Attitudes about genetics in underserved, culturally diverse populations

OBJECTIVE: New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally diverse communities. METHODS: To better understand attitudes and beliefs towards genetics and genetic testing in these groups, we conducted eight focus groups with 55 patients and health care workers in New York City and Westchester, N.Y., in English, Spanish, and Chinese. RESULTS: Focus group participants had limited understanding about genetics or genetic testing. Newborn screening was the least-known genetic issue, even among health care workers. Regardless of their cultural group, most participants expressed a desire for more information about genetics and genetic tests. Latinos and Chinese participants generally expressed positive attitudes towards genetic studies and genetic testing, with the possibility of preventing diseases cited as the main advantage. Black Americans and Non-Hispanic Whites reported mixed feelings about genetic research and genetic testing. Concerns expressed included: anxiety before receiving test results or waiting for a disease to develop, fear of genetic discrimination by health and life insurance companies and employers, not having the financial means to deal with genetic diseases in themselves or a sick child, concern that children and adults are having too many tests. Black Americans expressed the most concern for possibly harmful use of genetic information. CONCLUSIONS: Minority populations of diverse cultures have limited knowledge about genetics and genetic testing, would like to have more information, and are not well reached by the current educational approaches. Participants knew the least about newborn screening, a test that is mandatory in the New York State. While genetic knowledge by minority populations was perhaps not different from the level of knowledge of consumers in general, minority populations are at particular risk of being left behind because of historically poor access to information and services.     

Clinical genetics in developing countries: the case of Brazil

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

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.     

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).     

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.     

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.     

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.     

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.     

Cancer genetics service provision: a comparison of seven European centres

OBJECTIVE: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. METHODS: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. RESULTS: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70-90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. CONCLUSION: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.     

Genetic services in the new era: Native American perspectives

American Indians have arrived at a critical point in their more than 500-year history with the United States Government. With the advent of the new bio-revolution, a number of tribes have voiced vehement opposition to genetic patenting, creation of cell lines, transgenic experimentation and cloning. While many are opposed to the Human Genome Diversity Project, Human Genome Project and diversity research currently being conducted by the Indian Health Service, a few embrace the beneficial aspects of biomedical/biogenetic research. Moreover, an increasing number of Indians see the need for and are seeking genetic counseling and other services. This paper briefly describes some of the issues associated with developing and implementing effective genetic services within Native American communities. Problems of access, perception of services, previous experience with genetics and cultural and other barriers are discussed. Recommendations also are rendered to assist health professionals in the development of services.     

Genetic education to diverse communities employing a community empowerment model

Lack of equity in access to health care, in general, and genetic services in particular, places communities of color at a distinct disadvantage when considering the rapidly evolving genetic technology. Much of this disparity is owed to lack of trust and credibility in the genetic care system as well as multiple ethnocultural barriers to services. This paper presents a 3-year community outreach demonstration project in genetic education. The project employed the premise that the empowerment of the target communities to take active part in their genetic education, with attention to a wide array of the community's health care needs, is the most efficacious manner in which to provide genetic education to underserved communities.     

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.     

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.     

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.     

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 counselling: evolution or involution?

The need for genetic counselling derives from the peculiarities of genetic information, as compared to other biomedical tests, with particular reference to (a) its predictive character; (b) the existing gap between the ability to diagnose and to treat an inherited disorder, and (c) the psychological, social and ethical problems that genetic testing can raise. Counselling is traditionally performed by healthcare professionals, specifically trained to help individuals to develop ways of dealing with genetic information and gain a better understanding of the problems related with it. The growing number of genetic tests (for rare Mendelian as well as for common disorders), the development of easier and cheaper molecular techniques, the increasing tendency of physicians to have recourse to genetic tests, by-passing alternative diagnostic procedures, are all factors that contribute to the vast increase in the demand for genetic tests, a demand which is significantly out of step with the available numbers of trained counsellors. This paper discusses possible solutions, including the institution of committees with regulatory powers on genetic testing, the promotion of studies on models of genetic services, on programmes to monitor the services currently offered by test providers, and the expansion of training programmes and of employment opportunities for genetic counsellors.     

Genetic services in Colombia

Medical genetic services, including clinical genetics, cytogenetics, biochemical and molecular genetics and paternity testing, are performed in Colombia in the more developed medical schools or university institutions, in nine major cities of the country. Accessibility to genetic services is limited by medical care reimbursement laws which do not cover clinical genetic services nor genetic tests. Paternity testing is performed free of charge by a governmental welfare institution, if a legal claim is made against an alleged father. Basic teaching of genetics in medical schools is mandatory, but is very uneven and limited to the better schools. Postgraduate medical genetic training is offered by four different programs of similar quality. Research is performed on some of the most prevalent genetic conditions and on population genetic issues.     

Analysis of the population structure in Oman

Knowledge of a population structure can be a unique aid in planning genetic services. In order to facilitate the development of genetic services in the Sultanate of Oman, a tribal data base has been developed. The historic records of the beginning of the 19th century were used as the basis and were updated with contemporary information. The tribal data base includes tribal names, locations, and the main 185 major tribes and their subsections. Tribal data can be used for health care planning and the development of disease-specific genetic registers if the hospital records also include the tribal name. They may also provide a useful aid in genetic screening and disease prevention programmes, as when specific mutations are found in rare diseases, it is likely that these will be found to be exclusive to specific tribes, and laboratory testing will be greatly simplified. It is likely that similar data bases could be developed elsewhere in the Middle East and in the immigrant communities in Western Europe.     

Life and health insurance behaviour of individuals having undergone a predictive genetic testing programme for hereditary non-polyposis colorectal cancer

Objective and Methods: We describe the insurance behaviour of subjects (n=271) who had previously taken a predictive genetic test for hereditary non-polyposis colorectal cancer (HNPCC); 31% of them were mutation positive, indicating a high risk of cancer. One year after testing, subjects were sent a questionnaire including questions about their present life and health insurance before participation in the study, and their actual and planned purchase of the insurance policies during the testing programme which compromised a pre-test counseling session, a period for reflection, the testing, and a test disclosure session. Results: Thirty percent reported that they already had a life insurance and 14% a health insurance before participating in the study. The mutation-positive subjects possessed a health insurance significantly more often than the mutation-negative individuals (21 vs. 11%, p=0.02) and similar trend was observed for life insurance (36 vs. 28%, p=0.12). Life and health insurance policies purchased just before testing was reported by 3 and 2% of the subjects, respectively. Life and health insurance policies purchased after testing were reported by 3 and <1% respectively, and planned purchase by 3 and 2%, respectively. No statistically significant differences were found between the groups defined by mutation status in reports of life or health insurance behaviour during or after the programme. Conclusion: According to self-reported data, the mutation-positive subjects did not differ from the others in the purchase of life or health insurance policies. However, the mutation-positive individuals reported that they possessed health insurance policies before entering the study more often than their counterparts.