Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation

The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.     

Clinical genetics in developing countries: the case of Brazil

There are many impediments to the progress of clinical and medical genetics in developing countries. Higher priorities concerning basic health care usually take precedence over genetic diseases and birth defects among medical professionals and public health officials. This is so in spite of the fact that the global prevalence of these conditions seems higher than in the developed world and that limited resources enhance the burden on individuals, families and populations. Furthermore, as a consequence of recent advances in medical genetics, demand for genetic services has increased, reinforcing the need for programs for the management and prevention of genetic diseases and birth defects, especially at primary health care level. An overview of these issues in Brazil is presented here, with information on the health system, the evolution of medical and clinical genetics in the country, and the situation of medical and clinical genetic services. We discuss proposals for implementing appropriate, ethically acceptable and equitable clinical genetic services for the Brazilian population.     

Genetic services in Latin America

This special issue of Community Genetics reviews some of the most important developments in medical genetics in key countries of Latin America. Contributions to this issue were prepared for a special consultation of the World Health Organization held in Porto Alegre, Brazil, on June 19, 2003. Latin America is a region of medium- to low-income countries characterized by socioeconomic problems, with large segments of the population living in poverty and extreme disparities in the distribution of wealth. A rise in chronic diseases typical of the processes of industrialization and urbanization coexists with the persistence of nutritional and infectious diseases characteristic of poverty and underdevelopment. Over the last 2 decades of the 20th century, birth defects and genetic disorders have increased their share of morbidity and mortality, and tertiary-care-based genetic services have developed in urban areas. Although privatization of health care is eroding the public sector, the public institutions continue to be the main providers of genetic services for the bulk of the population and the leaders in research. The development of clinical genetics in the region is concentrated in tertiary-care centers in large cities, although a recent trend began extending genetic services to the community.     

United Arab Emirates: communities and community genetics

The UAE society is cosmopolitan, but the indigenous inhabitants are traditional with puritanical values despite their exposure to other vastly different cultures and habits. Marriages between consanguineous couples are still the norm rather than the exception. As a result, there is a high frequency of genetic disorders, particularly autosomal recessive types. Despite the high frequency of genetic disorders like haemoglobinopathies and others characteristically found in this population, genetic services are inadequate. Screening for certain disorders like thalassaemia are not applied on a wide scale. Abortion is illegal, and therefore, prenatal diagnosis or preconception tests are not done. With the absence of a good national database, deficiency of genetic services and absence of preventative alternatives for carrier couples, genetic counsellors find it difficult to advice pragmatic solutions to issues relating to genetic diseases. This paper reviews common genetic problems in the UAE with special emphasis on available genetic services and support to families with children with inherited disorders. Existing barriers to the improvement of clinical services by prenatal counselling are also discussed.     

Preventing congenital anomalies in developing countries

The birth prevalence of congenital anomalies in developing countries is similar to that observed in developed countries. However, the health impact of birth defects is higher because of a lack of adequate services for the care of affected infants and a higher rate of exposures to infections and malnutrition. A number of successful measures for the prevention of congenital anomalies are being taken in a number of developing nations. Primary prevention programs are based on public education about preconceptional and prenatal risks. Prevention based on reproduction options includes teratogen information services and prenatal screening for fetal anomalies. In addition, programs for the detection of congenital malformations at birth, followed by early treatment, are contributing to secondary prevention. Prevention of congenital anomalies in the developing world requires: (a) good epidemiological data on the prevalence and types of birth defects and genetic disorders; (b) educating health professionals in the goals and methods of preventing birth defects at low cost but with high impact, and (c) expansion of family planning and improvement of antenatal care combined with educational campaigns to avoid the risks for birth defects. The basis for public health preventive measures should be the primary health care level. In a sizable proportion of developing countries, the stage is already set for these measures to be implemented. Required are education, political will, and proper organization and allocation of resources.     

Community-based program for the diagnosis and prevention of genetic disorders in Cuba. Twenty years of experience

The author's experience of 20 years as director of the medical genetic services program in Cuba is presented. The setting of the infrastructure for equipment and the training of personnel for the medical genetic program began in 1981 in the city of Havana, and was progressively extended to cover the whole country in 1988. Between 1982 and 2002, 2.8 million pregnant women were tested for sickle cell carrier status, 96,000 carriers and 4,786 couples at risk were detected and offered genetic counseling and prenatal diagnosis. In the same period, the combination of maternal serum alpha-fetoprotein screening and fetal ultrasound led to the prenatal diagnosis of anomalies in several thousand fetuses. The accessibility to legal abortion, and the autonomous decisions by the majority of couples to terminate abnormal pregnancies reduced the prevalence of neural tube defects and sickle cell disease at birth by 90 and 65%, respectively, by 2002. In the span of approximately 20 years, 22,690 pregnant women at risk received prenatal chromosomal diagnosis. Newborn screening for phenylketonuria and congenital hypothyroidism was established. Genetic counseling was offered to every detected person or family at risk for genetic conditions. The network of medical genetic services established in the country received a very positive acceptance by the population. A very successful connection with the primary health care level was established.     

