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4 Incorporating Care for Birth Defects into Health Care Systems Hearth care systems and the services they provide vary widely among, and even within, countries. National and local priorities, infrastruc- ture, and financial and human resources each play a role in deter- mining the extent and speed with which interventions addressing birth defects can be incorporated into primary care and thus made widely avail- able. This chapter describes strategies for introducing interventions for the prevention and care of birth defects into health care systems in developing countries, the coordination of these strategies at the national level, and the building of infrastructure to support and strengthen reproductive health care and reduce the impact of birth defects. STRATEGIES FOR ADDRESSING BIRTH DEFECTS Several low-cost preventive strategies for reducing the impact of birth defects, described in Chapter 3 and summarized in Table 4-1, can be made widely available through community health programs. This section de- scribes the steps to achieve this goal, also care for children who have birth defects, and, for countries that have been successful in lowering infant mortality through effective health care services, the introduction of genetic screening and diagnosis for common and severe birth defects. Enhancing Current Reproductive Health Services Primary health care in almost all settings includes maternal and child health (MCH) services, which include reproductive health. The services 122
INCORPORATING CARE FOR BIRTH DEFECTS TABLE 4-1 Interventions to Reduce the Impact of Birth Defects 123 Program Area Reproductive health care and family planning Risk Factors To Be Addressed Before and During Pregnancy Interventions Unwanted births Pregnancy in women over 35 Preexisting maternal diseases Micronutrient deficiencies Exposure to teratogens Iodine Folic acid Rubella Alcohol use Teratogenic medications Environmental teratogens Family planning information Education for couples on birth defects Neonatal care Universal access to iodized salt Fortification of staple food with folic acid Vaccination Public health messages and . . . . course. sing on. .~m~t~ng or avoiding alcohol use and . .. . avowing teratogen~c medications and environ- mental teratogens Regulations on environ- mental teratogens themselves vary with the needs and resources of the community and with the level of access to secondary and tertiary care for more complex and difficult health conditions. Primary, secondary, and tertiary care Primary care is provided at the local level. There are very few nurses and physicians in most developing countries (see Figures 4-1 and 4-2), and most of them practice in urban settings. The majority of people receive care at community health centers served by nonspecialized health workers or by nurses or physicians linked to specialist resources at secondary and tertiary health centers. The introduction or expansion of prevention and care for birth defects in developing countries is best undertaken in primary health care facilities. Although primary care providers may have rudimentary training and few medications or diagnostic tools, they can nonetheless provide impor- tant preventive services, such as family planning, information on the causes of birth defects, micronutrient supplements, immunization, and guidance on avoiding teratogens. By forging strong linkages with secondary, tertiary, and national health care centers and by collaborating with nongovernmental or- ganizations (NGOs) and international agencies, primary care services can increase their ability to address birth defects within communities. Secondary care is provided in district or regional hospitals, which are staffed by general physicians, medical technicians, and nurses. These facilities
124 REDUCING THE IMPACT OF BIRTH DEFECTS 1 000 900 o 800 co Q 700 o Q 600 Go 0 500 o ~, 400 Q a, 300 u, z 200 100 ~ ~ ~ ~ cat ~ ~ ~ ~ ,~ c ~ ~ ~ co co co co co ~ co Oh ~ CO CO ~ ~ s ~ Q ~ ° ~ 'A `o ~ ~ ~ E ~ m ~ C ~ ~ ~ ~ ~ ._ CO S ,_ ~~ ,~ , s , N ~ C Cm ,~ ~ ~ Cd C s E c,3 it, O ~ ' m E t ~ m FIGURE 4-1 Number of nurses per 100,000 population in selected countries. Black bars represent developed countries. Gray bars represent developing countries. SOURCE: World Health Organization, 1998a. 600 - 500 - o O 400 lo lo lo - c .m to o) c 300 - 200 - 100 - O- . _ _ _ ~ ..... ..... .... ..... .... .... ..... - ..... ..... - 1:::::~ [::::::1 1:::::1 1:::::1 F::::::l t::::~ 1::::::~ I:::::1 1:::::1 1!~ (D or ~ c ~ ~ ~ c ~ ~ ~ c ~ ~ ~ A (D ~ ~ ~ ~ ~ c ~ (D ~ c c ~ ~ ~ ~ ° c' ~ ~ c ~ ~ ~ `' ~ o m `~ ~ ~ ~ C C ~ ° ° ~ ~9 -C U' `6 E (I) ~ N ~ ~ Y ~ (G ~ ~ ~ C FIGURE 4-2 Number of physicians per 100,000 population in selected countries, 1990-1998. Black bars represent developed countries. Gray bars represent devel- . . Oplng countries. SOURCE: World Health Organization, 1998a. can treat more severe and complex medical conditions and provide routine surgery; they also have access to diagnostic equipment and laboratory facili- ties. District hospitals can expand the services offered at primary care centers by providing essential medications and vaccinations on-site and by using mobile care teams. Medical professionals from secondary facilities can sup- port and train community health care workers, make regular visits to primary
