pp. 384-389 in Bioethics in Asia

Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute

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F10. Genetic Services in Latin America: Issues & Challenges

Victor B. Penchaszadeh.

Division of Medical Genetics, Beth Israel Medical Center and Albert Einstein College of Medicine, New York, USA; WHO Collaborating Center in Community Genetics and Education

Introduction

In this paper I discuss the development of medical genetic services in Latin America. The discussion addresses the main problems that have characterized the process and puts forth recommendations for the improvement in the provision of those services. The analysis is made in the framework of the historical, cultural and socioeconomic forces that have shaped Latin American societies as they exist today. It should be pointed out from the start that in spite of important common characteristics, significant differences exist between and within countries in all the features analysed. Space considerations force me to give only an overview, relying heavily on averages and general descriptions. The reader is reminded, however, that averages often tend to mask sizable differences between population subgroups according to socioeconomic status, cultural experiences, urban vs rural habitats, etc.

Population history and structure

Latin America, the American subcontinent south of the Rio Grande, was colonized largely by Spain and Portugal between the XVIth and the XVIIIth centuries, and today comprises Mexico, Central and South America and the Latin Caribbean, with a total of 22 countries and a population of approximately 500 million (1). Latin American populations have a great degree of ethnic and cultural diversity. At the time of the arrival of the Europeans in the XVIth century, there was a large and heterogeneous population of indigenous peoples, some of which had acheived a high level of cultural and economic development. The slavery market brought large numbers of Africans, particularly to the Caribbean and Brazil, and to a lesser degree to pockets of Central and South America. In the late XIXth century and early XXth century, Latin America was a land of immigration from all parts of Europe, and to a lesser extent from Asia. The racial admixture has been significant, with wide variations in different regions. Most current Latin Americans are mestizos between Europeans (primarily from South and Central Europe) and indigenous and/or African peoples, although a substantial proportion of the population is constituted by non-admixed Europeans. The indigenous population today totals about 40 million (slightly less than 10% of the Region’s population), 90% of which are concentrated in five countries: Bolivia, Guatemala, Peru, Ecuador and Mexico, where they constitute, respectively, 71%, 66%, 47%, 38% and 14% of those countries’ population (1). African Americans constitute the majority of the population in some Caribbean countries and a large proportion in Brazil , where 5% are Black and 40% mulattoes ( 2). The Region’s main languages are Spanish (21 countries, 330 million people), Portuguese (Brazil, 160 million people) and French Creole (Haiti, 7 million people). There are, however, many indigenous languages and dialects and, in fact, a significant proportion of indigenous peoples are monolingual in an indigenous language.

Health and living conditions

In spite of wide differences, most Latin American countries have medium-low annual per capita gross national products ranging from $1,500 to $6,000 (US per capita GNP: $21,000) (3). Up until the early 1970s most Latin American countries had strong public sectors controlling a sizable proportion of the resources. The economy, however, suffered badly in the 1970s due to mismanagement, corruption in the private and public sectors and incurrence in a huge foreign debt through loans that were not properly utilized and eventually became unpayable. In part due to the pressure of the creditors, over the past two decades there have been a series of economic transformations characterized by a downsizing of the state and the privatization of key sectors of the economy. This has brought a significant deterioration of standards of living for the majority of the population: in 1990 46% of the population of the Region was living below the poverty line, with a range between 25% and 75% in different countries (1). As it will become evident along this paper, social inequalities are at the heart of most of the deficiencies in the provision of health services in general and genetic services in particular.

Population: Characteristics and Trends (1)

In 1950, the population of Latin America numbered about 161 million; by 1995 it was close to 500 million and the projection for 2025 is 691 million. The growth rate varies from subregion to subregion but has generally declined to an average annual growth rate of 1.80 % of the population during the period 1990-1995. The crude birth rate has also declined from 42.5 per thousand population in the period from 1950-1955 to 25.7 per thousand in1990-1995, despite an increase in the population of childbearing age. The average annual number of births in Latin America in 1990-1995 was 11.8 million, about 9% of the world total (144 million). The total fertility rate has also declined from 5.86 per woman in 1950-1955 to 3.13 per woman in 1990-1995. However, the reduction in crude mortality and the increase in life expectancy at birth (from 51.3 years in 1950-1955 to 67.9 years in 1990-1995) have contributed to sustained population growth. Between 1995 and 2015 the population as a whole is expected to increase by 46%. In terms of age structure of the population, the proportion of under 15 years old was 33.8% in 1995, compared with 21.8 % in North America.

