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.     

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.     

Improving access to and utilization of genetic services in Arizona's Hispanic population

This abstract presents a model project aimed to train community lay health workers about genetics, increase cultural competency of genetic services providers, and provide local access to genetic services in primarily Hispanic communities in the state of Arizona. Health Start, a community-based prenatal outreach program, served as the basis for providing genetic education and services. A genetics training curriculum was developed and training of community lay health workers was provided. Cultural and Spanish language training was provided for all genetic services providers. Pediatric genetics outreach clinics were established in eight communities. Community-based lay health workers eagerly incorporate genetic information into their public health knowledge base, but this may not lead to acceptance of these personnel by local health care providers as sources of referrals for specialized health services such as genetics. Cultural competence training of genetic service providers is enthusiastically accepted and utilized in the provision of locally accessible genetics clinics.     

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.     

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.     

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.     

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.     

Knowledge about medical genetics in health care

Effective genetic services depend upon co-operation between medical geneticists and many different non-geneticist professionals to ensure that the most appropriate patients are referred to geneticists and that those that require long-term care receive it. Important determinants of the quality of genetic services are the knowledge that professionals have about clinical genetics and the equitable distribution of adequately resourced genetic centres. Consequently, we have investigated in a European context how much clinically relevant genetics non-geneticists know, how competent non-geneticists are in counselling their own patients, how well equipped specialist genetic centres are, who refers to genetic centres and what they refer and who offers continuing care to patients and families whose problems are not resolvable at a limited genetic clinic visit.     

Attitudes about genetics in underserved, culturally diverse populations

OBJECTIVE: New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally diverse communities. METHODS: To better understand attitudes and beliefs towards genetics and genetic testing in these groups, we conducted eight focus groups with 55 patients and health care workers in New York City and Westchester, N.Y., in English, Spanish, and Chinese. RESULTS: Focus group participants had limited understanding about genetics or genetic testing. Newborn screening was the least-known genetic issue, even among health care workers. Regardless of their cultural group, most participants expressed a desire for more information about genetics and genetic tests. Latinos and Chinese participants generally expressed positive attitudes towards genetic studies and genetic testing, with the possibility of preventing diseases cited as the main advantage. Black Americans and Non-Hispanic Whites reported mixed feelings about genetic research and genetic testing. Concerns expressed included: anxiety before receiving test results or waiting for a disease to develop, fear of genetic discrimination by health and life insurance companies and employers, not having the financial means to deal with genetic diseases in themselves or a sick child, concern that children and adults are having too many tests. Black Americans expressed the most concern for possibly harmful use of genetic information. CONCLUSIONS: Minority populations of diverse cultures have limited knowledge about genetics and genetic testing, would like to have more information, and are not well reached by the current educational approaches. Participants knew the least about newborn screening, a test that is mandatory in the New York State. While genetic knowledge by minority populations was perhaps not different from the level of knowledge of consumers in general, minority populations are at particular risk of being left behind because of historically poor access to information and services.     

Genetic services and research in the state of Minas Gerais, Brazil

The state of Minas Gerais in Brazil has a surface of 586,528 km(2), and 18 million inhabitants. Infant mortality rate is 20/1,000, and congenital anomalies are its second cause. There are 11 medical schools where basic genetics, but not clinical genetics, is taught. Genetic services in the state include: newborn screening for hypothyroidism, phenylketonuria, sickle cell disease and cystic fibrosis; clinical-genetic diagnostic evaluation and counseling; prenatal diagnosis, fetal medicine and paternity testing. Medical genetic services and research are underdeveloped because of limitations such as lack of health policies in genetics, small number of trained specialists, little knowledge about genetics among health professionals and low reimbursement rates.     

Education in medical genetics for non-genetic health care providers in Sweden

We investigated the content and extent of education in medical/clinical genetics among Swedish universities, university colleges and colleges of health providing undergraduate education for medical doctors and nurses. In addition, selected medical specialist training programmes and programmes for midwives and district nurses were analysed to detect elements of education or training in medical/clinical genetics. The main results are that, although basic cell biology is taught during the first semesters in all education, there is little or no genetics taught during the clinical parts of the educational programmes. Moreover, with regard to post-graduate education, it is almost absent. There is a need to improve education and training in genetics for all health care professionals to meet the expected increase in genetic issues in clinical medicine.     

