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 METHODS: We conducted a qualitative survey of websites, published or unpublished documents, telephone interviews and mailed questionnaires.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.     

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.     

Genetics and congenital malformations: interpretations, attitudes and practices in suburban communities and the shamans of ecuador

OBJECTIVES: The purpose of the present article was to evaluate how shamans and the suburban communities of Quito interpret the terminology used in genetics. METHODS: One hundred people living in 5 suburban districts of Quito were surveyed as well as 19 shamans of the Salasaca community. RESULTS: The results show that members of both groups are little informed about genetics. As knowledge about genetics is correlated to educational level, which is very poor in both groups, knowledge and understanding of genetics are either very basic or nonexistent. As for the medical practices in treating genetic alterations, the surveys show that while in very severe cases scientific medicine is sought, in most cases explanations and a cure are given by shamanic medicine. CONCLUSION: There is limited knowledge of genetics and its terminology in the study population. Shamanic and marginal health practices seem to remain prevalent in these communities due to their low costs, the personal attention the individuals receive, and the holistic point of view employed. It is important that the community councils, the medical doctors and the shamans work together to set up community programs on medical education, particularly on genetics.     

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.     

Parental attitudes and beliefs regarding the genetic testing of children

OBJECTIVES: To explore parental attitudes and beliefs about genetic testing of children for conditions that present throughout the life cycle. METHODS: Twelve semi-structured focus groups with black and white parents were conducted. RESULTS: Across racial groups, most respondents want access to genetic testing and believe that parents should be the final decision-makers. While most respondents believe it is important to share genetic information with relatives, white respondents want physicians to respect confidentiality absolutely, whereas some black respondents accept physician disclosures in specific situations. CONCLUSIONS: Professional policy statements are restrictive about access to predictive genetic testing of children. This conflicts with parental attitudes about who should have decisional authority. While there is consensus among respondents that genetic information should be shared with relatives, respondents disagree as to who should be responsible for disclosure, and when professionals should breach patient confidentiality.     

The educational needs and professional roles of Canadian physicians and nurses regarding genetic testing and adult onset hereditary disease

OBJECTIVE: To investigate the knowledge, professional involvement and confidence of Canadian nurses and physicians in providing genetic services for adult onset hereditary disease. METHODS: 1,425 physicians and 1,425 nurses received a mailed questionnaire with reminders. The response rates were 50% (n = 543) and 79% (n = 975), respectively. RESULTS: Forty-eight percent of physicians and 31% of nurses lacked formal education in genetics. Respondents reported being involved in caring for people at risk for adult onset hereditary disease. Their levels of confidence that they could perform tasks, such as counselling about predictive genetic tests, however, were lower than their levels of expectation that it would be important for them to provide these services. CONCLUSIONS: The expected roles and educational needs of Canadian nurses and physicians have broad areas of overlap suggesting the possibility of combined professional education programs and multiple ways of organizing teams to provide genetic services to people at risk for adult onset hereditary disease.     

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.     

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.     

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

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

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.     

Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey

OBJECTIVES: This study explores factors associated with differential awareness of genetic tests for increased cancer risk in the US. METHODS: 27,405 respondents from the 2000 National Health Interview Survey, ages 25+, were asked if they had heard of these tests. RESULTS: 44.4% said 'yes', including 49.9% of whites, 32.9% of African-Americans, 32.3% of American Indians/Alaskan Natives, 28.0% of Asian/Pacific Islanders, and 20.6% of Hispanics. In multivariate analysis, test awareness was significantly associated with higher education, white race, age <60 years, female gender, private health insurance, personal or parent's history of certain cancers, physical activity, and vitamin/supplement use, among other factors. CONCLUSIONS: The survey showed which population subgroups may lack access to cancer genetics information and may therefore benefit from targeted strategies to ensure risk-appropriate utilization of genetic counseling and testing.     

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.     

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

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

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 education for non-geneticist health professionals

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

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.     

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities

In the current research milieu where genetic etiology is considered a critical component in the discovery of pathogenesis, aboriginal families and communities affected with genetic conditions may be considered as research participants. However, because of concerns about the impact of genetic information and historical harmful research practices, some aboriginal communities have considerable unease when faced with this prospect. Therefore, in the circumstance that genetics is considered an important part of research inquiry by aboriginal families and communities, there needs to be assurance that the research will be carried out according to mutual expectations. A research relationship that respects aboriginal individuals and communities within their culture and is in keeping with their values is essential. This respect extends to the use of biological samples, considering the DNA to be 'on loan' to the researcher for the purpose of the research for which consent was obtained. This paper will explore practical ways of maintaining a respectful research relationship when genetics research with aboriginal people is undertaken.     

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.