The population in Latin America is steadily becoming more urbanized: the urban population grew from 41.7% of the total in 1955 to 74.5% in 1995, with 30% of the population living in cities of 1 million or more . It is predicted that 84.6% of the population will live in urban areas by 2025.

General health indicators (1)

The infant mortality rate (IMR) has generally experienced a significant decline in most countries in LA. In 19995 the IMR in LA as a whole was 47 per thousand, compared to 8 per thousand in North America, 62 per thousand in Asia and 95 per thousand in Africa. This average, however, masks significant differences between countries: while on one extreme Cuba’s IMR is under 10 per thousand, at the other end Bolivia’s is over 75 per thousand and Haiti’s is over 100 per thousand. There are also important differences within countries, indicating marked domestic inequalities. These differences are closely linked to sociodemographic variables (infant’s sex, mother’s age and education, spacing between births and place of residence) as well as socioeconomic variables (social class, housing conditions, etc). A fact that is clearly relevant to the topic of genetic services is that as the infant and childhood mortality rates drop, the principal causes of death change, as causes linked to poverty (infections and malnutrition) coexist now with congenital anomalies, chronic and degenerative diseases, which are on the rise.

Reproductive health

As was already mentioned, total fertility has been declining for the past two decades, particularly in the 35-and-over age groups. The proportion of births at maternal ages over 35 has a median of 13.5% and ranges from a low of 4.3% in Cuba and a high of 22.5% in Peru (1). This compares with a 5% in developed countries. In the area of reproductive health two problems are of serious concern. One is the deficient access to reversible contraceptive methods and the low quality of family planning services (4), with only a few countries having defined national-level objectives for contraceptive coverage. In most countries the prevalence of use and access to contraceptives is under 50% of women of reproductive age in union.

The second major reproductive health problem that has a direct relevance to genetic services is the criminalization of induced abortion. Essentially because of the influence of an ultraconservative catholic church and a tradition of male domination and authoritarianism, LA is one of the few remaining areas of the world in which elective abortion is largely illegal. As is well known, however, the criminalization of abortion does not reduce the frequency of the procedure, which in LA has a rate of 65 per 1,000 women of reproductive age, implying a ratio of at least one abortion for every two or three births (5). On the other hand, the penalization of abortion forces women to undergo the procedure in unsafe conditions and contributes to make this the leading cause of maternal mortality in the subregion. One out of every four maternal deaths in LA is accounted by illegal abortion (5, 6). Although there are marked differences among countries, over half have maternal mortality rates above 100 per 100,00, compared with 4.0 per 100,000 in Canada. Thus, the rates in Haiti, Bolivia and Peru are 75 times greater than that of Canada and 12 times greater than that of Costa Rica (1). Fortunately, there are recent signs in some countries that prohibitive laws are been relaxed.

Health care services and prevention

In most Latin American countries health services are financed either by the public sector, the semiprivate social security system or the private-for-profit sector. The medium-and-low-income individuals (roughly 80% of the population) cannot afford the private sector fees and are covered either by the social security system or the public sector, according to type of employment. The average annual per capita health expenditure in Latin America in 1995 was only $105, compared with $1,860 in the established market economies and $142 in the former socialist countries of Eastern Europe. The figure for Latin America, still, fares better than the ones for the Arab Middle East ($77), Sub-Saharan Africa ($24), India ($21) and China ($11) (3). These average figures, however, mask gross inequalities between the wealthier 10% of the population who spend at rates similar to developed countries, and the immense majority who has very limited coverage. Over the recent years there has been a trend toward privatization of health care which is having the effect of further marginalizing large sectors of society from decent health care coverage. These structural changes in the health sector reflect the lack of political will by governments in ensuring equitable health care and further undermine the notion of health care as a human right. Furthermore, health resources are unequally distributed, favouring excessive specialization and high technology medicine in tertiary centers rather than cost effective primary care-centered medicine.