INCORPORATING CARE FOR BIRTH DEFECTS 125 care centers to monitor their reproductive health care, review more difficult cases, and assist in identifying patients in need of referral. Training of com- munity health workers can include, along with the care of other conditions, instruction on the prevention of birth defects, counseling and recording of family histories, and identification of patients requiring referral. Tertiary care, the most specialized health care, is provided in larger, urban hospitals. Because health care resources are limited and the operating costs of tertiary centers are high, these facilities are limited in number in developing countries. As part of reproductive care for patients referred from primary care centers, tertiary care hospitals can provide genetic screen- ing (preconceptional, prenatal, and postnatal) and surgery to correct cer- tain birth defects. Tertiary care centers can also serve as facilities for collect- ing epidemiological data, providing staff training, creating and distributing educational health materials, and conducting clinical and operational re- search (WorId Health Organization, 19991. Support of primary and secondary health care facilities by tertiary centers can contribute to the development and maintenance of affordable, good-qual- ity health care. Studies conducted at tertiary centers can identify common birth defects and their risk factors, also preventive strategies, and effective treatment and rehabilitation. Most important is the evidence base for determining na- tional health priorities and community health care services. Moreover, training curricula developed at these facilities can be adapted for staff at secondary and primary care levels (Lansang and Olveda, 19941. Capacity for expanded services Provision of comprehensive preventive and therapeutic care for birth defects is a long-term goal for most countries. However, the low-cost preven- tive strategies recommended in this report warrant immediate evaluation and incorporation into primary care services. Continuing progress toward com- prehensive services can be achieved through an iterative process that involves introducing an intervention that has been proven affordable and effective in a similar setting, then evaluating and improving its effectiveness in the local setting all with support and oversight from secondary and tertiary centers. Involving the relevant nonhealth sectors education, social services, indus- try, and environment in the development of interventions can advance progress toward common goals. International organizations can also assist countries in the implementation of cost-effective programs. Laboratory standards The diagnosis of most genetic disorders and birth defects requires spe- cialized tests. Because specimens are generally processed in regional labora-
26 REDUCING THE IMPACT OF BIRTH DEFECTS tories to maintain quality and cost control, systems are needed for the transportation of specimens from primary and secondary health centers to tertiary health centers (WorId Health Organization, 19991. Laboratory staff should be accredited, and facilities and performance monitored, in order to maintain accurate, reliable diagnostic services. Standardization of labora- tory tests requires external quality assessment, training, and education (Bunyaratvej, 1 9991. T· ~ raining Development of staff expertise and provision of ongoing training are essential to improving reproductive health care. The framework for train- ing, as for specific interventions themselves, should be based on evidence of proven effectiveness and affordability. Important areas for training include clinical practice or treatment, epidemiology, counseling, rehabilitation, and operational research. Collaborations Alliances between public health care providers and private physicians, educators, community organizations, community-based NGOs, and reha- bilitation programs can improve the effectiveness of interventions in reduc- ing the impact of birth defects. Private Physicians. Health care services in several Latin American coun- tries and in India have been privatized over the last two decades, so that much of primary care in these countries takes place in the private sector. In India, for example, private physicians provide about half of all primary care and as much as 80 percent in some states. Even the rural and urban poor consult private physicians because they are accessible, charge a relatively low consultation fee, and are widely perceived as providing better care than the public health system (Chisholm et al., 20001. Educators. Health education has been incorporated into many school curricula. This should include instruction on reproductive health and well- being and the locally relevant risks for birth defects. Community Organizations. Although relatively few and often poorly funded, community organizations can facilitate mutual support and sharing of experience among patients, families, and caregivers. NGOs and parent groups can together establish facilities such as vocational training centers, day care centers, and supported-living facilities staffed by community vol- unteers. By educating the community about birth defects, these local groups can change negative attitudes and draw the attention of policy makers to the needs of affected individuals and their families.
