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 Ecuador

Ecuador has a population of 12 million inhabitants, composed of a variety of ethnic groups. The majority of the population lives in rural areas. There is a severe deficiency in health services, and most diseases are associated with poor life conditions: malnutrition, parasitic diseases and infections. At the same time, however, chronic diseases, e.g. cancer, have increased in prevalence. Most genetic services are provided by the private sector, which offers clinical genetic consultations and counseling, cytogenetic analyses, a limited number of molecular and biomedical tests, and prenatal diagnosis. Genetic research is centered in the universities of important cities (Quito, Guayaquil and Cuenca). The government sponsors some university research projects but does not conduct health actions in genetics in the community. There is an incipient interest in ethic and legal issues in genetics, such as how to provide modern genomic medicine in a resource-poor country.     

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.     

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.     

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.     

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.     

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.     

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.     

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.     

The burden of genetic disorders in India and a framework for community control

With a very large population and high birth rate, and consanguineous marriage favoured in many communities, there is a high prevalence of genetic disorders in India. An estimated 495,000 infants with congenital malformations, 390,000 with G6PD deficiency, 21,400 with Down syndrome, 9,000 with beta-thalassaemia, 5,200 with sickle cell disease, and 9,760 with amino acid disorders are born each year. The prevalence of late-onset multi-factorial disorders (including coronary artery disease, hypertension and psychiatric disorders) is also large. Due to inadequate diagnostic, management and rehabilitation facilities, the burden of these disorders is greater than in Western countries. Although genetic diseases receive little attention from the health services, research funding by the government has been liberal. Community control of common disorders like thalassaemia, Down syndrome, neural tube defects, and muscular dystrophies deserves high priority, and genetic services should be integrated into the existing primary health care and medical services. Most genetic counselling would have to be provided through training physicians who staff the district and medical school hospitals. To ensure future progress, there is a need to establish additional departments of medical genetics in medical schools.     

Genetic counseling for the public?

The widespread availability of diagnostic tools for numerous inherited diseases requires diligent decision-making regarding the risks and benefits, not only for the individual but also at the population level. Should therefore genetic counseling be offered to the entire population at risk for genetic diseases? In our opinion, the goals of public health may only be reached by serving primarily the individual at risk and his/her family. Efforts in public health genetics should be focused on appropriate genetic counseling, especially regarding common diseases with complex genetic components in the near future.     

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.     

Public experiences, knowledge and expectations about medical genetics and the use of genetic information

OBJECTIVE: The objectives of this study were (1) to explore public experiences, genetic knowledge, expectations of future medical genetic developments, and the attitudes towards the use of genetic information, and (2) to determine whether there are subject characteristics associated with these variables. METHODS: Participants (n = 1,308, age > or = 25 years) of a Dutch consumer panel were sent a questionnaire, specifically designed for this study. RESULTS: Response was 63% (817/1,308). A minority of respondents reported to know someone with a hereditary disease (34%) or to have used a genetic test (8%). Overall, 57% perceived a lack of genetic knowledge. In multivariate analyses, high self-rated knowledge, younger age, having heard of genetic testing, high educational level, female gender, having children living at home, being a health professional, and familiarity with genetic testing were positively associated with genetic knowledge. Future expectations of the consequences of developments in medical genetics varied between the subjects. The great majority expected great benefits for medical practice such as an increasing use of genetic aspects of disease for diagnosis or prevention. One fifth, mainly older people, anticipated a negative impact of genetic developments on society. The results also show that most people are reserved to share their genetic information with others, especially with regard to the wider public domain (e.g. industry and insurers) and employers. Remarkably, respondents were more willing to share their genetic information with scientific researchers (68%) than with their relatives (54%). CONCLUSION: This study suggests that although one fifth anticipates negative consequences of genetic developments, the great majority has high expectations about the increasing use of genetics in prevention, diagnosis and treatment of diseases. In developing educational programmes about genetic innovations in medicine, policymakers will have to take into account pre-existing lay knowledge, views and expectations of different groups of citizens towards these developments.     

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.     

International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna region, Italy

The aims of this report are to describe the genetic plan for Emilia-Romagna, a region in Italy, and to contribute to the international exchange of information on developing and applying policy frameworks to provide high-quality and comprehensive genetic health care in the publicly funded health systems. At the present time there is no national policy for genetic medicine in Italy, and only two regions, Emilia-Romagna and Liguria, have formally agreed to a strategic plan for health care in genetics. The current provision of genetic services in Emilia-Romagna is described focusing on the intra- and inter-organizational linkages to ensure a comprehensive system of coordinated activities. Strengths and implementation areas are highlighted. Points that must be solved within the regional or national context are the definition of the level of assistance required in genetic medicine, the formal professional recognition of the genetic counselor and the adjustment of the billing mechanisms to the complexities of clinical genetic services. Issues that need to be addressed at a wider level include full assessment of genetic tests before their introduction into clinical practice, networking to provide tests for the rarest genetic diseases, consensus on fundamental terminology and clinical and administrative data sets to promote a cohesive framework for the flow of information throughout the health care systems with respect to genetics.     

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.     

Current Challenges to Appropriate Clinical Use of New Genetic Knowledge in Different Countries

Objective: To describe the challenges facing countries all over the world regarding the appropriate clinical use of genetics in their health care systems. Methods and Results: Aspects of the economic and social contexts in different countries which are of particular relevance to shaping the existing challenges are outlined. Issues which are relevant (but of different prominence) in all countries in providing genetic services are discussed. Conclusions: The challenges facing the provision of appropriate genetic services differ markedly in four major groups of countries. These challenges range from controlling inappropriate commercialization and the overuse of genetic approaches to putting in place even minimal basic community genetics services in countries where the infant mortality rate has fallen to a range where genetic and congenital disorders contribute substantially to ongoing handicap and early mortality. Copyright 2001 S. Karger AG, Basel     

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.     

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.