|
Thèmes de recherche
|
|
Le consortium étant pan canadien avec des membres internationaux, tous nos documents sont rédigés en anglais. Nous faisons un effort pour traduire en français la majorité d'entre eux, mais ce travail n'est pas encore complété. SVP nous excuser pour la disponibilité exclusivement en Anglais de certains textes et illustrations. APOGEE-Net/CanGèneTest will aim to: 1) evaluate the
effectiveness of genetic health services in Canada by studying a) the
dynamics between actors and institutions that impact on the ability to
lead a rational development of genetics laboratories; b) the current
status and use of genetic laboratory services; 2) study the validity
and cost-effectiveness of various genetic diagnostic tools, using
empirical data from the population; 3) develop tools and approaches to
help decision makers establish the relevance of introducing new genetic
diagnostic technologies (with or without a solid evidence-base); 4)
adapt health technology assessment approaches to genetic laboratory
innovations; 5) lay the grounds for a systematic knowledge transfer
strategy that will bridge producers, users, policy makers, service
providers and consumers in genetic health services; and 6) study the
regulatory framework of the public offer of testing and of laboratory
practices.
Since 1990, the rate of gene discovery has been
exponential. These discoveries have set the foundation for the
understanding and acceptance that genes are a significant determinant
of health and response to healthcare, and that virtually all disease
has a genetic contribution to its causation. In the very near future,
genetics will likely identify which individual genes, or group of
genes, are associated to disease susceptibility or protection and which
ones affect our response to therapy. For instance, knowledge of inborn
errors of metabolism facilitates diagnosis, prevention and treatment.
This experience sparked great interest in determining how genetic
factors predispose to common disease. Since 1980, billions were
invested in genetics and genomics research worldwide to begin to answer
this question. In the past decade, Canada alone invested an estimated
$600 million in human genetic research, and Canadians have made
significant contributions to gene discovery. However, to date there has
been little research to determine how these discoveries can be
translated into practice and therefore improve health. We do not yet
know how best to capture the benefits of this new knowledge. This lack
of knowledge is highlighted by the fact that the effectiveness of
commonly used tests, such as the BRCA breast cancer gene test, is often
not established. Indeed, all developed countries have failed to
effectively deliver new medical knowledge to their populations.
|
 |
|
|
Capturing the health, social and economic benefits of
genetic innovations is a significant opportunity for Canada, and a
major objective of this research program. Genetic laboratory services
are a cornerstone of genetic services which rely on effective and
timely diagnosis of a genetic condition or carrier status. Genetic
testing is currently used to: confirm a diagnosis where symptoms
already exist (such as fragile-X syndrome); indicate whether someone
with a family history of late-onset disease is likely to develop the
disease (such as Huntington's disease); test whether someone is a
carrier of a recessive disorder (such as cystic fibrosis); or screen
before or after birth for genetic disorders (such as Down syndrome and
phenylketonuria respectively). Genetic laboratory services interface
with all aspects of health services delivery and policy making. Indeed,
as shown in the above figure, they are located at the interface with
gene discovery and technology development in genetics, technology
assessment and clinical evaluation, health care professionals (medical
geneticists, genetic counselors, primary care and other physicians),
public health, public policy, and the population through accessibility
to laboratory services. Interactions between interfaces and
stakeholders are principally realized through decision-making processes
and tools, including evidence-based laboratory medicine, computer
simulation, health economics, knowledge transfer tools and web-based
education. Diagnostic tools emanating from gene discoveries need to be
evaluated for their medical utility, cost-effectiveness and impact on
quality of life. Government health agencies are currently ill prepared
to develop policies aimed at health professionals and decision makers
in order to increase the contribution of genetics to the general
objectives of the health care system. Despite huge investments to
discover and develop new technologies, Canada has minimal and dispersed
capacity to evaluate not only the effectiveness of new tests and
treatments, as mentioned in the Romanow and Kirby Commissions and the
2003 Federal, Provincial and Territorial Health Care Renewal Accord,
but also the dynamics that underlie the development of the field and
their consequences on the continuous capacity of the health care system
to meet its fundamental objectives. Recently, different projects, led
by members of APOGEE-Net/CanGèneTest, were initiated to enhance
technology transfer and knowledge translation downstream of genetic
discovery. However, these initiatives are fragmented and do not
individually encompass the full spectrum of expertise necessary to
integrate cost-effective genetic innovations into health care in a
timely manner. We propose to interface several such initiatives and
build on them, thereby leveraging both the expertise and the resources. Pour plus d'information
|
|
|
