Indicates Matter Stricken
Indicates New Matter
The Senate assembled at 11:00 A.M., the hour to which it stood adjourned, and was called to order by the ACTING PRESIDENT, Senator KNOTTS.
The Honorable Mark Sanford
P. O. Box 12267
Columbia, SC 29211
The Honorable Glenn F. McConnell
President Pro Tempore
South Carolina Senate
P. O. Box 142
Columbia, SC 29202
The Honorable David H. Wilkins
South Carolina House of Representatives
P. O. Box 11867
Columbia, SC 29211
Dear Governor Sanford, President Pro Tempore McConnell and Speaker Wilkins:
Enclosed please find the report from the Birth Defects Surveillance Task Force, a group of dedicated health professionals and community leaders that came together for a common purpose: to improve the health of our state' s children by gaining a better understanding of birth defects in South Carolina.
Creating a comprehensive system of birth defects monitoring and information in each State is a national priority for the March of Dimes. The South Carolina Chapter of the March of Dimes is proud to have organized this effort in South Carolina and we look forward to continuing our involvement as this important program takes shape.
We thank you for your leadership as we move forward with this critical step in improving the health and well-being of our most vulnerable citizens. In these challenging economic times we believe that our proposed program will allow us to better allocate resources and gain the information we need to prevent birth defects.
We are grateful for the opportunity you have afforded the March of Dimes to be a part of this special endeavor. Please do not hesitate to contact me if you have any questions.
/s/ Paula B. Howell
1 Gregor Mendel Circle
Greenwood, SC 29646
January 27, 2003
The Honorable Mark Sanford
P. O. Box 12267
Columbia, SC 29211
The Honorable Glenn F. McConnell
President Pro Tempore
S. C. Senate
P. O. Box 142
Columbia, SC 29202
The Honorable David H. Wilkins
S. C. House of Representatives
P. O. Box 11867
Columbia, SC 29211
Dear Governor Sanford, President Pro Tempore McConnell and Speaker Wilkins:
On behalf of the Birth Defects Surveillance Task Force, established pursuant to Act 376 of 2002, I am pleased to submit our task force report for your review and consideration. I would like to take this opportunity to tell you what an honor it was to serve as task force chairman. We had an excellent and diverse group of individuals working together to offer solutions in the area of birth defects. I, as well as all members who served on the task force, stand ready to assist you in any way as you consider our recommendations.
Please let me know if you have any questions. Thank you again for the opportunity.
/s/ Roger E. Stevenson
Chairman, S. C. Birth Defects Surveillance Task Force
Act 376 of the 2002 Carolina General Assembly authorized a 21-member Task Force on Birth Defects Monitoring. The legislation provided that members would be appointed by the Governor's Office, the Chairmen of the House Ways and Means and Medical, Military, Public and Municipal Affairs Committees and the Chairmen of the Senate Finance and Medical Affairs Committees, as well as various State Agency Directors. Those appointments were made in June and July of 2002 (See Joint Resolution, Appendix 1).
The Task Force was charged with: 1) studying birth defects surveillance methods, programs and procedures and 2) developing recommendations for establishing a statewide effective and comprehensive birth defects program for South Carolina.
Work on behalf of the full Task Force was carried out by five subcommittees dealing with: 1) Operations and Resources, 2) Data Utilization, 3) Advocacy and Family Issues, 4) Environmental Issues, and 5) Legislation.
Four meetings of the Task Force as a whole were held (August - December 2002) to review birth defects and monitoring methodologies, gain insight from consultants, hear committee reports, and formulate final recommendations. In addition to these task force meetings, the five subcommittees met and researched the various issues assigned to their respective subcommittees. (See task force member list and subcommittee chairmen list, Appendix 2.)
As a result of extensive research and debate the Task Force recommends:
1) The establishment and maintenance of a comprehensive program to monitor the occurrence of all major birth defects in South Carolina for the purposes of:
o Determining rates and trends of birth defects
o Assessing the efficiency of referral of affected infants and families for appropriate services
o Developing public health strategies for the prevention of birth defects
o Conducting research on the causes, distribution, and prevention of birth defects
2) The identification of the program to be the South Carolina Birth Defects Program (SCBDP).
3) The location and operation of the SCBDP to be within the SC Department of Health and Environmental Control, which shall have the authority to:
o Determine by regulation the required staffing and operating procedures.
o Develop linkages, contracts, partnerships, and other agreements with agencies and organizations as necessary and desirable to carry out program activities.
o Plan for the transition and absorption of the current SC Birth Defects Surveillance and Prevention Program operated by the Greenwood Genetic Center into the SCBDP within a period of two years from the date of funding of the program.
o Receive funding to support the SCBDP through direct state appropriations, fees, and grants and contracts with federal, state, and nongovernmental agencies and organizations.
4) Appropriate measures be taken to protect the confidentiality and rights of individuals with birth defects and their families.
5) Procedures be developed by which data are reported to or shared among appropriate agencies.
6) Procedures be developed for application, review, and utilization of the data for bona fide research purposes by governmental and nongovernmental institutions, agencies, and organizations.
