctor or clinic about the most current fee. The fee covers the blood tests and authorized follow-up services at a State-approved Prenatal diagnosis Center. The Program mails a bill and insurance form to the patient unless insurance information is received with the blood specimen. In most cases, health insurance companies and HMOs are required to cover the fees for the screening program after any deductible or co-pay. PNS began as a second trimester screening program for neural tube defects, with very limited detection of Down Syndrome. In 1995, California expanded PNS to include a “triple marker” to provide improved screening for genetic disorders. The voluntary PNS Program provides prenatal screening test results, follow up for all non-negative test results, and prenatal diagnosis, when indicated. In July 2007, the PNS Program added a fourth blood marker, Inhibin, to allow Quad Marker screening in the second trimester, which significantly improves the detection rate. In January 2009, the PNS Program will be expanded to include a second blood test, offered during the first trimester. The results from the first and second trimester screen are compared, resulting in what is known as an integrated screening. This integrated screening will improve the detection rate, lowering the number of women requiring follow up and diagnostic services.
In the United States, Iowa and California are the only states that offer a state administered prenatal screening program. California’s PNS Program, screening nearly 400,000 patients per year, is the largest prenatal screening program in the world. California offers the only comprehensive prenatal screening program in the country that includes follow up, diagnostic and confirmatory testing. Outside of California’s PNS Program, women who are screened positive arrange for diagnostic testing through their insurance or pay out of pocket. Many women are not able to afford the test at all. This program improves pregnancy outcomes through the expectant management of pregnancies with fetal malformations, fetal growth abnormalities and placental insufficiency. Managing a high risk pregnancy, ensuring delivery is in a hospital with a Neonatal Intensive Care Unit, so that the appropriate level of care is immediately available is critical. When a newborn requires specialized care and the birthing hospital is unable to provide the care, the baby requires a medical transport to an appropriate facility. This delays medical intervention and can put the newborn at risk during the transport and may require a medical team to accompany the newborn to an appropriate medical facility, all of which have fiscal impacts to the healthcare system and the families.
The following three programs support the NBS and PNS Programs:
The Genetic Disease Screening Laboratory (GDL) oversees GDSP’s screening that is performed by private sector laboratories which are under contract and must function as one laboratory. GDL has improved testing methodologies to new levels of scientific rigor, and in some cases have radically changed emerging research technologies into full scale testing modules that are widely respected and found only in two or three laboratories in the country.
The Program Development and Evaluation Branch is responsible for developing the prenatal screening algorithms and the statistical analyses of the different normal and affected population analyte distributions for detecting the 76 newborn disorders. Together with the GDL, accurate cutoffs are set to maximize detection rates and minimize false positives. This program exemplifies the complex interrelationship between high quality laboratory testing development and methodology and the accurate analysis of the data resulting from these testing methodologies. Only through this complex combination of biochemistry, technology, biostatistics, population genetics and mathematics can accurate risk assessments and cutoff values be determined which are suitable for a large scale public health screening program. Furthermore, PDEB scientists also use the existing newborn and prenatal specimen banks to develop and test new testing methodologies. For example, California is the only state able to provide newborn specimens of children who died from disorders that were previously undetectable and untreatable. These specimens are invaluable in the development of new screening tests and treatments.
The Screening Information System (SIS) implemented in July 2005 is a critical cornerstone of California’s genetic disease screening program. This custom designed system is one of the largest and most comprehensive programs in the world. SIS is an award winning web-based information system.
Program Funding and Administration
The California Department of Public Health (CDPH), Center for Family Health (CFH) administers California’s GDSP, which is 100% fee supported – there is no General Fund in the GDSP. The GDSP budget for State Fiscal Year 2008-2009 is nearly $120 million.
The CDPH developed an efficient and effective genetic screening program based upon a public-private partnership. GDSP enlisted multiple statewide partners, ensuring the same level of service was provided throughout the state with the implementation of stringent quality control standards. GDSP contracts with major medical centers and community agencies for follow-up services, including follow-up and diagnostic services conducted thru regional offices as well as private laboratories for initial screening and confirmatory testing.
GDSP Contact Information
For more information go to GDSP’s Web site at http://www.cdph.ca.gov/programs/GDSP
Genetic Disease Screening Program
850 Marina Bay Parkway
Suite 175, MS 8200
Richmond, CA 94804
Voice: (510) 412-1502 / Fax: (510) 412-1548