Genetics testing saves health care dollars

Genetic testing for disorders, especially in large families, can save the public health care system thousands of dollars in the long term, according to new research at the University of Alberta.

“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 of the thyroid and adrenals as well as abnormalities in calcium control. As a result of initial genetic testing, which involved analysing DNA from seven people, another 40 family members did not require further genetic testing. That resulted in one-time savings of $4,800.

Overall, 54 family members were eliminated from clinical screening, including MRIs, resulting in yearly savings of about $16,900 and additional savings every three years of $31,590. For every at-risk person identified as not carrying the family mutation, the annual savings in clinical surveillance costs amount to at least $508 per person, per year.

The study has positive connotations for families affected by other hereditary cancers such as the breast-ovary cancer syndrome, Dr. Gilchrist said. “The government wants to see anything that is saving us money. This is something that shows we are providing real value to our patients and the health care system.”