"Government is looking for cost-effectiveness in all forms of medicine, and we want to show that this form of testing is worthwhile," said Dr. Dawna Gilchrist, a specialist in adult medical genetics at the University of Alberta. A one-year clinical case study conducted by Gilchrist, and other researchers at the University of Alberta and the University of Calgary, shows that significant cost-savings were achieved while testing a large family for a rare cancer syndrome.

The findings were published in this month's issue of Clinical Genetics.

Dr. Gilchrist, said little data exists on paper to show that genetic testing is cost-efficient. "Through papers such as this, governments may be more inclined to increase funding for genetic services and testing." The case study helps document that genetic testing for mutations in well-characterized, dominant genes is cost-efficient because it either rules in or rules out carriers. The need for further clinical screening is eliminated in those without the mutation.

"Savings are realized when family members are proven not to be at risk for a disorder, and further genetic and clinical screening is unnecessary," said Dr. Gilchrist, lead author on the paper. "The savings can be appreciated both immediately and in the future. And, we've brought relief to the person worried about inheriting a disorder." In this particular case, two asymptomatic family members, found to have the mutation, were able to have prophylactic surgery to significantly decrease their risk of cancer in the future--also a potential savings in health care costs.

The cost analysis was done while testing a large family for multiple endocrine neoplasia type 2, a rare hereditary syndrome consisting of cancers o
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Contact: Bev Betkowski
beverly.betkowski@ualberta.ca
780-492-3808
University of Alberta
31-Oct-2004