Strengthening genetic services in primary care for Asian Americans and Pacific Islanders

The Association of Asian Pacific Community Health Organizations (AAPCHO) is a national membership organization of community health centers (CHCs) that serve medically underserved Asian Americans and Pacific Islanders (AAPIs) with limited English-speaking proficiency and low income. OBJECTIVES: In 1995, AAPCHO was funded for a 3-year national genetics training project to improve genetics training among primary care providers at CHCs and strengthen linkages with tertiary genetic centers (TGCs). Three model linkages between CHCs and TGCs were documented on the coordination of genetic services for medically underserved AAPIs. METHODS: Guidelines were developed for three CHCs to document their genetic programs and linkages with TGCs. In addition, one clinic conducted a mail survey to assess understanding of prenatal genetic counseling sessions by patients that visited the clinic during the past 2 years. RESULTS: Model linkages between CHCs and TGCs to improve cultural and linguistic accessibility for patients include formal coordination between the CHCs and TGCs for the delivery of genetic services and the provision of varying levels of genetic services at the CHC. From the patient survey, there was a 59% response rate among 70 surveys mailed to former patients. The survey results showed that while a majority of patients understood and recalled key genetic concepts, one-fifth of patients experienced difficulty understanding their genetic counseling sessions. CONCLUSION: Based on model linkages between CHCs and TGCs and the patient satisfaction survey results, the following strategies are recommended to improve accessibility of genetic services for medically underserved AAPIs: (1) genetics education should be developed for all levels of health center staff; (2) counseling should be culturally sensitive and focus on key issues that must be conveyed for appropriate informed consent; (3) genetics education should employ the use of translated audiovisual aids and brochures to improve understanding; (4) genetic services should be coordinated between CHCs and TGCs to provide culturally and linguistically competent care for medically underserved AAPIs, and (5) financial mechanisms should be available to support genetic testing of patients and their families with little or no coverage for genetic services.     

Genetics education for non-genetic health care professionals in the Netherlands (2002)

OBJECTIVE: The aim of the present study was to investigate whether medical care providers in the Netherlands are adequately educated in genetics by collecting information about the current state of genetics education of non-genetics health care professionals. METHOD: The curricula of the 8 universities providing medical education and of all varieties of specialised medical training were examined for the year 2002. RESULTS: In most universities, the number of hours spent on genetics education is small, and genetics is relatively invisible, being integrated within several courses, comprising only a small proportion of the total course (a mean of 8%). Only 3 of the programmes for medical specialist training and the training of medical doctors for mentally handicapped people indicated a formal genetics education programme. Continued education courses on genetics are offered irregularly. Training in midwifery involves at least 3 weeks of genetics education. Courses on genetics are offered frequently to practicing midwives. CONCLUSION: There appear to be no general, nationally defined final goals for education in genetics for non-genetics health care professionals in the Netherlands. Furthermore, the lack of visibility of genetics in medical education in the Netherlands was striking.     

Genetic education for non-geneticist health professionals

OBJECTIVES: It was the aim of this study to assess educational needs and priorities in genetics amongst non-genetic health professionals. METHODS: The methods used included website reviews and direct contact with individuals and organisations involved in health professional education. RESULTS AND CONCLUSIONS: Health professional education and training differed in structure with wide variation in the content and duration of genetics education provided. Evidence from the UK, France and Germany indicates that genetics professionals are influencing the genetics content of medical curricula. In post-graduate training, some specialist regulators have adopted specific genetics education requirements, but many programmes lack any explicit genetics. We show that within each country, a sometimes confusing plethora of organisations has responsibility for setting, assessing and delivering medical and midwifery education.     

Genetic services in Colombia

Medical genetic services, including clinical genetics, cytogenetics, biochemical and molecular genetics and paternity testing, are performed in Colombia in the more developed medical schools or university institutions, in nine major cities of the country. Accessibility to genetic services is limited by medical care reimbursement laws which do not cover clinical genetic services nor genetic tests. Paternity testing is performed free of charge by a governmental welfare institution, if a legal claim is made against an alleged father. Basic teaching of genetics in medical schools is mandatory, but is very uneven and limited to the better schools. Postgraduate medical genetic training is offered by four different programs of similar quality. Research is performed on some of the most prevalent genetic conditions and on population genetic issues.     

Genetic services in the new era: Native American perspectives

American Indians have arrived at a critical point in their more than 500-year history with the United States Government. With the advent of the new bio-revolution, a number of tribes have voiced vehement opposition to genetic patenting, creation of cell lines, transgenic experimentation and cloning. While many are opposed to the Human Genome Diversity Project, Human Genome Project and diversity research currently being conducted by the Indian Health Service, a few embrace the beneficial aspects of biomedical/biogenetic research. Moreover, an increasing number of Indians see the need for and are seeking genetic counseling and other services. This paper briefly describes some of the issues associated with developing and implementing effective genetic services within Native American communities. Problems of access, perception of services, previous experience with genetics and cultural and other barriers are discussed. Recommendations also are rendered to assist health professionals in the development of services.     

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.     

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.