7) The necessary legislation to accomplish the above goals be drafted for consideration by the 2003 General Assembly.
For purposes of the Task Force, birth defects were defined as major structural abnormalities present at the time of delivery. By this definition, the term birth defects encompasses the medical terms, malformations (defects in the formation of body structures), deformations (altered form or position of body structures caused by mechanical forces before birth), and disruptions (defects caused by destruction of a body structure once correctly formed). Although abnormalities of neuromuscular function, mental retardation, autism, impairment of the special senses, metabolic disorders, excessive or deficient growth, and conditions related to prematurity might be included in a broad definition of birth defects, it was not the intent of the Task Force to consider such abnormalities as part of the Birth Defects Program. Rather, only major structural birth defects, i.e., those that are life threatening or require significant medical correction, were included.
I. Historical Notes
Accounts of humankind's occupation with the nature and meaning of birth defects exist among the earliest written records. The oldest writings that deal with birth defects are the cuneiform tablets from the Library of Nineveh, which probably date from 2000 BC. The written records covering four millennia since these tablets were produced contain a rich heritage of observations on malformations.
Interest in birth defects, however, did not begin with civilizations having written language. Pre-graphic humans gave expression to their knowledge of birth defects by weaving them into folklore, by depicting them in drawings and other artwork, and by transforming individuals with structural anomalies into gods and mythical creatures.
Few events evoke the emotions of humans as greatly as the birth of a baby with birth defects. At once, sympathy, disbelief, fear, guilt, imagination, and curiosity are expressed. Concepts regarding the causes of birth defects can be traced through the folklore, art, writings, and scientific advances of the past four millennia. With increasing scientific understanding, concepts involving faulty formation of the early embryo, genetic aberrations, and specific influences from the environmental have become recognized as causes of malformations.
Birth defects surveillance systems have arisen in response to the need to know more about the rates, trends and distribution of birth defects. The goal of such programs has been to identify risk factors and causes and ultimately to develop prevention strategies.
II. The Public Health Impact of Birth Defects
Birth defects have wide-ranging effects on individuals, families, and society as a whole. Although structural birth defects affect less than 5% of all livebirths, they contribute disproportionately to morbidity and long-term disability and to fetal, infant, and early childhood mortality (Sever et al. 1993). Among surviving affected individuals, certain birth defects exact a toll in terms of discrimination, loss of self-esteem/image, impairment of freedom of movement, and limitation of full participation in work and recreation. Families who often experience emotional stresses (guilt/blame, grief, chronic sorrow), must while under this stress develop some understanding of the nature of the birth defect and its natural history, and must plan for any special needs requirements of the affected child. They must also deal with concerns regarding recurrence and the adjustment of siblings and other family members. The impact of birth defects on our public health system extends beyond the economic implications of birth defects, as important as these are, to include responsibility for encouraging society to respect and accommodate persons with birth defects and related disabilities, for the development and delivery of services, and for planning and implementation of acceptable prevention strategies.
Major birth defects, those anomalies that threaten life or require substantial medical correction, have been found in 2-3% of liveborn infants and 15-20% of stillborn infants (Centers for Disease Control and Prevention 1993; Schroer and Stevenson 1993). By age 5 years, approximately 4-5% of children will be found to have major anomalies (Graham 1991). Minor anomalies (those that do not require medical intervention) occur in much larger numbers. Approximately 15% of newborn infants will have one or more minor anomalies (Leppig et al 1987, Schroer and Stevenson 1993). In general, minor anomalies (such as birth marks, unusual slant to the eyes, curved fingers and so forth) pose no significant health burden.
The causation of structural anomalies is poorly understood with the cause in 40 to 70 percent of cases unknown (Nelson and Holmes 1989, Wilson 1973). Almost all chromosome aberrations cause birth defects as do a large number of single gene mutations (Stevenson et al. 1993, Jones 1997, McKusick 1998). A smaller number of environmental insults (e.g., infections, drugs and chemicals) have been linked to birth defects, causing collectively less than 10% of all defects (Wilson 1973, Stevenson 1977, Shepard 1998). Multifactorial causation, the combination of genetic predispositions and environmental influences, is responsible for several of the more common isolated birth defects (e.g., neural tube defects, cardiac defects, and oral/facial clefts). Only in recent years have new genetic technologies begun to delineate pathways that underlie human development and to understand how genetic and environmental forces interact, causing disturbances that lead to birth defects (Brewer et al 1998, Schwabe et al 1998, Passos-Bueno et al 1999, Gilbert 2000).
During the past three decades, structural birth defects have emerged as the leading cause of infant mortality in many developed countries. Currently in the United States, birth defects account for 20.7% of infant deaths, exceeding deaths from prematurity/low birth weight (15.4%), sudden infant death syndrome (7.7%), and respiratory distress syndrome (3.6%) (2000 data, National Vital Statistics 2001). South Carolina Vital and Morbidity Statistics (2001) indicate infant mortality rates from birth defects in South Carolina (10.3 per 1,000 births) are higher than the national average (7.1 per 1,000 births).