Epidemiology of birth defects and genetic diseases

A number of studies over the past two decades have consistently shown that the prevalence of birth defects and genetic diseases in Latin America is similar to other regions of the world. Congenital malformation registries in Mexico, Central America, Cuba and South America (7-9) show prevalences at birth of 2-3%. Mendelian diseases have global frequencies similar to industrialized countries. Geographic and time clusters of specific anomalies are well documented. Population factors such as consanguinity and founder effects have determined high prevalence of some dominant and recessive conditions in many parts of the region (10). Hemoglobinopathies, particularly sickle cell anemia, are a significant public health problem in the Caribbean and Brazil (11). The relatively high proportion of pregnancies of advanced maternal age determines an excess of births with chromosome anomalies, particularly in some rural areas. Conditions of genetic susceptibility, such as diabetes, cancer, coronary disease, mental illness and others, have similar frequencies as in industrialized countries.

Medical genetics services

The following description generalizes on the situation prevalent in all Latin American countries, except Cuba, allowing however for a number of significant variations that space considerations bar form describing in detail. The situation in Cuba is clearly different in a number of ways due to it’s distinct sociopolitical organization and will be described separately.

Against the general background outlined above, genetic services in Latin America have developed slowly and with several distorsions (12). Medical geneticists trained in developed countries, mostly in the USA, have developed services centered in teaching hospitals usually as part of research projects, with an emphasis in clinical genetics, dysmorphology, cytogenetics and prenatal diagnosis of chromosome anomalies. The total number of trained medical geneticists in Latin America appoaches 1,000 professionals. (13) In most major cities tertiary care hospitals count with clinical genetics sevices including cytogenetics. Biochemical genetics laboratories for the diagnosis of inborn errors of metabolism, on the other hand, are scarce. DNA based diagnosis is only incipient in few centers and for very few conditions. The referral systems for the study of patients are largely informal. Government indifference and, in some cases outright resistance to fund genetic services have driven genetic programs to the private sector, catering to the wealthy sectors of the population who can pay for the services. This has led to an unwellcome commercialization where the sense of priorities according to need is lost in the sea of the search for profits. Population-based prevention programs are non-existent, except for newborn screening programs for phenylketonuria and congenital hypothyroidism in a few cities (13).

Very few medical schools have courses in clinical genetics, which leads to a poor understanding by health professionals about the possibilities of genetics in contributing to the prevention and care of disease. This deficiency includes health officials who should be responsible for running public health programs on birth defects and genetic diseases (13).

As mentioned above, some countries have enacted laws for the compulsory screening of newborns for phenylketonuria and congenital hypothyroidism. These laws were passed in most countries after strong lobbying from commercial laboratories interested in the business and usually with no financial and organizational provisions for the proper follow-up of abnormal initial screening results, localization of patients for confirmation of the diagnosis and long-term treatment of affected infants. No serious cost-benefit studies have been performed to determine priorities in the setting up of newborn screening programs nor in the selection of conditions to be screened: it is well known, for instance, that phenylketonuria is much less frequent the mixed Latin American populations than in Europe. Furthermore, states have abdicated of their duty to control the quality of laboratory procedures, opening the way to services of poor quality and low performance. These pitfalls render newborn screening programs in Latin America vulnerable to criticism for not being atunned to the real needs of the population (13).

As in other regions of the world, in Latin America prenatal diagnosis is visualized as the most practical application of the current stage of development of genetic services. In industrialized countries, however, prenatal diagnosis is an integral part of comprehensive genetic services, is covered by health insurance if medically indicated, is closely monitored in it’s quality by the state and is preceded by non directive genetic counseling. Furthermore, couples with abnormal results can opt voluntarily for legal, safe and insurance-covered termination of pregnancy. None of these features characterize prenatal diagnosis in Latin America. In the first place, and because of the ill-conceived notion that equates prenatal diagnosis with abortion, the public health sector has shunned funding for these services. The for-profit private sector, on the other hand, offers limited prenatal diagnosis services to the well-to-do, without medically defined indications, with only perfunctory genetic counseling and without any quality control. Thus, prenatal diagnosis is typically a fragmented service of unpredictable quality and only accessible to those who can pay out of pocket. Due to the illegality of abortion, geneticists and obstetricians who provide prenatal diagnosis will cease the relationship with the patient after informing an abnormal result. Couples who wish to terminate a pregnancy after an abormal result have to look for that service elsewhere (12, 14).

