Genetics in health care: an overview of current and emerging models.

BACKGROUND: With advances in genetic and genomic medicine, the optimal integration of genetic services into the health care system remains of major concern in many countries. OBJECTIVES: To review the current organisation of genetic services, mostly in Europe, North America and Australia, explore emerging service delivery models, and probe challenges inherent in the transition process. METHODS: We conducted a literature review of genetics in clinical practice: testing, diagnosis, counselling, and treatment. We examined the basic structures of genetic services, examples of integrated networks, and existing professional resources. We investigated services belonging traditionally in medical genetics as well as those developed for more common diseases. RESULTS: Multidisciplinary specialist clinics and coordinated services appeared to be key to delivering proper care in rare genetic disorders. For oncogenetics, neurogenetics and cardiogenetics, interprofessional collaboration between geneticists and other specialists seemed to be favoured. On the other hand, there was also a tendency toward the integration of genetic services directly into primary care. Among the most pressing challenges was the morphing of paediatric care into adult care. CONCLUSION: The coordination of activities between professionals in first-, second-, and third-line medical care is a primary objective calling for the reconfiguration of professional roles and responsibilities. This entails the forging of new relationships as well as an enhanced sharing of expertise and genetic information, including information regarding services. Barriers to overcome include the redistribution of roles, sharing of data and databases, and the lack of preparedness of non-genetics professionals and of the health care system in general.

The contribution of health technology assessment, health needs assessment, and health impact assessment to the assessment and translation of technologies in the field of public health genomics.

The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1-T4) in genomic medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1-T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed or to identify infrastructural needs. HIA delivers information on the impact of technologies in a wider scope and promotes informed decision making. HTA, HNA and HIA provide a partly overlapping and partly unique set of methodologies and infrastructure for the translation and assessment of genomic health applications. They are broad in scope and go beyond the continuum of T1-T4 translational research regarding policy translation.

Guiding policy decisions for genetic screening: developing a systematic and transparent approach.

With the ever-widening gap between what is technologically possible and services available, jurisdictions around the world are faced with complex decisions regarding the introduction and expansion of genetic screening programs. A series of literature reviews and consultations with stakeholders and experts led to the development of a decision support guide for genetic screening policy-making. This involved establishing a preliminary list of core criteria synthesized from the growing literature on genetic screening, which was then transformed through a series of consultations into a more elaborate decision guide. Although certain perennial challenges in genetic screening policy-making remain, the decision support guide aims to promote a fair and evidence-informed process that makes explicit the ethical dilemmas often inherent to such policy decisions.

Prevention and genetic testing for breast cancer: variations in medical decisions.

The discovery linking the genes BRCA1&2 to familial breast cancer played an important role in the clinical practice of geneticists and physicians. The availability of genetic tests for BRCA gene mutations prompted cancer geneticists to give information about genetic risk and to assess many women with a personal or family history of breast or ovarian cancer to inform them of preventive measures. These consist mainly of breast self-examination, mammography screening, chemoprevention and prophylactic surgery (mastectomy, oophorectomy). This paper examines clinical practices related to hereditary breast cancer testing and introduces a number of results from a survey carried out, between 1996 and 1998, in three clinics located in Montreal (Quebec, Canada), Marseilles (France) and Manchester (Great Britain). Results show substantial differences in the way cancer geneticists deal with environmental risk factors, breast and ovarian cancer testing, and chemoprevention and prophylactic surgery. Differences across cities persist in the multivariate analysis, suggesting that attitudes towards preventive measures may be partially explained by cultural factors. Different dimensions of culture are discussed including the social representation of health and risk, the interpretation of scientific evidence and the role of innovation leadership.

Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women.

BACKGROUND: The authors investigated the acceptability to women of the preventive strategies available for dealing with hereditary breast/ovarian carcinoma in France, the United Kingdom, and Canada, countries selected because of their cultural differences. The authors aimed to discover the existence of specific factors that may affect acceptability of these preventative measures. METHODS: A cross-sectional, multicenter survey was conducted in Marseilles, France (n = 141), in Manchester, England (n = 130), and in Montreal, Quebec (n = 84). All of the women attending cancer genetic clinics for the first time because of a family history of breast-ovarian carcinoma completed a self-administered questionnaire before their clinic consultation. RESULTS: Variations in responses to different preventative options presented on the questionnaire were seen within the sample of patients considered as a whole. The highest levels of acceptability were obtained for mammographic screening (87%) and chemoprevention (58%). In contrast, prophylactic oophorectomy and prophylactic mastectomy were thought to be acceptable at an early age (before 35 years), an age associated with the highest prophylactic efficacy, by only 19% and 16% of the respondents, respectively. After multivariate adjustment, the statistical data showed that the British respondents were more in favor of oophorectomy (P < 0.0001) and more in favor of chemoprevention than the French (P < 0.001) and the Canadian respondents (P < 0.001). The British (overall adjusted response [OR(adj)] = 3.9; P < 0.001) and Canadian respondents (OR(adj) = 3; P < 0.01) were more in favor of prophylactic mastectomy than the French. The cumulated acceptability of mammography before the age of 40 years was found to be greater in the French (OR(adj) = 2.8; P < 0.01) and Canadian (OR(adj) = 3.1; P < 0.05) samples than in the British sample. CONCLUSION: These results demonstrated the existence of international variations in the acceptability of the preventive strategies available for women at risk for hereditary breast/ovarian carcinoma. Therefore, these results suggested that when establishing medical recommendations or planning public health interventions, physicians must integrate the population's perception of advantages and drawbacks with the patient's individual decision making.

Referral patterns for children with chronic diseases.

A sample of 1377 physicians were surveyed by mailed questionnaire to study to what extent primary care physicians are involved in the long-term care of children with chronic disorders. The sample included all pediatricians practicing in the province of Quebec and a stratified random sample of general practitioners (10% sample in urban areas and 25% sample in rural areas). A response rate of 81% was achieved. Referral patterns were studied for asthma, congenital heart disease, and diabetes. Although pediatricians referred their patients less frequently than general practitioners, referral patterns depended mainly on the clinical condition. "No routine referral" was the most popular management strategy for asthma, whereas for congenital heart disease and diabetes more than 20% of physicians referred their patients for all aspects of care. Rural physicians tended to assume patient care to a greater extent than did urban physicians. Most pediatricians referred patients directly to subspecialists practicing in tertiary care centers, whereas general practitioners often sent patients to pediatricians practicing elsewhere, or to other specialists. These data suggest that the availability of medical resources in the community and accessibility to tertiary care centers also influence physicians' involvement in the long-term care of these children.