Economic Impact. Most infants with birth defects survive and disproportionately consume health care resources. Birth defects are responsible for 25-30% of pediatric hospitalizations. Harris and James (1997) have estimated the lifetime cost of selected birth defects in the U.S. using 1988 surveillance data. Nationwide, the cost for spina bifida without anencephaly was $453 million (1992 dollars), for three complex cardiac defects (truncus arteriosus, transposition of the great vessels, and Tetralogy of Fallot) was $1 billion, and for limb reduction defects, $282 million. The lifetime cost per child with spina bifida was $294,000, for complex heart defects was $262,000 - $505,000, and for limb reduction defects was $99,000 - $199,000. These costs do not take into account caregivers' costs, which may range from $50,000 - $250,000 per birth defect case (Tilford et al 2001).
Apart from these considerations is the prevailing societal view that children should be born healthy. This view is reflected in the legal decision of Smith vs. Brennan (Supreme Court of New Jersey 1960) "...justice requires that the principle be recognized that a child has a legal right to begin life with a sound mind and body."
Prevention. Successful strategies to prevent birth defects are beneficial in terms of reducing human suffering, stress on family structure, and health care expenditures. A wide range of strategies to prevent birth defects has been developed in recent decades. These include immunization (rubella), avoidance of teratogens (alcohol, drugs), use of donor egg or sperm (carrier state for single gene mutation or balanced chromosome aberration in parents), dietary measures (folate supplementation), and treatment of maternal diseases (maternal phenylketonuria, diabetes mellitus). It is to be anticipated that a greater understanding of the human genome, environmental forces to which developing embryos and fetuses are exposed, and the interaction between these two influences, will lead to additional specific treatment and prevention strategies in the years ahead.
III. Monitoring and Prevention of Birth Defects in South Carolina
The existing South Carolina Birth Defects Surveillance and Prevention Program at the Greenwood Genetic Center conducts population-based surveillance for only three categories of major birth defects - neural tube defects, cardiac defects, and limb reduction defects - in pregnancies/births in South Carolina. It is proposed that this program be absorbed into the SC Birth Defects Program and that the scope and capacity of birth defects monitoring be expanded to include all major birth defects.
Surveillance for neural tube defects has been conducted in South Carolina since 1992. This surveillance is statewide (approximately 55,000 live births and fetal deaths annually) and has particular strength in identifying prenatally diagnosed cases through collaboration with the State's three genetic centers, obstetrician offices, prenatal clinics, pregnancy testing laboratories, and fetal examination services (Allen et al. 1996, Stevenson et al 2000a). The existing S.C. Surveillance and Prevention Program has been identified as a model system - "...that should occur in every state in the country" (Brent et al. 2000).
Surveillance for heart defects and limb reduction defects was instituted in 2000. Through affiliation with the South Carolina Children's Heart Program, the surveillance team is attempting to identify all infants and young children with significant heart defects, determine the timeliness of referral for services, and assess the efficacy of surgical treatment and prevention program. As yet, no utilization of surveillance data on limb reduction defects has been implemented.
Although limited information about certain other birth defects is gained through a number of different activities and by many different agencies/organizations, the information relates to only a segment of the pregnancy/birth population and depends on incomplete detection procedures. It is proposed that the SC Birth Defects Program conduct monitoring statewide, include all major structural birth defects, use active and passive methods, and ascertain cases prenatally and postnatally.
Prenatal Monitoring. Identification of birth defects, which are prenatally diagnosed, is an important monitoring activity. For some birth defects, exclusion of this group could substantially and falsely lower the observed prevalence. Of the neural tube defects in South Carolina ascertained prior to 26 weeks of pregnancy, only 6% are recorded in vital records and 75% in hospital medical records (Allen et al 1996). Similar underreporting of prenatally diagnosed defects has been documented in the Metropolitan Atlanta area and elsewhere (Roberts et al 1994, Eurocat Newsletter 1995, Forrester and Merz 2001).
Postnatal Monitoring. Hospital medical records and discharge data provide the major source of postnatal ascertainment of birth defects. Important supplemental sources of early ascertainment of major birth defects include genetics clinics, pediatric cardiology clinics, children's rehabilitative services, orthopedic clinics, craniofacial clinics, spina bifida clinics, and fetal examination services. For example, malformations constitute the most frequent reason for referral of infants and children less than 3 years of age for genetic services in South Carolina (Stevenson and Dean 1992). Since evaluation for congenital heart defects is conducted at the four centers of the Children's Heart Program of South Carolina and since all surgery for heart defects is carried out at one location (Medical University of South Carolina), the Children's Heart Program is an important secondary source of ascertainment for heart defects.
Passive monitoring can be conducted via reports from Vital Records and the Hospital Discharge Data System. Reports of birth defects in the records of these systems without a match in the Program's surveillance records can be followed up by the surveillance teams for verification and addition to the surveillance records.
IV. National Structure for Birth Defects Monitoring
Currently, 41 states do some type of Birth Defects monitoring. There are ten approved Regional Centers for Birth Defects Research and Prevention, which conduct surveillance and participate in the National Birth Defects Prevention Project. These Centers are located throughout the United States and coordinate research and other activities through the National Center for Birth Defects and Developmental Disabilities. In addition, 28 states have Collaborative Agreements with the Centers for Disease Control and Prevention through which birth defects monitoring and prevention activities are supported. South Carolina has received such support since 1992.
