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.     

Concerns over participation in genetic research among Malay-Muslims, Chinese and Indians in Singapore: a focus group study

OBJECTIVE: This study was aimed at exploring and comparing peoples' concerns over donation of blood specimens for genetic research across three ethnic groups in Singapore: Malay-Muslims, Chinese and Indians. METHODS: We conducted 12 focus group sessions among 98 participants with 7-10 in each group. RESULTS: Concerns over donation of blood specimens for genetic research were diverse, with all ethnic groups expressing anxiety about breach of confidentiality, finding out that they have a disease and misuse of research for cloning. Other concerns included fear of pain, blood and needle pricks and misconceptions of adverse health effects such as weight gain from donating blood specimens. Malay-Muslims were generally concerned about the selection process, potential racial discrimination, and religious beliefs regarding blood storage while Chinese and Indians were concerned about giving blood to strangers and being inconvenienced by participating in research. CONCLUSION: Programmes to promote community participation in genetic research should address the diverse ethnic concerns, design ethnic-sensitive messages and involve the community.     

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 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.     

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.     

Endogamy, consanguinity and community disease profiles

Considerable attention is paid to the role of consanguineous marriage as a causative factor in the prevalence of genetic disorders. At the same time, the potential influence of community endogamy on overall levels of homozygosity and disease profiles remains largely under-investigated. With the ongoing global epidemiological transition from infectious to non-communicable disease, the impact of genetic disorders will become increasingly important and a thorough understanding of the determinants of human population-genetic structure will be all the more necessary. In particular, the genetic components of adult-onset diseases will become more obvious and assume greater significance. Similarly, refinements of study design to incorporate intercommunity genetic variation appear to be an essential prerequisite in pharmacogenetic research if the concept of individualized treatments is to achieve reality, with equivalent subject-control comparison difficulties also predicted in forensic genetics.     

Creating needs? A review of survey data and concerns relevant to the commercialization of genetic testing

An increasing number of genetic tests are moving from the laboratory to the clinical setting. It seems an appropriate time to assess the interest and receptivity of the public toward genetic testing services. This is particularly so given the concerns that have been expressed about the commercialization of genetic testing technologies. To this end, the paper begins with an overview of the concerns and benefits associated with commercialization. This is followed by a review of a selection of survey data relevant to the potential 'genetic testing market' (i.e., the attitudes, perceptions and knowledge of the public, patients and professionals). We conclude that although emerging data and past experience suggest that the actual uptake of genetic tests may fall short of expectations, the strong public interest and perceived right of access disclosed in the survey research indicate a future potential for a large testing market. As such, the concerns associated warrant careful consideration.     

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.     

Genetic disorders in haematological practice in India

Haemoglobinopathies represent a significant national health burden in India. The distribution of specific disorders varies geographically and by community. Heterozygote frequencies of beta-thalassaemia range from 1 to 15%, resulting in an estimated 20 million carriers. HbS is mainly present in tribal and non-caste communities, with carrier prevalences of up to 40%. By comparison, alpha-thalassaemia carriers are found in both the caste and tribal communities, and can reach a frequency of >90% in the latter case. Community control of haemoglobinopathies relies mainly on out-reach education programmes and genetic counselling, with antenatal diagnosis offered in specific major centres. Only partial data are available on the prevalence of haemophilia, but it has been estimated that there are some 50,000 affected individuals nationwide, with an additional 1,500 new cases born each year. RFLP-based techniques have been established to detect mutations in the factor VIII and IX genes, enabling the limited introduction of carrier detection and antenatal diagnosis.     

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.     

Adaptive exponential cluster synchronization in colored community networks via aperiodically intermittent pinning control

This paper investigates the problem of pinning cluster synchronization for colored community networks via adaptive aperiodically intermittent control. Firstly, a general colored community network model is proposed, where the isolated nodes can interact through different kinds of connections in different communities and the interactions between different pair of communities can also be different, and moreover, the nodes in different communities can have different state dimensions. Then, an adaptive aperiodically intermittent control strategy combined with pinning scheme is developed to realize cluster synchronization of such colored community network. By introducing a novel piecewise continuous auxiliary function, some globally exponential cluster synchronization criteria are rigorously derived according to Lyapunov stability theory and piecewise analysis approach. Based on the derived criteria, a guideline to illustrate which nodes in each community should be preferentially pinned is given. It is noted that the adaptive intermittent pinning control is aperiodic, in which both control width and control period are allowed to be variable. Finally, a numerical example is provided to show the effectiveness of the theoretical results obtained.     

