Genomics with a Social Side
La Baie, Quebec, November 28, 2005
The theme of the public forum was Genomics with a Social Side, with particular emphasis on the genome and populations as well as communities.
The forum was held thanks to the support of CARTaGENE, the Direction de la santé publique 02, of the Centre de médecine génique communautaire de l'Université de Montréal au Saguenay and the CSSS university research directorate in Chicoutimi.
Mr. Pierre Lavoie opened the forum with a moving account of the tragic loss of two of his children to lactic acidosis. He explained that the experience made him aware of the prevalence of this fatal inherited metabolic disorder in the Saguenay-Lac-Saint-Jean region. As president of the Association de l'acidose lactique, he is committed to raising awareness as well as research funding. From an initial $2000 raised in 1998, the association has succeeded in raising $1-million -- money that has helped fund genomics research.
"In 2003, genomics researchers in Montreal, Boston, Toronto and Chicoutimi, announced they had identified a gene that causes this fatal disorder," said Mr. Lavoie. "This was a true breakthrough. Some 13,000 people in the Saguenay-Lac-Saint-Jean region are carriers -- approximately one person in 22. It is very important to inform people about this disorder without stigmatizing the population. We are promoting voluntary diagnostic tests that can detect carriers, as well as a range of prenatal diagnostic options."
Mr. Lavoie has organized several 650 km cycling marathons as a way of engaging the community, increasing awareness of inherited disorders and raising research funds. The association's objective is to tap into the generosity of the public, and to ensure that a single diagnostic test is developed for five recessive disorders -- lactic acidosis, cystic fibrosis, Charlevoix-Saguenay spastic ataxia, tyrosinemia and neuropathy.
Dr. Gaudet said he is the only Professor of Medicine at the Université de Montréal to work on a daily basis in Chicoutimi -- a sign of his personal commitment to the Saguenay-Lac-Saint-Jean region. He described research work he has undertaken as one of the section leaders of Ecogene-21, a multidisciplinary research programme in Quebec that is focused on the acquisition, integration, transfer and application of human genome-related knowledge in communities. Ecogene-21 was set up in 1999, and then got a tremendous boost from an international conference the following year in the Saguenay region, which was devoted to community genomics.
According to Dr. Gaudet, it is important to document the risk of inherited disorders at the individual as well as the community level. However, increasing demographic mobility means that the initial founder effect in a given population is subject to change.
"My work with Ecogene-21 is mainly devoted to the transition from community genetics to preventive genomics -- to the development of complex management strategies for the prevention, screening and treatment of diseases' genetic component. It is extremely important to establish links between researchers and the community," he said, "and to keep the public informed without skewing consultations. In fact, this has been the key challenge for genomics research over the last two or three decades, and it is an area where we have developed special expertise."
For this reason, Dr. Gaudet advocates building up technological platforms in the Saguenay-Lac-Saint-Jean region, as well as developing and maintaining scientific expertise in the region.
In his comments on Dr. Gaudet's presentation, Mr. Lavoie stated that "our common goal is to build links between researchers and the community," he said, "to prevent inherited disorders and to find cures. There is a lot of solidarity in our region. We are assuming our responsibilities and organizing a collective response to this challenge."
Dr. Gaudet explained that Dr. Laberge, who was detained by poor weather, would have made a presentation about CARTaGENE, a project he is directing in order to map genetic variations in a large reference population in Quebec. Once project funding is secured and the project gets underway, random samples will be collected from 60,000 individuals aged 25 to 74 over a period of four years. The objectives of CARTaGENE are to open the way to large-scale medical, pharmacogenomic and public health studies, for example association studies of common diseases or "protective" phenotypes. This research work will in turn lead to the discovery of new susceptibility genes. Of particular interest to the audience at the Musée du Fjord was the fact that CARTaGENE's demographic component will measure mutation frequencies in the different regions, making it possible to tailor medical genetic services to the needs of the regional sub-populations., and make better use of genetic knowledge and technology in the public health system.
In addition, Emmanuelle Lévesque's presentation would have been devoted to the legal and ethical requirement to obtain the consent of individuals to participate in genomics research projects. (She, too, was detained by poor weather). According to the presentation notes, Quebec and Canadian law protect the individual's right to autonomy, integrity, confidentiality and dignity. Research on the ethics of genomics has shown how important the social dimensions of research are, and how complex the issues, at a time when technological advances often outpace the ability of society to adapt to these changes. "Some people consider that ethical and legal principles are holding up research," Ms. Lévesque said, "but it is vital to protect important rights and principles. In fact, we should strike a balance between the protection of participants in research projects and the continuity of genomics research itself."
The forum offered fascinating perspectives on the interactions between genomics research, initiatives in public education such as The Geee! in Genome, and the community itself. Several people attending the forum noted that social cohesion and solidarity -- values that may characterize the Saguenay-Lac-Saint-Jean region -- reinforce the value of community genetics and provide an interesting context for strategies seeking to prevent, screen and treat the genetic components of diseases. |
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