Genetic Services in Cuba

Cuba’s political organization as a socialist country has set it apart from the rest of Latin America in the development and implementatin of health care policies. Health promotion and care is a responsibility of the state and is centrally planned according to national goals. Health services are financed by the state and there are no fee for services to the patients. In the early 1980’s, a National Center of Medical Genetics was created and staffed with medical geneticists trained in Europe. The goals set then where: a) the prevention of sickle cell anemia via detection of carrier couples during pregnancy, genetic counseling, prenatal diagnosis and option for voluntary termination of affected fetuses; b) the prevention of chromosome anomalies by prenatal diagnosis in high risk pregnancies followed by the option of voluntary termination of affected fetuses; c) the prevention of congenital anomalies by the use of serum alphafetoprotein analysis and ultrasound in gestation; d) newborn screening for phenylketonuria and congenital hypothyroidism; e) development of clinical genetics services for the diagnosis and care of patients with genetic conditions and birth defects. In order to accomplish these goals, the following steps were undertaken: a) training of pediatricians and obstetricians to staff clinical and prenatal genetics services in the provincial capitals of the country; b) organization of regionalized laboratories for cytogenetics, detection of sickle cell anemia heterozygotes, serum alphafetoprotein analysis and the diagnosis of inborn errors of metabolism; c) development of regionalized prenatal diagnosis services by ultrasound, amniocentesis and chrorionic villi sampling; d) more recenttly, a DNA diagnostic laboratory was developed in Havana for sickle cell anemia, cystic fibrosis and fragile (15).

Over the past ten years the human resources policies in medical genetics shifted from the utilization of pediatricians and obstetricians trained in genetics, to the training of full-fledged medical geneticists at a single training site in Havana. Currently, all genetics units in the country are staffed with medical geneticists. Recently, nurses are being trained in genetic counseling to assist in the implementation of the programs (16).

The programs outlined above have been largely successful in spite of political and economic problems that have affected the island after the cessation of support from the former Soviet Union. There has been a significant reduction in the prevalence at birth of sickle cell anemia, neural tube defects, severe congenital heart defects and other serious malformations. (15) The program of prenatal diagnosis of chromosome analysis, on the other hand, has suffered because it requires imported reagents that are in short supply. All in all, the Cuban experience demostrates that a developing country of low income can accomplish public health goals, including the prevention and care of genetic diseases and birth defects, if there is political will and proper organization of existing resources.

What is needed for the expansion of genetic services in Latin America

The analysis of the current status of genetic services in Latin America suggests that to further the development of programs for the prevention and care of birth defects and genetic conditions in the Region, several steps must be undertaken (16).

In the first place, epidemiological research must be stimulated to provide better data on the prevalence and types of birht defects, genetic diseases and genetic predispositions to common diseases. Issues of population structure (consanguinity, founder effects, cultural and geographic isolation, etc) should be better studied to assess their influence on geographical clusters of genetic diseases.

Secondly, serious efforts should be undertaken in the field of genetic education. Undergraduate curricula for the health professions should be modernized and the practical aspects of medical genetics should form part of the clinical teachings. Genetics should be taught in all schools of public health of the Region. For the already trained health professionals, continuing education programs should be developed to make them familiar with the modern concepts of clinical genetics and their application to the prevention of genetic conditions and the care of individuals, families and populations affected with genetic disabilities. Officials in charge of public health programs should be targetted specifically for continuing education in genetics. In all these educational activities teaching must be directed by professionals with practical exprience in the clinical and public health aspects of genetics, as too often genetics is taught only as a basic science or a laboratory discipline. Finally, it is essential that the public at large be educated in the clinical and social aspects of medical genetics to fend off misconceptions and fears that fuel genetic discrimination and confusion regarding the real goals of genetic programs.

In the third place it is important that medical geneticists be educated in community health and recognize and aknowledge that genetic services must be developed beyond tertiary centers, into the primary care level, in order to answer the needs of the communities.