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.     

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.     

Modeling dynamics of?disaster spreading in community networks

In this paper, we investigate the dynamics of disaster spreading in community networks. Unlike the case in other kinds of complex networks, the transitions between the self-healing and spreading dynamics for community networks are in ladder-type in dependent of the recovery time and time delay. Statistical analysis on the average erupting time of disaster in communities shows that large-scale disaster firstly erupts in the community with maximal average degree, which is unrelated with the location where the initial disturbance seed is. Moreover, the average erupting time of disaster reduces along with the decrease of the average degrees of communities. Therefore, the community structure is helpful on the control of the disaster spreading.     

HUGO urges genetic benefit-sharing

In view of the fact that for-profit enterprise exceeds public expenditures on genetic research and that benefits from the Human Genome Project may accrue only to rich people in rich nations, the HUGO Ethics Committee discussed the necessity of benefit-sharing. Discussions involved case examples ranging from single-gene to multi-factorial disorders and included the difficulties of defining community, especially when multifactorial diseases are involved. The Committee discussed arguments for benefit-sharing, including common heritage, the genome as a common resource, and three types of justice: compensatory, procedural, and distributive. The Committee also discussed the importance of community participation in defining benefit, agreed that companies involved in health have special obligations beyond paying taxes, and recommended they devote 1-3% of net profits to healthcare infrastructure or humanitarian efforts.     

Lessons learned while developing a cancer family history campaign in the Columbus, Ohio metropolitan area

This paper discusses the lessons learned by our collaborative, transdisciplinary team while developing a pilot/demonstration educational health campaign geared toward underserved communities in the Columbus, Ohio metropolitan area. The objective of the current study was to determine the feasibility of a campaign to raise awareness of the association between family history and cancer risk and to inform individuals of the availability of Jameslink, an online familial cancer risk assessment tool. The research team included members of The Ohio State University Primary Care Research Institute, which includes a unique combination of expertise in Genetics, Behavioral Science, Social and Health Psychology, Communication, Medicine, and Methodology. The experience of the team in developing university and community partnerships, identifying stakeholders and formulating campaign messages is described. Groups who aided in this process as well as the perspectives they brought to the project are discussed. The lessons learned may be helpful to those developing similar community health projects.     

Benefit sharing in smaller markets: the case of Newfoundland and Labrador

This case report describes recent efforts in the Canadian province of Newfoundland and Labrador to establish an appropriate benefit-sharing model for human genetic research conducted there. The relatively homogeneous population of this island province has proven to be attractive to the drug development industry. However, unlike large-scale national projects that include broad benefit-sharing arrangements from the outset such as those proposed for places like Iceland and Estonia, there are no plans in Newfoundland and Labrador to establish a large gene bank. Hence a benefit-sharing protocol that will assess individual genetic studies on a case by case basis has been proposed. The province is moving toward legislation to establish a Provincial Health Research Ethics Board (PHREB) that will ensure that all human health research conducted in the province receives local ethics review. The proposed benefit-sharing protocol calls for the establishment of a Standing Committee on Human Genetic Research (SCHGR) that will operate in concert with the PHREB and will ensure that research sponsors enter into appropriate benefit-sharing arrangements with the province.     

Methodological considerations in the study of genetic discrimination

The potential significance and dimensions of genetic discrimination have been described extensively in published literature, but epidemiological and verified case data are limited. Obtaining unbiased data from individuals about discrimination which has been based on erroneous or unjustifiable assumptions about their genetic predispositions poses unique challenges. Through review and discussion of research literature, we identify methodological considerations for collecting valid epidemiological data on genetic discrimination from individuals in the community; in particular, we consider issues which relate to sampling, selection and response. We identify issues to promote sound study design, with particular attention to verification of genetic discrimination, and highlight the importance of clinical and genetic knowledge of complex genotype-phenotype relationships.     

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.     

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.