INCORPORATING CARE FOR BIRTH DEFECTS 127 NGOs. For several community-based NGOs, health care services are part of a broad development agenda. These organizations are found most commonly in less developed regions that tend to be underserved by govern- ment-provided health care services, such as India and sub-Saharan Africa. Community-Based Rehabilitation (CBR) Programs. These low-cost pro- grams coordinate medical guidance and community resources in the reha- bilitation of children and adults disabled by birth defects, allowing them to live as normally as possible (see Chapter 31. Some of the most successful CBR programs are able to mainstream disabled children into public educa- tion at the earliest opportunity and assist them in the transition from school to employment. In addition to providing long-term care and support for patients and their families, CBR addresses the isolation and stigma often experienced by disabled persons. These programs can be linked to and supported by institutional and hospital-based programs to create a compre- hensive rehabilitation service. International Partnerships. Building the capacity of developing coun- tries to provide strong reproductive health care requires international contributions of expertise and resources. Two kinds of international part- nership that can be especially effective are professional societies and inter- . . . natlona" . organizations. The international community of health care professionals can advocate that birth defects receive attention from health policy makers commensu- rate with the contribution of the disorders to the overall burden of disease. Such attention is particularly important for conditions that result in stigma- tization. Professional societies can provide a realistic perspective to policy makers who are often reluctant to provide treatment and rehabilitation to patients unless they perceive an economic return to the community and can assist them in developing cost-effective health care policies. WHO has supported the implementation of interventions to reduce the impact of birth defects in developing countries, proposed guidelines for genetic services, and addressed ethical issues arising from genetic services (WorId Health Organization, 1998b, 1999, 20011. The United Nations Children's Fund (UNICEF) and the United Nations Development Pro- gramme have supported vaccination and other programs for the control of infectious diseases. Both organizations could also take an active role in reproductive health and the reduction of birth defects. Save the Children has initiated a global program on reproductive health in developing coun- tries. The World Bank and other development banks also have active pro- grams on reproductive health. In addition, the World Bank fostered devel- opment of the disability-adjusted life years (DALY) measure and the estimation of disease burden in the Global Burden of Disease Study (WorId Bank, 19931. This frontier could be further advanced with efforts to better estimate the disease burden of birth defects among children in developing
28 REDUCING THE IMPACT OF BIRTH DEFECTS countries, an area in which the evidence base is particularly limited. The March of Dimes has coordinated professional organizations in the develop- ment of international databases on birth defects, supported research, and has educated families and the general public on these disorders. To meet broad needs for family planning and other reproductive health measures, child survival, and HIV/AIDS care, five private volun- tary organizations ADRA (Adventit Development Relief Agency), CARE (Cooperative for Assistance and Relief Everywhere), PATH (Program for Appropriate Technology in Health), Plan International, and Save the Chil- dren have NGO Networks for Health. This consortium aims to improve health information and services in specific developing countries (Ashman, 20011. The Population and Family Planning Expansion Project, imple- mented by CARE and funded by the U.S. Agency for International Devel- opment, supports capacity building for family planning and reproductive health care. Initial projects combined community-based services with links to secondary and tertiary facilities to improve access to health care in difficult-to-reach rural and periurban communities. The project also pro- vides training for health care workers in contraceptive technology and counseling skills and for managers in enhancing supervisory, monitoring, and evaluative skills (Cooperative for Assistance and Relief Everywhere, 1999; Wilcox, 19991. Launching Public Health Campaigns An important component of some interventions involves education and public health messages on such issues as: · The importance of family planning, · Prevention of unplanned births for all women and for those over 35 years of age, unions, and · Awareness of the increased risk of birth defects in consanguineous . . .. . . . . · Prevention of iodine deficiency, · The need for folic acid supplementation, · Limited use or avoidance of alcohol consumption during pregnancy, · Avoidance of exposure to teratogenic medications and pollutants, · Control of rubella and other infectious diseases. Such public health campaigns can employ radio and television mes- sages and informational pamphlets. Important risks may also be addressed through plays and films that portray the avoidance of risky behaviors (Mohammed, 20011.