States with Birth Defects Surveillance Systems
[map omitted from web version of this journal]
Source: Centers for Disease Control and Prevention, August 2002
Birth Defects Prevention Act of 1998. Congress passed landmark legislation in 1998, which directed the federal Centers for Disease Control and Prevention (CDC) to work through the states to carry our monitoring activities, operate research centers, and furnish information on birth defects. The March of Dimes Birth Defects Foundation was instrumental in securing passage of this landmark legislation.
Children's Health Act of 2000. This federal legislation established the National Center on Birth Defects and Developmental Disabilities (NCBDDD) as the newest center in the Centers for Disease Control and Prevention (CDC).
The CDC is the premier world agency in epidemiology and public health, whose scope includes infectious diseases, sanitation, injury prevention, community health, chronic disease prevention and now, bioterrorism preparedness and response. The CDC has been instrumental is assisting states in establishing effective, integrated Birth Defects programs, and has done so with South Carolina's efforts from 1992 to the present.
V. South Carolina Birth Defects Program
The Task Force recommends development of the South Carolina Birth Defects Program with the capacity and resources to conduct active birth defects monitoring. This comprehensive Birth Defects Program offers benefits of improved child services, occurrence and recurrence prevention, epidemic or cluster analysis, education, research, optimal resource allocation, and net savings which far exceed the cost. The Program represents an expansion of our effective, widely acclaimed system, which currently covers only birth defects of the spine and brain (called neural tube defects - NTDs), heart and limbs.
The monitoring component of the SC Birth Defects Program should be "active" with central offices in our public health system, and regional offices serving our citizens in each area of South Carolina. It should encompass major structural birth defects, using well-established procedures and modern technology. It should be closely tied to our existing newborn programs in vital statistics, metabolic screening, and hearing testing. Uses will include child health and family services, education, research, and health planning.
Rigorous protection of confidentiality and privacy should be maintained by the SC Birth Defects Program in keeping with strong procedures regarding public health data already in place in South Carolina.
Legislation should be crafted, introduced and passed in 2003, allowing for the SC Birth Defects Program to be fully deployed by 2004. The existing system should be merged into the new SC Birth Defects Program. Partnerships and cooperation among public and private child health systems are essential.
Structure. It is recommended that the SC Birth Defects Program be located for administrative purposes within SC Department of Health and Environmental Control (DHEC) and that DHEC be given the authority to develop regulations necessary to operate a comprehensive birth defects program. Among other matters, DHEC shall have the capacity to:
1. Determine the required staffing and operating procedures.
2. Develop linkages, contracts, partnerships, and other agreements with agencies and organizations as necessary and desirable to carry out program activities.
3. Plan for the transition and absorption of the current SC Birth Defects Surveillance and Prevention Program operated by the Greenwood Genetic Center into the SCBDP within a period of two years.
4. Take appropriate measures to protect the confidentiality and rights of individuals with birth defects and their families.
5. Develop procedures by which data are reported to or shared among appropriate agencies.
6. Develop procedures for the application, review, and utilization of the data for bona fide research purposes by governmental and nongovernmental institutions, agencies, and organizations.
7. Receive funding to support the Birth Defects Program through direct state appropriations, fees, and grants and contracts with federal, state, and nongovernmental agencies and organizations.
Methodology. It is recommended that the SC Birth Defects program utilize an active system of monitoring. Active monitoring involves the use of caseworkers who ascertain cases from a variety of sources including inpatient and outpatient settings and prenatal and postnatal sources. The caseworkers verify the cases through abstracting medical records and review of the information with a birth defects specialist. Active systems are more expensive per case, but highly sensitive and accurate.
Essential inputs to the active system include:
1. Maternal fetal medicine and prenatal clinics - prenatally
diagnosed structural birth defects
2. Pathology services
- fetuses and infants with structural birth defects
3. Hospital medical records
- inpatient/outpatient ICD-9/10 codes 740-759
4. Genetics clinics and laboratories
- prenatally and postnatally diagnosed birth defects in clinics and laboratories
5. Specialty clinics (Children's Heart Program, Cranio-Facial clinics, Orthopedic clinics and hospitals, Children's Rehabilitative Services, Spina Bifida clinics).
- infants and children receiving services for birth defects
6. Hospital Discharge Data System
- inpatient/outpatient ICD-9/10 codes 740-759
7. Vital records
- birth certificates
- death certificates
In contrast, passive birth defects monitoring involves recording the incidence of birth defects by ascertainment from birth certificates, death certificates, medical records and other documentation. Passive systems are the least expensive type of Birth Defects system per birth or per defect. However, it is the least accurate, missing up to 25-50% of certain birth defects.
