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.     

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.     

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 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.     

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.     

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.     

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.     

Genetics and global health care

OBJECTIVES: To examine an alternative model for funding genetic health care, on a global basis. METHODS: Internet-based national data on gross domestic product (GDP) per capita, health care funding, and public and private elements of health care costs. RESULTS: Wide variation in GDP per capita and in the proportion available for health care funding. Insufficient funds are available in developing countries. CONCLUSIONS: Health care provision for people with genetic disorders is unlikely to be fully funded unless a different approach to management costs is undertaken. Rare genetic disorders could be funded by an insurance model which may be more equitable and which could be developed to cover the total global health care costs of the genetic disorder.     

The Integration of Genomics into Public Health Research, Policy and Practice in the United States

Objectives: To examine the opportunities for and responsibilities of the public health community in bridging the gap between gene discovery and the application of genetic information to improve health and prevent disease. Methods: We developed genetics-related definitions for the core functions and essential services of public health. We combined these definitions with a visual model to create one possible 'blueprint' for integrating genomics into public health activities. Results: The proposed blueprint and accompanying examples illustrate the important role for genomics throughout public health research, policy and practice. Further refinement and implementation of this blueprint represents an ambitious public health leadership agenda. Conclusions: Opportunities for immediate action include strategic planning for the integration of genomics across programs, developing genomics competencies among health professionals, enhancing surveillance and epidemiologic capacity to aid evidence-based policy making, building partnerships and seeking input from stakeholders and incorporating information about genomics into health communications. Copyright 2001 S. Karger AG, Basel     

'Genetics home reference': helping patients understand the role of genetics in health and disease

The surge of information generated by the Human Genome Project has left many health professionals and their patients struggling to understand the role of genetics in health and disease. To aid the lay public and health professionals, the US National Library of Medicine developed an online resource called 'Genetics Home Reference' (GHR), located at http://ghr.nlm.nih.gov/. Launched in April 2003, GHR's goal is to help the public interpret the health implications of the Human Genome Project. It bridges the clinical questions of consumers and the rich technical data emerging from the sequenced human genome. The GHR web site is designed for easy navigation among summaries for genetic conditions and the related gene(s) and chromosome(s). This design strategy enhances the user's appreciation of how genes, chromosomes, and conditions are interrelated.     

The history of community genetics: the contribution of the haemoglobin disorders

The emerging possibilities of applying new diagnostic technologies for genetic diagnosis and screening point to the need for a discipline of community genetics. Genetic population screening for haemoglobin disorders (thalassaemias and sickle cell disorders) has been practised on a large scale for over 20 years, and basic concepts and methods of community genetics have been developed within this framework, under the auspices of the WHO. Genetic population screening is a public health activity. It involves many disciplines, and planning depends on reliable and regularly updated information. Basic methods for describing genetic epidemiology in terms of service needs, and for regular service audit have been developed, and IT-based approaches for making simple, accurate and diagnosis-specific information accessible to the public and health professionals are being explored.     

The challenge of validating genetic testing

Validation of genetic testing is a multidisciplinary task that involves medical/clinical geneticists, other medical specialists, legislative authorities and the public. It is an area in which many issues are unresolved. Validation should not focus on the laboratory process alone, but should also include the prerequisites for service delivery, such as education and staffing, data collection and banking and information transfer, as well as pre- and post-test genetic counselling in a cost-effective perspective. It must thus be seen as an ongoing process at laboratory, familial and societal levels which involves many different actors. The challenges for the near future are to continue to develop technical standards for the laboratory and counselling procedures, and, in collaboration among professionals, lay persons and state authorities, to define a legal framework for the actions of the various players. This chapter discusses some problems related to the validation process for genetic testing, broadly defined.     

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.     

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.     

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.     

Family communication about genetic risk: the little that is known

Although family communication is important in clinical genetics only a small number of studies have specifically explored the passing on of genetic knowledge to family members. In addition, many of these present exploratory or tentative findings based upon small sample sizes, or data collected only a short time after testing. Nevertheless, if health professionals are to develop effective strategies to help patients' deal with communication issues, we need to know more about what actually happens in families. The aim of this commentary is to identify factors which appear to influence whether patients share information about genetic risk with relatives who are unaware of that risk, with whom they share it and how they go about it. The paper draws upon evidence and thinking from the disciplines of psychology (including family therapy), sociology, medicine and genetic counselling. It is presented under the following headings: disease factors, individual factors, family factors and sociocultural factors. It concludes by highlighting a number of key issues which are relevant for health professionals.     

Genetics in primary care: a USA faculty development initiative

The Genetics in Primary Care (GPC) project is a USA national faculty development initiative with the goal of enhancing the training of medical students and primary care residents by developing primary care faculty expertise in genetics. Educational strategies were developed for the project by an executive committee with input from an advisory committee, comprising individuals with primary care, medical education and genetics expertise. These committees identified the key issues in genetics education for primary care as (1) considering inherited disease in the differential diagnosis of common disorders; (2) using appropriate counseling strategies for genetic testing and diagnosis, and (3) understanding the implications of a genetic diagnosis for family members. The group emphasized the importance of a primary care perspective, which suggests that the clinical utility of genetic information is greatest when it has the potential to improve health outcomes. The group also noted that clinical practice already incorporates the use of family history information, providing a basis for discussing the application of genetic concepts in primary care. Genetics and primary care experts agreed that educational efforts will be most successful if they are integrated into existing primary care teaching programs, and use a case-based teaching format that incorporates both clinical and social dimensions of genetic disorders. Three core clinical skills were identified: (1) interpreting family history; (2) recognizing the variable clinical utility of genetic information, and (3) acquiring cultural competency. Three areas of potential controversy were identified as well: (1) the role of nondirective counseling versus shared decision-making in discussions of genetic testing; (2) the intrinsic value of genetic information when it does not influence health outcomes, and (3) indications for a genetics referral. The project provides an opportunity for ongoing discussion about these important issues.     

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.     

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.