INCORPORATING CARE FOR BIRTH DEFECTS Introducing Genetic Services 129 Once a country has reduced infant mortality rates by incorporating the most cost-effective interventions into health care programs, there are guide- lines for evaluating its capacity and readiness to implement a genetic screen- ing and counseling program (World Health Organization, 2000a). Should such a program be found appropriate, the next step is to determine the locally important conditions to be screened and appropriate screening pro- cedures, so that accurate, reliable, and cost-effective services can be pro- vided. Genetic screening programs should be developed through a logical, orderly approach consistent with available resources, staff training and experience, the capability for diagnostic follow-up of those identified to be at high risk for a disorder, and the capacity of staff trained for counseling. Staff in primary care centers can identify patients to be screened or referred. Secondary and tertiary centers can provide genetic screening and counseling and, where necessary, follow-up diagnoses and treatment. The number of centers with the capacity for genetic screening will depend on the balance between accessibility of services and provision of equitable, cost-effective services for all segments of a population. In countries where there is an unusually high occurrence of certain genetic disorders, public programs can provide preconceptional screening to identify carriers, prenatal screening to detect fetal disorders, and early neonatal screening for high-risk pregnancies. Countries that support screen- ing for specific birth defects include Cuba, Iran, and South Africa. In many other countries, genetic screening is limited to middle- and high-income patients with access to private medical practices. Finally, to be successful, genetic screening programs must be supported and championed by political and religious leaders and maintained through strong commitment by na- tional and local health departments. NATIONAL POLICY AND LEADERSHIP National public health policy should address preventable risk factors for birth defects, some of which are more common in developing than in developed countries (see Chapter 2~. National governments can lead efforts to identify and strengthen interventions that protect against these disorders. Strategies for Intervention When an effective program of primary care is in place, even in resource- poor countries, it can be expanded successfully to incorporate additional interventions (including, where appropriate, genetic screening) into basic reproductive care. Incorporating these interventions will, however, involve
130 REDUCING THE IMPACT OF BIRTH DEFECTS governments in decisions concerning budget priorities. Most important to this process will be having accurate data on the prevalence and disease burden of specific birth defects and on the cost-effectiveness of interven- tions that are under way in comparable settings (discussed in detail in Chapter 31. The specific interventions recommended in Chapter 3 that deserve uni- versal implementation include family planning, dietary supplementation with iodine and folic acid, control of infectious diseases, and avoidance of teratogens during pregnancy. Information on locally relevant teratogenic medications to be avoided should be conveyed to primary care providers, as well as to the general public; governments may also consider limiting access to teratogenic medications such as thalidomide. Exposure to mercury and other "erogenic pollutants can be reduced through collaborations between health departments and other government agencies to develop legislation on environmental protection and occupational hazards. Increased availability of genetic screening is likely to raise ethical issues that require resolution at the national level. The agreement reached on ethical dilemmas will vary with the social, religious, and legal traditions of each country and with the capacity of the health care system. Comprehensive programs that include prevention, treatment, and reha- bilitation of birth defects can be costly (Waitzman et al., 19941. However, where political will is strong, as in the example of thalassemia prevention and treatment in Iran (see Box 3-9), impressive gains can be made in ad- dressing birth defects with cost-effective interventions. Accurate epidemio- logical data and parental concern about thalassemia in Iran created a na- tional awareness of the societal burden caused by the disorder. Policy makers recognized the need for treatment and introduced it. The high cost of treatment then led to more affordable genetic screening and prevention of thalassemia (Angastiniotis et al., 1995; World Health Organization, 2000b). Public education on the causes, impact, and prevention of birth defects deserves the support of both government agencies and NGOs and can be provided through patient and family support groups and school-based initia- tives. National and international alliances of people with birth defects and their families provide valuable support and education for their members, health professionals, and the public (World Health Organization, 19991. Coordination of Services A key role for governments is coordinating the care provided by differ- ent tiers of the health care system. Support and oversight of primary care must be emphasized, along with connections to secondary and tertiary care through physicians and specialists at district and national facilities. Policies
INCORPORATING CARE FOR BIRTH DEFECTS 13 should be established to guide the progress of patients along established pathways as they seek genetic screening, surgery, or other advanced care. Although each community should define its own health care priorities, national policy can support this process by establishing a national program of basic reproductive care. Such a program should set uniform standards for training and performance; collect and interpret surveillance data; and establish networks of communication among health care providers, re- searchers, and policy makers. Priority setting National and local initiatives should be based on cost-effective inter- ventions. Since prevention is the most affordable and effective strategy for addressing birth defects, community health workers should be trained in the importance of educating young people, and women in particular, on nutritional, infectious, teratogenic, and genetic risks. Likewise, health care policies that target common, severe birth defects in a community make the most efficient use of limited