Coverage of the Population. The surveillance component of the SCBDP should cover all births and fetal deaths (approximately 55,000 annually) in South Carolina. A particular emphasis on prenatal ascertainment can be made possible through the collaboration and cooperation of the State's obstetrics and prenatal clinics, genetic centers, and pregnancy screening programs. Through the use of multiple active and passive methods of surveillance it should be possible to achieve >90% ascertainment of external birth defects (e.g., cleft lip, limb reduction defects, neural tube defects) and 50% of occult or internal birth defects (e.g., cardiac defects, renal malformations). Experience in the SC NTD Surveillance and Prevention Initiative (1992-1998) indicates that each method can be expected to find cases missed by other methods (Allen et al 1996). Vital Records and Hospital Discharge Data can be utilized as valuable secondary sources of ascertainment. Vital Records are also valuable in identifying cases born out of state and both sources may ascertain cases missed through active monitoring of prenatal screening and testing programs and hospital medical records.
Monitoring should be conducted population-wide in South Carolina without regard to race or ethnic background. While the sex of affected infants and racial/ethnic background should be included in the surveillance information for South Carolina, these factors should not determine which birth defects are selected for surveillance, prevention, or referral for services. The South Carolina racial makeup is 67.2% white, 29.5% black, 2.4% Hispanic, and 0.9% other (2000 US Census Bureau, published in 2001).
Based on prior studies, it is anticipated that certain birth defects will be seen more commonly in specific racial backgrounds. For example, neural tube defects occur more commonly in Hispanic subpopulations, less so in non-Hispanic whites, and least commonly in African-Americans.
Scope and Exclusions. The SC Birth Defects Program will be concerned with monitoring and prevention of major structural birth defects. Hence, minor birth defects, neurological conditions, mental retardation, autism, impairments of sight and hearing, metabolic disorders, excessive or deficient growth, and conditions related to prematurity are excluded. Major structural birth defects, i.e., those that are life threatening or require significant medical/surgical intervention, include malformations (defects in the formation of body structures), deformations (altered form or position of body structures caused by mechanical forces before birth), and disruptions (defects caused by destruction of a body structure once correctly formed).
Nomenclature and Coding. Existing systems for the classification, naming, and coding of birth defects are comprehensive and standardized. A simple and useful nomenclature for birth defects is based on the identification of the anatomical part involved and description of the alteration of that part (International Anatomical Nomenclature Committee, 1983). The anatomic systems are also used as the framework for organization and coding of the birth defects in the International Classification of Diseases (ICD). The clinical modification (ICD-9-CM 2002) as published by the U.S. Government allots 20 categories with accompanying numerical codes (740-759) for birth defects. ICD-10-CM is currently in preparation. When it is released, it will replace ICD-9-CM. The original three-digit codes have now been expanded to six digits by the British Paediatric Association (1987) and CDC modifications (1989) allowing for additional categorization of birth defects (Rasmussen and Moore 2001).
VI. Utilization of Birth Defects Monitoring Data
The Task Force recommends that the SC Birth Defects Program not exist merely for the purpose of recording the numbers and types of birth defects. Rather, the SC Birth Defects Program should be a robust program that becomes fully integrated into the public/private health system of the State and is fully accessible for purposes of referral for services, child health data integration, epidemiologic investigations, response to public concerns, basic research into causes, establishment and monitoring prevention programs and other related activities.
Child Health Data Integration. It is recommended that the SC Birth Defects Program fully cooperate with development of an integrated system of child health data. Integration could improve accuracy, usefulness, and accessibility. Ultimate operating costs are reduced through elimination of duplication. It simply makes no sense to maintain separate, duplicating, overlapping databases for similar perinatal and pediatric purposes. This might include existing databases for modules such as: Electronic Birth Certificate, Metabolic Screening, Birth Defects Surveillance, Immunization, Autism, and Electronic Medical Record. Future models related to child health could conceivably include: Dental, Special Needs, Education, Family Social Services, and Health Care Finance.
Linkage is not the same as integration. South Carolina has no child health integration with separate, differing systems at Vital Records, Metabolic Screening, and Hearing Screening. DHEC is upgrading the EBS system in 2003-2004 and may upgrade the dated Metabolic Screening system also. The Hearing Screening system is modern, set up in 2000. Data Linkage occurs at the SC Office of Research and Statistics (ORS), Health and Demographics Section, Budget and Control Board. Few states have accomplished true integration - it is technically challenging. Leading states in integration include Maine (ChildLink System), Connecticut, Rhode Island, and Missouri.
Confidentiality and privacy are critical with sensitive, integrated information. The family should completely control access for any use with identifiers and with proper "compartmentalization" such as that for Providers. Modern secure encryption and technologies such as a "smartcard" can assure this. However, records and information can readily be accessed and transferred as families desire.
Timeliness of Monitoring. Since monitoring is used as the initial point of contact for the prevention of recurrences of certain birth defects, it is important to ascertain affected infants in a timely manner. In the existing neural tube defects prevention program, the goal is to identify >90% of NTD cases sufficiently early to permit prevention counseling within three months of delivery. It is for this reason that active surveillance is most beneficial and Vital Records and Hospital Discharge Data are least beneficial because of the delay (3-8 months) in reporting via these two latter systems.
