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.     

Integrating genetics into advanced practice nursing curriculum: strategies for success

Keeping up with the volume of new genetic information emerging from the human genome project is a challenge for almost all healthcare providers, but nurses who received little or no formal genetic training often find it particularly intimidating. Nursing faculty may be reluctant to add genetic content to existing courses, much less tackle the work of teaching an entire course in genetics. This article provides nursing faculty with some strategies and straightforward curriculum modifications to assist them in integrating genetic content into graduate-level nursing curriculum. Advanced Practice Nurses in particular should understand genetics well enough to be aware of and appreciate the wide variety of genetic conditions that might be encountered in a clinical setting. The authors offer practical suggestions for incorporating genetics into Advanced Practice Nursing curricula.     

The Latin-American network of human genetics

The Latin-American Network of Human Genetics (RELAGH) is an internet-based federation of human and medical genetic societies of Latin America constituted in 2001. Member societies include the Mexican Association of Human Genetics, the Brazilian Society of Clinical Genetics, the Human Genetics Section of the Argentinean Society of Genetics, the Colombian Society of Human Genetics and the Panamanian Human Genetics Society. RELAGH is a full member of the steering committee of the International Federation of Human Genetics Societies. A core activity of RELAGH is to become a platform for the integration and collaboration of human geneticists across Latin America regarding training, services and research in medical genetics in the region.     

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.     

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.     

Clinical genetics in developing countries: the case of Brazil

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

Genetic services 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.     

Genetics teaching for non-geneticist health care professionals in the UK

OBJECTIVES: It was the aim of this study to describe the structure and content of training in genetics for non-genetics specialist health care professionals in the UK. METHODS: Data were collected by assessment of published syllabi and curricula and through contact with educational leads at responsible organisations. RESULTS: Twenty-six universities, 7 Royal Colleges and various intercollegiate boards and committees are involved in the provision of medical education at various levels, in addition to institutions offering nursing and/or midwifery training. Genetics is taught in variable formats, quantities and contents, and although some institutions are moving to adopt minimum competencies in genetics, this is by no means widespread. CONCLUSIONS: Given the wide number of stakeholders in the field, consensus competencies seem most likely to advance practice, and thus, phase II of the GenEd project will survey professionals to ascertain their priorities for genetic education.     

The role of the World Health Organization in promoting medical genetics in Latin America

The Human Genetics Program of the World Health Organization (WHO) has analyzed the needs for genetic services worldwide and the promotion of genetic approaches for the prevention of diseases linked to primary health care. This article presents a summary of the most important initiatives of the WHO in this field, which have served as a background for the Consultation in Medical Genetics in Latin America, which took place in Porto Alegre, Brazil, in June 19, 2003, and whose working reports are published in this special issue of Community Genetics.     

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.     

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

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

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.     

France: genetics education for non-genetics health care providers

OBJECTIVE: This paper explores the treatment of medical genetics in undergraduate medical education, specialists' training and continuing medical education (CME) for general practitioners, specialists, nurses and midwives. METHODS: We conducted a qualitative survey of websites, published or unpublished documents, telephone interviews and mailed questionnaires. RESULTS: Genetics is a medical specialty in France, and the small number of university professors in genetics are in charge of the genetic component of medical training of all future practitioners. The study was complicated by the ongoing waves of reforms in the French health and educational systems and by the autonomy of the faculties. Specialist training and CME in genetics is heterogeneous and not organised as a priority. CONCLUSIONS: Specialist education and CME in genetics of non-geneticist health care providers needs to be adapted to the fast ongoing developments of this field of knowledge.     

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.     

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.     

Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta)

BACKGROUND: Lack of adequate knowledge is a common problem in medicine, but is a particular problem in a rapidly advancing field like genetics. This study uses the example of a rare genetic disorder (osteogenesis imperfecta) to understand the information needs of primary care physicians (GPs). OBJECTIVES: To determine whether a knowledge gap is recognised, how GPs currently attempt to overcome it, and what features of an information resource are preferred by GPs. METHODS: GPs of children affected by osteogenesis imperfecta in and around Greater London were interviewed, using both questionnaire-based semi-structured interview and a qualitatively analysed open-ended discussion. Consultations in both primary and tertiary care settings over a 5-year period were compared. RESULTS: Problems due to osteogenesis imperfecta were presented to GPs in about one third of consultations with these patients. GPs reported finding such patients difficult to manage due to lack of knowledge. Knowledge from tertiary sources, which was authoritative, accessible and relevant, was preferred, particularly when reasoning was explained. Primary literature and clinical guidelines were not favoured. CONCLUSIONS: Empirical evidence supports and elaborates theoretical models for provision of clinically useful information. A model for improved information services using authoritative web-based information linked to electronic patient records is suggested.     

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.     

Family physicians' beliefs about genetic contributions to racial/ethnic and gender differences in health and clinical decision-making

Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.