In 1982, Dr. John Harris and Dr. Richard Jackson in conjunction with California’s legislature and governor established a groundbreaking program for birth defects monitoring and research. The California Birth Defects Monitoring Program has since become a model for surveillance in other states and a worldwide leader in birth defects research.
Our findings have guided an evolving focus over the years. Today’s Program is an efficient, highly-targeted operation performing sophisticated pioneering research in birth defects causes. But such success did not come overnight—it has taken 20 years to mount this effort.
1ST ERA: ESTABLISHING THE BASELINE
Granted legislative authority to confidentially access medical records in hospitals, genetics clinics and labs, the Program began monitoring in the 5 counties around the San Francisco Bay. Early accomplishments include:
|Data collection protocols. We set procedures for identifying children with birth defects, reviewing medical records and linking cases with Vital Statistics—now widely used as a prototype for other US programs.|
|Registry expansion. New counties were added to the surveillance area, with statewide coverage achieved in 1990.|
|Baseline data. The Program published the overall frequency of birth defects-establishing for the first time California’s “normal” rates.|
|Descriptive epidemiology. Mining the data generated, scientists documented occurrence rates, patterns and trends for specific conditions.|
|Scientific methods. Program scientists helped invent how the science is done—from interview techniques to biologic tests for verifying exposures.|
2ND ERA: GENERATING CLUES
With a data collection and analysis framework in place, the Program began to address the ultimate question posed by legislators and society: what causes birth defects? Staff established communication channels with medical/public health practitioners and the public, incorporating their concerns into research hypotheses.
|Outreach. Regional coordinators lectured at hospitals statewide, polling alert clinicians for their thoughts on causes.|
|Community response. Over 100 cluster investigations and other small area studies were done to assess public concerns about birth defects and the environment.|
|Collaboration. Liaisons with scientists and other institutions around the world provided new leads and resources to investigate complex research issues.|
|Research results. Studies on neural tube defects, gastroschisis, cerebral palsy and other conditions provide provocative findings that call for follow-up.|
3RD ERA: SHARPENING FOCUS
After casting a broad net for data and clues, we’ve learned from 20 years of experience which strategies work and which are less effective.
|Data collection procedures. The Program’s huge registry database—with information amassed on over 3.5 million births—makes it unnecessary to monitor all births and all conditions statewide. Instead, we gather data on a core group of conditions in a representative sample of births. Collection and analysis procedures have been enhanced to improve data quality.|
|Research priorities. We now focus on common birth defects with substantial public health impact. Large numbers guarantee findings will be scientifically meaningful-with potential to prevent the most widespread conditions threatening today’s infants. Current investigations concentrate on major heart defects, oral clefts, central nervous system defects (neural tube defects, holoprosencephaly), hypospadias, Down syndrome and other forms of mental retardation.|
|Community response. Experience has taught us that cluster investigations will probably only uncover very potent causes of birth defects—those increasing rates by 10 times or more. We have the capability to mobilize surveillance if such a “sledgehammer” is suspected.|
|Upgraded scientific methods. Our studies incorporate the latest technologies, including biologic sampling and DNA analysis, to take advantage of new genetic discoveries by the Human Genome Project.|
With over 250 published findings, ongoing monitoring of 219,081 births/year and trailblazing research, the Program continues to be a leader in birth defects research and surveillance.