Rapid ascertainment is also key to early referral for intervention, treatment services, and for prevention. For defects requiring immediate surgery or other interventions or combinations (hydrocephaly, open body wall defects, NTDs and more severe limb reduction defects) these referrals are routinely arranged prior to initial discharge from the newborn nursery. For other birth defects (less severe limb defects, cardiac defects), there may be considerable variability in referral for surgery or other services depending in large measure on the evaluation by the infant's primary physician.
A number of environmental agents, including infections, drugs and chemicals, and radiation, have been implicated as causes of birth defects. The epidemic of limb defects that followed introduction of the sedative, Thalidomide, into the drug market in Europe and certain other countries in the late 1950s, and the epidemics of heart and eye defects that followed in the wake of the 1964 pandemic of German measles, are perhaps the two events that most highlighted the potential for environmental agents to cause birth defects. The establishment of birth defects surveillance programs first arose as a response, in part, to these two events. This having been said, it should be noted that environmental agents have been shown to cause only about 10% of birth defects.
The Birth Defects Program has several major functions related to environmental issues. First is the potential, through monitoring, to serve as a first warning of introduction of a birth defects-causing agent into the environment. Second is to serve as the agency that responds to public concerns about clusters of birth defects, which might occur in communities or population subgroups. The third is to provide surveillance and demographic information for research teams investigating environmental agents that might cause birth defects, gene-environment interactions, the impact of certain industrial or agricultural water or byproducts on birth defects, and other similar issues.
Environmental studies that would be of potential public health concern in South Carolina include the rates of birth defects in relation to hazardous waste sites and the Savannah River Site and the rates of birth defects to parents with occupational exposures and agricultural exposures. Additionally, the concerns about exposures to environmental mercury, drugs, herbs and pharmaceuticals would be amenable to study through collaboration with the Birth Defects Program. The availability of accurate information about birth defect occurrences within South Carolina would facilitate research projects which could be directed toward the various sites and routes of exposure. These projects would probably best be conducted as externally funded research activities in cooperation with the Birth Defects Program rather than being incorporated as basic elements of the System. The Centers for Disease Control and Prevention (CDC) in Atlanta did not have poignant examples of this type of monitoring which has resulted in the identification of teratogenic exposure sites in other states. As such, the public health benefit, of actively investigating these environments in the absence of data suggesting such studies would prove fruitful, remains to be demonstrated.
The Task Force advocates for the establishment and maintenance of a birth defects program that will facilitate research studies and will permit a more proactive search for factors that cause, prevent, or contribute to the development of birth defects, including the areas identified above. The system should be friendly to research applications within the bounds of privacy and confidentiality that would pass muster with human subject research standards set forth by the United States Department of Health and Human Services. Such research would be funded by competitive research grants through federal and private agencies and foundations, and all such studies should be required to obtain approval through an approved Institutional Review Board (IRB) for human subject research. High quality research of this kind could potentially be of significant value to the people of South Carolina and the system should thus be constructed to facilitate research studies.
From a research perspective, it would be desirable to establish the Birth Defects Program in such a way that we facilitate study of genetic and nongenetic factors as well as gene/environment interactions. While both genetic and nongenetic factors seem to be important, and interactions between the two can be complex, relatively little is presently known about specific interactions. This could be facilitated by putting in place the systems for sample collection, which permits interested families to participate in relevant studies of specific birth defects with a minimum of redundancy in data collection and completion of forms and questionnaires.
Orderly, sequential, and predictable formation of anatomical structures constitutes the essential and unique activity of embryonic life. Although the processes involved are complex, the broad concepts of embryologic development are understood and the anatomical transformation at gross and microscopic levels has been substantially documented. It is widely assumed that pathological processes set in motion by gene mutations or environmental insults or some combination of these two forces can disturb the primary work of embryogenesis, resulting in malformations and other structural birth defects.
Numerous considerations argue for the study of birth defects. Major structural birth defects are common, being present in 2-3% of live born infants and 4-5% of children at age 5 years. Major birth defects are serious, now recognized as the leading cause of death during infancy in developed countries. They are costly and major contributors to chronic disability. The costs of most common birth defects in the United States are in excess of 5 billion dollars annually.
The causation of structural anomalies is poorly understood with the cause in 40-70 percent of cases unknown. Almost all chromosome aberrations cause birth defects as do a number of large single gene mutations. A smaller number of environmental insults have been linked to birth defects, causing collectively less than 10% of all defects. Multifactorial causation, the combination of genetic predispositions and environmental influences, is responsible for several of the more common isolated birth defects. Study of the causes and the modifying factors that determine the occurrence and severity of malformations is essential to the development of prevention strategies.
It is the intent of the Task Force that data generated by the South Carolina Birth Defects Program will be available to bona fide research into the distribution, causes, and prevention of birth defects in South Carolina. Thus, the South Carolina Birth Defects Program should develop mechanisms for the timely review and response to applications for data and for assuring that confidentiality of data will be protected (see VII below).
Health Data Reporting
The South Carolina Birth Defects Program will develop mechanisms for the reporting of data to local, state and federal public health authorities, and to the general public. Such reporting should occur at least annually and should be in a format that can be used for regional and national comparisons and for detection of trends in birth defects occurrence.
