Memorial a key partner in gene discovery project
By Sharon Gray
A research team at Memorial University, headed by molecular geneticist Dr. Terry-Lynn Young, is partnering with researchers at Dalhousie University in a gene discovery project for Atlantic Canada. The project integrates the potential impacts of genetic discovery on the provision of health-care services, including assessing the well-being of patients and families who are affected by genetic conditions.
Genome Canada is contributing $3.28 million towards the $9.2-million Atlantic Medical Genetics and Genome Initiative (AMGGI). The remainder of the funding will be contributed by a range of regional innovation and health research partners, including Memorial University and the Janeway Foundation.
At Memorial, Dr. Young is the principal investigator for the AMGGI. “The critical piece for the Genome Canada application was that we were able to demonstrate that the molecular genetics work, the lynch-pin of the ‘bench to bedside’ concept of benefit, could be done locally. We were able to create a team with a ‘critical mass,’ including both experienced, and newly-qualified molecular geneticists. This meant that clinicians and researchers could work in direct collaboration with their molecular genetics colleagues, and thus retain scientific ownership over projects.”
Dr. Young said in the past researchers in Newfoundland and Labrador often had to rely on molecular work being done outside the region. But now researchers will be able to oversee a project through the gene discovery phase, the description of the effect of the genotype on the phenotype and, finally, the implementation of the genetic test with local clinical laboratories.
“There are many serious genetic diseases in Newfoundland and Labrador where the genetic defect or the genetic epidemiology is unknown. These include genetic forms of heart disease, colon and breast cancers, blindness and deafness. These conditions will be the first, of many, to be investigated.”
Co-investigator Dr. Patrick Parfrey is head of clinical ascertainment and collections in the province. “This research will lead to improved methods for the early diagnosis of genetic diseases, an essential element in the effective treatment of many of these debilitating conditions.”
Dr. Daryl Pullman, Medical Ethics, is the lead investigator of the GE3LS (Genomics, Ethics, Environment, Economic, Legal and Social Issues) component. Dr. Fern Brunger, a medical anthropologist in the Faculty of Medicine will lead in the design and implementation of the qualitative GE3LS studies.
“We’re the first genomics project in Canada that I’m aware of in which the GE3LS issues are an integral part of the whole sciences project,” said Dr. Pullman. “We were invited in at the very beginning to aid in the drafting of the scientific application in order to integrate this research throughout.”
Dr. Pullman said they will be looking at questions such as physician uptake. “Even if the genetic tests are available, some physicians may not use them because they can’t see what the benefit is going to be to their patients. You can do all the sciences and develop all the tests, but getting it from the lab to the clinic is very much dependent on whether or not physicians are convinced they are beneficial.”
Dr. Brunger said that while the scientists are doing gene discovery, she and Dr. Pullman together with other researchers to be recruited for the Maritimes will spend time talking to the people who will actually be using the results of that science. “We’ll be doing interviews and focus groups with individual patients, with families, and with community groups where there is a high incidence of genetic diseases.”
Dr. Brunger said a cost/benefit analysis includes the meanings and emotions people have around being susceptible to a particular disorder. “Just because a gene is there doesn’t necessarily mean that people want to know whether or not they are at risk for it.”
Dr. Jane Green, a pioneer of genetics research in the province, is a co-investigator on the AMGGI project. “My role is to encourage participation from physicians and specialists throughout the province so they will be comfortable in referring families with relevant genetic conditions to the AMGGI project. I will also assess potential families to determine their appropriateness for this study.”
After 25 years experience in working with families with hereditary diseases, Dr. Green has developed a good rapport with doctors in the province. She noted that participants need to understand that while the genetic research may not always benefit them directly, it may have important benefits for future generations.
Dr. Bridget Fernandez, a clinical geneticist and medical director of the Newfoundland and Labrador Provincial Genetics program, is also an AMGGI co-investigator. She will supervise the phenotyping for certain projects, particularly ones dealing with genetic syndromes characterized by congenital malformations and differences in physical appearance.