Dr. Terry-Lynn Young

A new twist on genetic discovery

A research team at Memorial University, headed by molecular geneticist Dr. Terry-Lynn Young, is partner with 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 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 the 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.

The AMGGI team at Memorial is led by Dr. Terry-Lynn Young (sitting). Co-investigators include Drs. Patrick Parfrey, Daryl Pullman, Fern Brunger and Jane Green. This photo was taken in front of the DNA sequencer in Dr. Young’s lab.

“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 – along 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 sciences. “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.”

A cost/benefit analysis may intuitively seem to be about finding genes and developing tests for people at risk of a genetic disease, but Dr. Brunger said that is a very simplistic way of looking at it. “There are a lot of meanings and emotions around being susceptible to a particular disorder and we know very little about what it really means for people, in the context of their everyday life, to be at risk. The cost and benefits can’t be interpreted by what the scientific world thinks makes sense because people don’t work that way. 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. Pullman said the economics assessment piece of the GE3LS study will be headed up by health economist Dr. Christine Kennedy, who comes from Newfoundland and currently holds a faculty appointment at the University of Calgary.

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.

Co-investigator Dr. Bridget Fernandez

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.

“I am doubly thrilled by the success of this grant,” said Dr. Fernandez. “One of my own projects is looking at the genetics of familial pulmonary fibrosis – a rare inherited lung disease. It has received matched funds through AMGGI."

“Overall this grant will provide Memorial researchers with the infrastructure to better study a much larger number of single gene disorders than has previously been possible. We all hope that this will lead to better understanding of how the disease develops in each condition, which in turn should translate into both immediate and long term benefits for the families where these diseases occur.”