It is anticipated that reporting of birth defects data will give visibility to the South Carolina Birth Defects Program and may provide the stimulus for further research related to birth defects.
VII. Confidentiality and Privacy
Rigorous protection of confidentiality and privacy is essential in the SC Birth Defects Program. Numerous existing federal and state laws, and health department regulations, routinely protect confidentiality. South Carolina has strong procedures in place regarding public health data, including newborn metabolic screening and hearing data.
The SC Birth Defects Program system must develop strict confidentiality protections regarding the monitoring activities. Access to Birth Defects Program information by third parties, including non-approved providers, insurance companies, or other unauthorized persons or entities, is unacceptable and must be strictly prohibited.
Public health uses should be regulated by the Department of Health and Environmental Control. Any research should require application, review, and approval by DHEC's Institutional Review Board (IRB), which carries an exceptionally strict process. In general, research without identifiers should not require parental informed consent. In general, research with identifiers should require parental informed consent. South Carolina has numerous precedents for use of health data within these guidelines.
The National Center for Birth Defects and Developmental Disabilities at the CDC strongly recommends against an informed consent, or active "opt-in," for birth defects surveillance, and no state requires it. Birth defects surveillance is an essential public health function, serving society's interest. In fact, surveillance activities are exempt from the federal Health Insurance Portability and Accountability Act of 1996 (HIPAA) confidentiality regulations, as are agencies (e.g., hospitals and doctors) providing information authorized or required by a surveillance system. Nonetheless, consideration should be given to permitting an "opt-out" provision for parents who object to inclusion of their affected infant in the Birth Defects Program database.
Parental consent is not required by any state for Birth Defects Programs to trigger a contact to the family to offer services, either through the provider or directly.
When interventions proceed into actual provision of services for the child, parental assent or formal consent is implicit, if not explicit. It is uncommon that families refuse such beneficial services. The American Academy of Pediatrics, Social Services systems, and the courts have routinely held that the child has rights to such medical services. Traditionally, families are accorded the prerogative to select the best services for their child, and some services may on occasion be refused.
Therefore, the Task Force recommends a monitoring system in which parents may elect to opt-out (on a written form) of the program after being given information on how the data will be used and what services would be available to them.
The Task Force recommends that funding for the operation of the SC Birth Defects Program be derived from a fee as determined by DHEC to be appropriate and that one time nonrecurrent costs to set up the program be requested as a State appropriation. Alternative sources for base and supplemental funding include grants and contracts with federal, state, and nongovernmental agencies and organizations. Projected recurring and nonrecurring program costs are:
Regional staffing (225,546)
Fringe benefits (105,701)
Consultant: epidemiology (20,000)
Consultant: clinical genetics (25,200)
Out of state (2,636)
Computer system support/maintenance 50,000
Office supplies 15,000
Operation of the Birth Defects Reduction Program will require initial and continuous funding. The Commissioner of the Department of Health and Environmental Control may seek financial support from multiple sources, including, but not limited to: a) appropriation of general state funds, b) fees, c) federal grants or cooperative agreements, d) academic agreements, e) arrangements with other state agencies involved with maternal and child health, f) matching federal funding, g) private and charitable grants, and h) other sources.
The Task Force recommends that legislation be drafted for the 2003 session of the General Assembly of South Carolina which 1) authorizes establishment of the South Carolina Birth Defects Program within the Department of Health and Environmental Control, 2) provides for DHEC regulatory power to develop operating procedures, measures for protecting confidentiality and rights of individuals with birth defects, and guidelines for use of birth defects monitoring data for research, and 3) provides for funding for establishment and ongoing operation of the Program. (See draft language of legislation submitted to Legislative Council, Appendix 3.)
APPENDIX # 1
A JOINT RESOLUTION TO CREATE A BIRTH DEFECTS SURVEILLANCE TASK FORCE, TO PROVIDE FOR ITS MEMBERSHIP, PURPOSE, AND STAFFING, TO REQUIRE THE COMMITTEE TO REPORT ITS FINDINGS AND RECOMMENDATIONS TO THE GENERAL ASSEMBLY BEFORE FEBRUARY 15, 2003, AND TO ABOLISH THE TASK FORCE UPON SUBMISSION OF ITS REPORT.
Whereas, birth defects are the leading cause of infant mortality in South Carolina, accounting for more than twenty percent of all infant death; and
Whereas, many of these deaths could be prevented through proper health care and prenatal care; and
Whereas, targeting communities and populations who are at risk and providing public information are vital to birth defect prevention efforts; and
Whereas, surveillance is necessary to track the incidence of birth defects so that these at-risk communities and populations can be identified for prevention efforts; and
Whereas, a task force to review and make recommendations to the General Assembly would assist in providing the information necessary to develop an effective, comprehensive birth defects program in South Carolina. Now, therefore,
Be it enacted by the General Assembly of the State of South Carolina:
Birth Defects Surveillance Task Force
SECTION 1. (A) There is created the South Carolina Birth Defects Surveillance Task Force to be composed of:
(1) a representative from each of the following to be appointed by the Governor:
(a) March of Dimes, South Carolina Chapter;
(b) South Carolina Perinatal Association;
(c) Greenwood Genetic Center;
(d) South Carolina Hospital Association;
(e) South Carolina Medical Association;
(f) American Academy of Pediatrics, South Carolina Chapter;
(g) Family Connection of South Carolina, Inc.;
(h) Medical University of South Carolina;
(i) University of South Carolina School of Medicine;
(j) South Carolina Protection and Advocacy for People with Disabilities;
(k) American College of Obstetrics and Gynecologists, South Carolina Chapter;
(l) South Carolina Heart Institute;
(m) Family Voices of South Carolina.