Fourthly, genetic services have to have defined and realistic goals and must be centered in the wellbeing and health of people and not in ill conceived eugenic or population goals. They must respect cultural diversity in handling reproduction options made possible by genetic technology. Discrimination for genetic characteristics must be avoided and fought against. Services must extend their coverage into primary care settings, should incorporate the community and encourage the development of petient-oriented lay organizations. Interactions between medical geneticists, primary health workers and community organizations is essential to make medical genetics useful in the prevention and care of genetic disabilities. In order avoid duplication of services to be as cost-efficient as possible, genetic services must be regionalized, with tertiary centers responsible for specific geographic and/or administrative areas. Programs at secondary and primary care levels should be supervised by a tertiary center.

Finally, it is evident that the current numbers of health professionals and laboratory personnel with the proper training to provide genetic services is utterly insufficient. Rather than advocate training of additional such personnel, efforts should be directed towards training in genetics for general physicians and allied health professionals such as nurses, psychologists, social workers, etc. Genetic counseling should become a tool that all clinical health professionals should be trained for and be able to apply in practice with the proper supervision.

The fate of genetic services in Latin America ultimately rests upon the wisdom and political will of statesmen, public health officials and medical educators. The right to health care must be enforced and it should include the prevention and care of genetically determined conditions. Medical geneticists must act in conjunction with patient-oriented organizations and other community organizations top lobby for equitable genetic services for all in need and to avoid distortions in priorities brought about by economic genetic discrimination.

References

1. Pan American Health Organization. Health Conditions in the Americas. Washington, DC; 1994.

2. Brunoni D. Estado atual do desenvolvimiento dos servicios de genetica medica no Brasil. Brazilian Journal of Genetics, vol 20, Suppl, 11-23, 1997.

3. World Bank. World Development Report, 1993. New York, Oxford University Press; 1993.

4. Population Crisis Committee. World Access to Birth Control. Washington, DC: 1992.

5. Sundstrom K, cited in: World Bank. Women’s Health and Nutrition: Best Practices. Washington, DC: World Bank; 1993.

6. Pan American Health Organization. Plan de accion para la reduccion de la mortalidad materna en las Americas. Washington, DC: PAHO; 1993:45-5.

7. Saborio M. Experience in providing genetic services in Costa Rica. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul, NW (Eds): Genetic Services Provision: An International Perspective. Birth Defects Orig Art Ser 28 (3) 96-102, 1992.

8. Heredero L. Comprehensive national genetic program in a developing country- Cuba. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW (Eds): Genetic Services Provision: An International Perspective. Birth Defects Orig Art Ser 28 (3) 52-57, 1992.

9. ICBDMS. Congenital Malformations Worldwide. A Report from the International Clearinghouse for Birth Defects Monitoring Systems, Elsevier, Amsterdam, 1991.

10. Castilla EE, Sod R. The surveillance of birth defects in South America: II. The search for geographic clusters: Endemics. Adv Mutag Res 2:211-230, 1990.

11. Penchaszadeh VB. Genetic services for the hemoglobinopathies in Latin America. Joint WHO/TIF Meeting on the Prevention and Control of the Hemoglobinopathies, Nicosia, Ciprus, April3-4, 1993. Internal publication, World Health Organization, Geneva, 19993.

12. Penchaszadeh VB. Implementing comprehensive genetic services in developing countries. The case of Latin America. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW (Eds). Genetic Services Provision: An International Perspective. Birth Defects Orig Art Ser 28 (3) 17-26, 1992; Penchaszadeh VB, Beiguelman B (Eds): Servicos de Genetica Medica na America Latina: Estado Atual e Perspectivas. Brazilian Journal of Genetics, 20 (1) Supplement, 1997.

13. Penchaszadeh VB. Bioetica y genetica medica en America Latina. Brazilian Journal of Genetics 20 (1) Supplement: 163-170, 1997.

14. Heredero L. Los servicios de genetica medica en Cuba. Brazilian Journal of Genetics 20 (1), Supplement: 47-54, 1997.

15. Penchaszadeh VB, Heredero L, Punales-Morejon D, Rojas I, Perez ET. Genetic counseling training in Cuba. Am J Hum Genet 61 (4) Supplement A1099, 1997.

16. Group of Experts in Genetic Services in Latin America. Conclusiones y Recomendaciones de la Reunion de Expertos en Servicios de Genetica Medica en America Latina. In: Penchaszadeh VB, Beiguelman B (Eds): Servicios de Genetica Medica na America Latina: Estado Atual e Perspectivas. Brazilian Journal of Genetics 20 (1), Supplement: 171-174, 1997.


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