resources. T· ~ raining Governments should establish standards for the training of personnel at all levels of health care to build a strong foundation for the primary care system. National training policies should also reflect the importance of continuing professional education for primary caregivers. Although train- ing may be organized by local health services, it can be encouraged through national policies that make available such resources as quality instruction, distance learning, lectures, workshops, and access to journals and the Inter- net. The need to reduce the impact of birth defects should be addressed in the training of professionals, including physicians, nurses, and technicians. Monitoring of health care delivery and outcomes Surveillance of birth defects and related control programs, including data collected in primary care settings, provides the evidence base for evalu- ating the efficacy of current care and practice. National policy should there- fore support the collection, analysis, and dissemination of information on health care outcomes (Lorenzo, 19941. I· ~ nternet communication As resources can be made available, a central internet site can be estab- lished to serve as a repository of information on reproductive health, child
32 REDUCING THE IMPACT OF BIRTH DEFECTS health, and birth defects. This gateway site can enlist the participation of professionals, public health organizations, and advocates worldwide. It can include recent findings from surveillance and operational research; stan- dardized versions of basic reproductive care, genetic screening and diagno- sis, and therapeutic services for common birth defects in different settings; evaluation of interventions for cost-effectiveness; and access to training packages for distance learning. The site can also facilitate communication among health care providers, researchers, and policy makers at national centers and in the communities they serve. Research A robust agenda of epidemiological and operational research is needed to inform and support primary care interventions aimed at reducing neona- tal mortality and morbidity due to birth defects (see Chapter 31. Research in the following areas should be given high priority: · Epidemiological studies to measure the prevalence and burden of disease caused by common and severe birth defects in national and local settings. Even where financial resources are limited, this basic information provides the evidence base for decisions involving the potential impact and , ... . . cost ot specific interventions. · Development of affordable surveillance and information systems for birth defects and evaluation of their reliability, validity, and feasibility. · Rigorous evaluation of the effectiveness in local settings of interven- tions proven clinically- and cost-effective in similar settings in the preven- tion and treatment of birth defects. Preconceptional, prenatal, and neonatal screening might also be evaluated in programs that target specific prevalent, severe, and treatable birth defects. In addition, operational research should evaluate affordable, effective strategies for rehabilitation of children with birth defects in low-resource settings. · Studies of the impact of health education programs for teenagers and young adults in terms of their awareness of the risk factors for birth defects, and on their behavior changes for a health pregnancy. · Studies of the long-term health and psychosocial impact of birth defects. Establishment of an operational research capacity can strongly support the planning and management of health care including reproductive health and reduction of the impact of birth defects. This is accomplished by pro- viding the data needed for setting priorities among health problems, for
INCORPORATING CARE FOR BIRTH DEFECTS 133 justifying a focus on health care, and for evaluating interventions for their effectiveness (Morrow and Lansang, 19911. Research programs could also promote the development of an international cadre of professionals focused on these issues in developing countries. Successful models for such a re- search program are the Fogarty International Center Training and Research Programs at the U.S. National Institutes of Health, the WHO Special Programme for Research and Training in Tropical Diseases, and the pro- gram on reproductive health initiated recently at Save the Children. Col- laboration on research associated with birth defects can be undertaken with a number of organizations in developed countries. National and local pro- grams focused on reproductive health care and specific birth defects can increase the capacity for health research. Two principal means of collecting epidemiological data for health care planning purposes are surveys and record keeping at the primary care level. In addition to surveys of the prevalence of specific birth defects among the general population, studies that attempt to describe how people seek family planning assistance or how patients with birth defects make use of different kinds of health care providers could be useful. Research on pathways to health care can identify areas for improvement in the efficiency of treatment and referral in health care systems. Programs such as the International Clinical Epidemiology Network strengthen epidemiological research skills. CONCLUSION Birth defects are an important and as yet poorly measured burden of disease in developing countries, but their burden on individuals is clear: the impact of birth defects is often severe, lifelong, demanding of a high level of care, and responsible for a substantial loss in quality of life for the patient and frequently the family as well. Epidemiological studies have provided some basic knowledge about birth defects in developing countries, includ- ing evidence of relatively high population prevalences, the contribution of various causes, and prospects for prevention. While the data are, on the whole, extremely limited, a variety of genetic, nutritional, infectious, and teratogenic causes are known. Many of these causes are preventable, and treatments can correct or reduce the impact of some birth defects, as can a variety of interventions involving education and rehabilitation. Nonethe- less, few resources are devoted to programs to prevent birth defects or treat children with birth defects in low-income countries. The need to reduce birth defects in the developing world calls for innovative and sustained public health efforts and financial commitments.
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