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Genetics at the breakfast table
Photo
by HSIMS
Dr. Bridget Fernandez and Dr. Ban Younghusband
By
Sharon Gray
Guests from government, health care organizations, community
groups and the university gathered for breakfast at the Fluvarium
Oct. 17 to find out more about genetic research at Memorial.
The speakers were Dr. Ban Younghusband, interim chair of the
Discipline of Genetics, and Dr. Bridget Fernandez, acting clinical
chief of the Newfoundland Genetics Program.
Dr. Younghusband explained that the Discipline of Genetics is
new and still small, with just five full-time faculty members
and another five faculty involved in collaborative research.
Areas of research include population genetics, genetic epidemiology,
molecular genetics and clinical genetics.
Newfoundland has often been described as a geneticist’s
paradise because its population descends from a small homogenous
group with large families and a stable population. In addition,
excellent family records are available and people are willing
to participate in studies.
There have been many successful results from genetic research
done in Newfoundland, with identification of specific genes for
diseases such as myotonic dystrophy, polycystic kidney disease,
Bardet-Biedl Syndrome, and hereditary colon cancers. Dr. Younghusband
said new areas of research involve complex diseases such as obesity
and diabetes.
The benefits of genetic research are better health care and improved
quality of life for those affected by genetic diseases, as well
as clues to understanding common disorders. Genetic research
also offers the opportunity for economic benefit to the province,
since all this research is funded by outside money.
Dr. Fernandez talked about the clinical aspects of the Newfoundland
and Labrador Medical Genetics Program (NLMGP). Staff include
herself, one half-time clinical geneticist (Dr. Ted Rosales),
medical geneticist Dr. Jane Green, three genetic counsellors
in St. John’s (two at the Janeway and one at the Hereditary
Cancer Clinic), two outreach genetic counsellors and one clinical
assistant.
The laboratory services offered include molecular and cytogenetic
analysis. The molecular lab now offers tests for 10 single-gene
disorders including cystic fibrosis, hereditary colon cancer
and hereditary hemochromatosis. Dr. Fernandez said that while
some genetic diseases are over-represented in Newfoundland, others
are almost non-existent. One objective is to establish a registry
housed at the NLMPG which would identify the 10 most common genetic
disorders in the province in a number of categories including
single gene disorders, multifactorial disorders and congenital
abnormalities.
“We want to offer better screening to families with hereditary
conditions, including where possible the option of a genetic
test for family members at 50 per cent risk of being affected.”
The breakfast talk by Drs. Younghusband and Fernandez was part
of Health Research Awareness Month activities organized by a
new biomedical research marketing group in the Faculty of Medicine.
The breakfast was sponsored by Glaxo Wellcome Inc.