Medical genetics in Peru

Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state's health policy does not contemplate any action on congenital or genetic conditions, and genetic services are considered a very low priority. In spite of this, some of the best medical schools have undergraduate and graduate programs in genetics, and there is a growing group of specialists that makes its best to impulse the practice of medical genetics in Peru. Many ethical and legal dilemmas, common to other countries in the region, and derived from social inequality, and political, cultural and religious factors, are also faced in everyday practice.     

Medical genetic services in the state of Rio de Janeiro, Brazil

Rio de Janeiro is a state with close to 15 million inhabitants and approximately 250,000 births per year. The state counts nine clinical genetic units in public institutions, providing for 9,400 outpatient consultations yearly, which is insufficient to cover the estimated needs. Laboratory tests such as cytogenetics, inborn errors of metabolism and molecular studies are available on a limited basis. Newborn screening in the public health system is being performed for phenylketonuria, congenital hypothyroidism and sickle cell disease. In the state there are also special treatment programs for osteogenesis imperfecta and Gaucher's disease, subsidized by the Brazilian Ministry of Health. Presently, efforts of medical geneticists are concentrated on highlighting the practical relevance of clinical genetics, and the need to integrate the specialty into the public health system in a functional network of genetic services.     

Age at postnatal diagnosis of down syndrome in the northern Netherlands for the period 1981-2000

BACKGROUND: In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should start early in life. We were interested in the age at the postnatal diagnosis of Down syndrome, and found no literature on the subject. METHODS: We studied the age at the diagnosis of Down syndrome for live-born babies born in the period of 1981-2000 and registered by the European Registration of Congenital Anomalies in the northern part of The Netherlands. RESULTS: For 289 children, data on the age at the postnatal diagnosis were available, in 70.8% of whom there was suspicion of DS on the day of birth. In 1.7% of the cases, the diagnosis was made after 1 year. Place of birth and the specialty of the health worker assisting at the delivery were associated with age at diagnosis. When the child was delivered at hospital, 96.4% of the Down syndrome cases had been diagnosed within 1 month compared to 81.3% following home delivery. CONCLUSION: In some cases of Down syndrome in live-born babies, the diagnosis is made only after months or a year. The diagnosis was made faster in babies born in hospital compared to those born at home.     

Common autosomal recessive diseases in Oman derived from a hospital-based registry

OBJECTIVES: The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services. METHODS: Analysis of the years 1993-2002 using a hospital-based registry of genetic diseases was attempted. More than 3,000 records were reviewed. Only patients with definite diagnosis were included in the analysis. Genetically determined diseases occurring less frequently than 1 in 50,000 births are not included. RESULTS: A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths. CONCLUSIONS: The data suggest that genetic diseases are important as major contributors to perinatal and childhood mortality and morbidity. The need for preventive genetic service is essential for the health of the community in Oman. Autosomal recessive diseases were frequently concentrated in specific geographical areas, which can be explained by founder effect and genetic drift. However, the hospital-based registry may present incomplete information. Further prospective studies are needed to provide more detailed data.     

Parents' satisfaction with medical and social assistance provided to children with Down syndrome: experience in Estonia

OBJECTIVE: Parents of children with mental or physical disabilities have been assumed to live more stressful lives than other parents, and people with Down syndrome (DS) may get second-rate care because of their diagnosis. The aim of this work is to investigate the extent of parents' satisfaction with medical and social services in Estonia provided for the DS individuals and their families. METHODS: From 1999 to 2001, fifty-nine DS families answered questionnaires in which we inquired about their satisfaction with medical and social assistance. RESULTS: We found that satisfaction with the quality of the information about DS is low, and most of the parents are not satisfied with the social benefits and rehabilitation options. CONCLUSIONS: The DS families need more medical information about this syndrome.The medical staff has to learn more about how to deliver bad news and how to support parents. More work needs to be done in the area of rehabilitation options and social assistance.     

What role for public health in genetics and vice versa?

