Development and description of GETT: a genetic testing evidence tracking tool.

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.

Genetic screening: A primer for primary care.

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.

Genetic screening: a conceptual framework for programmes and policy-making.

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.

The helix in the labyrinth: do we need genetic health services and policy research?

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.

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years.

Almost 40 years ago, WHO commissioned a report on screening from James Maxwell Glover Wilson, then Principal Medical Officer at the Ministry of Health in London, England, and Gunner Jungner, then Chief of the Clinical Chemistry Department of Sahlgren’s Hospital in Gothenburg, Sweden. The report, published in 1968, was entitled: and it has since become a public health classic.

Managing partnerships and impact on decision-making: the example of health technology assessment in genetics.

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.