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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. Keywords: Breast cancer; Genetic testing: Medical decision-making

Background: The completion of the Human Genome Project has increased the pace of discovery of genetic markers for disease. Despite tremendous efforts in fundamental research, clinical applications still lag behind expectations, partly due to the lack of effective tools to systematically search for and summarize published data relative to the clinical assessment of new diagnostic molecular tests., Methods: Through a collaborative process using published tools and an expert panel, we developed a detailed checklist of the evidence that needs to be collected or produced to evaluate the potential usefulness of a new molecular diagnostic test. This tool is called GETT, for Genetic testing Evidence Tracking Tool., Results: GETT allows 1) researchers to summarize the current evidence and to identify knowledge gaps for further research and; 2) stakeholders to collect data related to a given molecular test and improve their decision-making process. GETT comprises 72 clearly defined items/questions, grouped into 10 categories and 26 sub-themes, including an overview of disease epidemiology and genetics, the available diagnostic tools, and their analytical and clinical performances, availability of quality control programs, laboratory and clinical best practice guidelines, clinical utility, and impact on health care and psycho-social, ethical and legal implications. It also includes a summary of the evidence available and attempts to prioritise knowledge gaps related to the testing. We also compare GETT to other existing frameworks., Conclusions: This systematic evidence-based tracking tool, which is more detailed than existing frameworks and provides clear definition for each item, will help streamline collection of the available evidence to appraise the potential for clinical application of new molecular diagnostic tests and prioritize research to produce the evidence-base relative to the clinical implementation of molecular diagnostic tests.

Objective: To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate., Quality of Evidence: As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature., Main Message: Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole., Conclusion: Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to make more informed choices.

Objective: Policy-makers are faced with increasing pressures from a range of different stakeholders to introduce or expand genetic screening programmes. A shared understanding is therefore needed of the many factors influencing these complex policy decisions. Our aim was to develop a theoretical framework that highlights the multiple components and influences involved in genetic screening and the policy-making process., Methods: As part of a larger research programme, existing policy frameworks relating to genetic screening were identified through a review of the literature. Major themes were identified and synthesized into an overarching framework, which was further refined through discussions with key informants., Results: The framework consists of three parts. The first part conceptualizes genetic screening as an integrated public health programme. The second part describes the policy-making process at each stage in the life cycle of the programme. The third part depicts the broader context within which policy-making occurs., Conclusion: This framework can support policy-makers by fostering a common understanding and facilitating dialogue with stakeholders. The framework has also been used as the conceptual foundation for the development of a more elaborate decision-guide.

In Canada and elsewhere, targeted health services and policy research (HSPR) has been suggested as a means to clarify the health system implications of developments in genetics and genomics. But is such research really needed? We argue that substantial investments in basic genetic and genomic research, coupled with persistent uncertainty about the health system implications of advances in these fields, justify the development of specialized HSPR in genetics and the sustained involvement of the wider HSPR community. Genetic health services and policy research will play a crucial role in informing decision-makers at all levels of the health system about whether and how to integrate developments in genetics, genomics and other complex new technologies., (Copyright © 2008 Longwoods Publishing.)

For an emerging field such as Public Health Genetics, the partnerships that will be developed with stakeholders are of strategic importance, since they may affect long-term impact on policy-making. A concrete example in the field of health technology assessment in genetics was chosen to illustrate how the context in which scientific advisory bodies operate and the nature of partnerships developed over time influence the impact on decision-making at different levels, from the micro (professional) level through the meso (institutional) level to the macro (policy) level. As pointed out in the knowledge transfer literature, impact is not only reflected by instrumental use of knowledge, but also by problem-framing and strategic use of knowledge. Solid partnerships at the micro level, with researchers and health care professionals, are essential to build credibility and trust, and they lay the groundwork for contextualized and relevant advice and potential impact at the policy level. Even though maintaining the necessary critical distance with respect to all stakeholders is easier for institutions that are at arm's length from government, achieving the right balance between an institution's independence and service relationship is a real challenge., (Copyright (c) 2006 S. Karger AG, Basel.)

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.