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.     

Where there's a web,there's a way: commercial genetic testing and the Internet

The Internet has become a "global marketplace", enabling consumers to purchase health care products and services, including genetic testing, through a variety of national and international sources. A web search for commercial (for-profit) genetic testing companies found 12 with a web presence that were offering adult genetic susceptibility testing, of which 3 offered direct-to-consumer access. In this paper, Canada--with its educated population and universal health care system--will serve as a case study for illustrating the social, ethical and policy issues (e.g., information privacy, just access to health care, product safety, and access to unbiased health information) arising with Internet-based access to commercial genetic testing. Health professionals, policy makers and consumers in all developed nations will be faced with complex technical, social and ethical issues, but without further discussion it will not be possible to determine how best to manage and maximise the benefits of this increased accessibility and choice, while minimising the associated personal and social costs.     

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.     

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.     

Assessment of two 'low-tech' genetic health care procedures performed by prenatal care providers in Washington state: implications for future policy development activities

Equity in health care demands that patients be treated fairly, impartially and with justice. Health care professionals and others have long been aware of the concept of equity, and the many inequities that exist in our health care system. As part of our analysis of postpartum data collected between 1993 and 1996 by the Washington Pregnancy Risk Assessment Monitoring System (PRAMS) from self-administered patient surveys, we explored equity as it pertains to two 'low-tech' prenatal genetic health care procedures: (1) whether or not prenatal care providers asked their patients about a family history of birth defects/genetic disorders, and (2) whether or not prenatal care providers talked to their patients about prenatal testing for birth defects/genetic disorders. Overall, about 80% of pregnant women reported that they had been asked about their family history of birth defects/genetic disorders, and about 85% said that their prenatal care provider(s) had talked to them about prenatal testing. Maternal characteristics associated with a lower likelihood of receiving these two low-tech genetic health care procedures appeared to be young maternal age, and low education and income levels, regardless of where women with these attributes received their prenatal care (e.g. community, migrant, health department or military health care clinics, private physicians, or health maintenance organizations).     

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.     

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.     

Economic considerations for health insurance coverage of emerging genetic tests

Public and private health insurance plans face the question of whether to cover emerging genetic tests for cancer and other diseases. This paper outlines issues in the economic evaluation of new genetic tests, illustrating key methodological issues and policy implications with findings from a comprehensive and systematic review of the 14 full economic evaluations published over the past 5 years that have addressed both the costs and consequences of molecular genetic tests. Key questions for framing an evaluation include: whose viewpoint matters, which costs and consequences are relevant, and to which clinical alternatives should new genetic tests be compared? While economic evaluation research can inform coverage decisions about genetic tests, the coverage decision-making process must also inform economic researchers about the aims, context, and value systems within which genetic tests will be covered and practised.     

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.     

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     

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.     

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.     

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.     

Economic evaluation of the familial cancer programme in Western Australia: predictive genetic testing for familial adenomatous polyposis and hereditary non-polyposis colorectal carcinoma

AIM: To evaluate costs and outcomes of genetic testing for familial colorectal cancer through services provided by Genetic Services of Western Australia (GSWA). METHODS: Costs and outcomes of predictive DNA-based testing for inherited colorectal cancers (CRC) were assessed, specifically for familial adenomatous polyposis (FAP) and hereditary non-polyposis CRC (HNPCC) using a decision-analysis model. Costs were assigned according to standards of care in Western Australia (WA). Cancer risks and the efficacy of surveillance on long-term outcomes were derived from the published literature. RESULTS: The cost-effectiveness of genetic testing was compared in first-degree relatives of known mutation carriers who have a 50% risk of carrying the mutated gene (intervention group) to individuals with the same risk but who do not undergo a genetic test (control subjects). Compared with control subjects undergoing the same high-level surveillance and surgery, the FAP and HNPCC intervention groups provided total savings of 13,390 US dollars and 14,783-15,460 per person (males-females), respectively. HPNCC mutation carriers also gained 1 CRC-free year. Compared to control subjects having only population surveillance, individuals in the FAP intervention group delayed the onset of CRC by 40 years for a net cost of 9,042 US dollars. Individuals in the HNPCC intervention group delayed the onset of CRC by 8 years at a net cost of 12,141 US dollars for males and 12,596 US dollars for females. CONCLUSIONS: Genetic testing for familial CRC in WA allows targeted surveillance for mutation carriers, which ensures the efficient use of resources and reduces cancer-related morbidity, if clinical recommendations for intervention are adopted.     

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.     

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.     

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.     

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.     

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.