(2) directors of the following state agencies or their designees:
(a) Department of Disabilities and Special Needs;
(b) Department of Health and Environmental Control;
(c) Department of Health and Human Services;
(3) a representative of the Office of the Governor;
(4) a member of the Senate Finance Committee to be appointed by the chairman of the committee;
(5) a member of the House Ways and Means Committee to be appointed by the chairman of the committee;
(6) a member of the Senate Medical Affairs Committee to be appointed by the chairman of the committee;
(7) a member of the House Medical, Military, Public and Municipal Affairs Committee to be appointed by the chairman of the committee.
The Governor shall designate the chairman of the task force.
(B) The task force shall study birth defect surveillance methods, programs, and procedures and shall develop recommendations for the establishment of a statewide birth defects surveillance program.
(C) The task force shall submit a report containing its findings and recommendations to the Governor, the President Pro Tempore of the Senate, and the Speaker of the House of Representatives before February 15, 2003. Upon submission of the report the task force is abolished.
(D) The task force must be staffed by personnel as provided and assigned by the President Pro Tempore of the Senate, by the Speaker of the House of Representatives, and by the Governor.
SECTION 2. This joint resolution takes effect upon approval by the Governor.
Ratified the 25th day of April, 2002.
Approved the 1st day of May, 2002.
APPENDIX # 2
Dr. Roger E. Stevenson
Greenwood Genetic Center
Task Force Chairman
The Honorable Joel Lourie
March of Dimes, SC Chapter
Dr. James Scardo
South Carolina Perinatal Association
Chairman, Legislation Subcommittee
Ms. Faye Bible
South Carolina Hospital Association
Dr. Steven Jones
South Carolina Medical Association
Dr. Robert Newell
American Academy of Pediatrics, SC Chapter
Co-Chair, Operations and Resources Subcommittee
Ms. Connie Ginsberg
Family Connection of South Carolina, Inc.
Chairperson, Advocacy and Family Issues Subcommittee
Dr. Shashidar Pai
Medical University of South Carolina
Chairman, Data Utilization Subcommittee
Dr. Robert Best
University of South Carolina School of Medicine
Chairman, Environmental Issues Subcommittee
Gloria M. Prevost, MSW
South Carolina Protection and Advocacy for People with Disabilities
Dr. Roger Newman
American College of Obstetrics and Gynecologists, SC Chapter
Dr. Philip Saul
South Carolina Heart Institute
Ms. Vera New
Family Voices of South Carolina
Dr. Stan Butkus
Department of Disabilities and Special Needs
Dr. Lisa Waddell
Department of Health and Environmental Control
Co-Chair, Operations and Resources Subcommittee
Ms. Linda E. Price
Department of Health and Human Services
Ms. Virgie R. Chambers
Office of the Governor
The Honorable John E. Courson
Senate Finance Committee
The Honorable Lanny F. Littlejohn
House Ways and Means Committee
The Honorable Robert W. Hayes, Jr.
Senate Medical Affairs Committee
The Honorable Anne J. Parks
House Medical, Military, Public and Municipal Affairs Committee
On motion of Senator COURSON, with unanimous consent, ordered printed in the Journal of Friday, February 21, 2003.
The following Bill was read the third time and ordered sent to the House of Representatives:
S. 395 (Word version) -- Senators Hayes, Gregory, Short and Peeler: A BILL TO AMEND ACT 469 OF 2000, RELATING TO SCHOOL DISTRICT 1 OF YORK COUNTY, SO AS TO REVISE THE DATE ON WHICH ELECTED MEMBERS OF THE BOARD SHALL TAKE OFFICE.
By prior motion of Senator HAYES
The following Joint Resolution, having been read the second time, was ordered placed on the third reading Calendar:
S. 408 (Word version) -- Senators Courson and Drummond: A JOINT RESOLUTION TO AMEND ACT 381 OF 2002, RELATING TO THE ARMED FORCES OF THE UNITED STATES VETERANS MONUMENT, TO INCLUDE THE STATE FLAG OF SOUTH CAROLINA AS ONE OF THE FLAGS TO BE FLOWN AT THE MONUMENT.
By prior motion of Senator COURSON, with unanimous consent
On motion of Senator HAWKINS, with unanimous consent, the Senate stood adjourned out of respect to the memory of Julie Smith Goethe, outstanding educator from Spartanburg County, who passed away on February 19, 2003.
At 11:30 A.M., on motion of Senator COURSON, the Senate adjourned to meet next Tuesday, February 25, 2003, at 12:00 Noon.
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