Some epidemiologists and geneticists claim that integrating genetics into public health policies and programs is necessary and unavoidable. OBJECTIVE: To examine the extent to which further integration of public health and genetics is warranted. METHODS: Synthesis of the literature in four areas: research, genetic services, regulation, and education. The analysis is limited to human genetics. RESULTS: Public support for basic genetic research has and will continue to lead to new applications and to further understanding of human origins and dispersions. Some applied research, particularly for genetic risk factors for common complex diseases, has low yield and is better supported by private funds. The only genetic service for which a public health role is paramount is newborn screening. With the patenting of genes, and the proliferation of commercial interests in genetic tests and directly advertising them to the public, regulation by public health agencies is increasingly important. As most genetic testing and other services will be provided in the personal health care system, education about genetics is best left to the educational and medical systems. Public health practitioners should be aware of the limitations of genetic tests. CONCLUSIONS: There is little need for further integration of genetic services and education into public health especially in countries in which public and private health services are dichotomized. Newborn screening and follow-up, however, are most safely and effectively provided under public health auspices. The most important area for strengthening the public health role is in the regulation of genetic tests and other genetic services provided primarily by the private sector. Continued support for basic genetic research is needed.     

Medical genetics in Zulia, a State of Venezuela

Zulia is a state located in the northwest of Venezuela. Congenital malformations, deformities and chromosomal anomalies are the second cause of infant and neonatal mortality. There are seven public and private groups providing genetic services, the most important of which, the Medical Genetic Unit at the Zulia University was created in 1973. So far, this unit has provided genetic services to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason being advanced maternal age. The most frequent genetic diseases in the state are Huntington's disease, sickle cell anemia, neural tube defects and Down's syndrome. Research in genetics includes the clinical, epidemiological and molecular characterization of hereditary diseases, cancer, reproductive problems and genetic diversity. Other public groups are conducting research on dementias, including Alzheimer's disease, and on the genotoxic effects of environmental pollutants.     

Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services

In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located in tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure and characteristics of three cancer genetic services in Brazilian public health care hospitals and discuss alternatives for the identification and prevention of hereditary cancer syndromes in developing countries. The three services presented here are similar in their structure, routine procedures for cancer risk estimation and criteria for the indication of genetic testing. They all demand that genetic counseling be an essential part of the cancer risk evaluation process, before and after cancer predisposition testing. However, when high-risk patients are identified, all services describe difficulties in the access and continuity of genetic and medical services to the patient and his/her at-risk relatives. The services differ in the type of population served, reflecting distinct referral guidelines. This study emphasizes the importance of the creation of new cancer genetic services in other Brazilian regions and the necessity for establishing a collaborative network to facilitate the diagnosis and research of cancer genetic syndromes.     

The Human Genome Project,genetics and health

Three main reasons why a genetic approach is unlikely to be a solution to common diseases in the foreseeable future are discussed. The first is the great importance of environmental circumstances in determining health, the second reason is the great complexity of gene/gene, gene/environment interactions, and the third reason is human behavior with regard to compliance with medical recommendations. Since particular interests are likely to push for a genetic approach to disease, there will be a need to protect the public interest so that premature and inappropriate use of genetics is not made, and so that a balanced opportunity to better the health of all is not missed.     

Consumer perspectives on genetic testing, research and services for ethnoculturally diverse populations

A panel of individuals from diverse ethnocultural backgrounds and representing a variety of genetic disorders presented their consumer perspectives on genetic programs, testing and services. Their remarks emphasized how misunderstanding and miscommunication between health care professionals and many of the populations for whom they provide services can lead to unfilled genetic service needs. Panelists recommended that health care professionals become more aware and knowledgeable about the diversity of customs, beliefs and cultures of those receiving their services. Only by building a foundation of trust and mutual respect will genetic testing, research and services become more accessible to individuals from diverse populations, their families and their communities.     

Medical genetics services in the city of Sao Paulo, Brazil

The city of Sao Paulo is located in the center of a metropolitan area with nearly 18 million inhabitants and 300,000 births/year. The currently existing medical genetics services are unable to meet the demand, due to their insufficient physical and personnel infrastructure. Institutions and experts in medical genetics could give short training and refresher courses to health professionals to enable them to work in the public health network. The city has a reasonably well developed health care network, represented by the Single Health System (Sistema Unico de Saude - SUS) and by the Family Health Program (Programa de Saude da Familia - PSF). The financial resources for such actions originate in the budget of the managing agencies of such systems. The limitations of genetic services provided to the population of the city could be overcome in a short period of time by developing programs within the public health care network. The city has institutions, professionals and financial resources to make this project feasible. To that end, the competent authorities of the Sao Paulo State and City Secretariats of Health should take managerial responsibility for the genetic services in the city.     

Medical genetics in Paraguay

Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.