Medcan wins Johns Hopkins Award for genetic testing study

Proactive screening reveals unexpected results

In October, the Medcan Genetics team was recognized with an award for “Innovations in Healthcare Delivery” by Johns Hopkins at an international medical conference at Bogota, Columbia.  The conference brings international healthcare leaders together to share and learn best practices and collaborate on solutions to challenges.  It also allows critical review by Johns Hopkins academics and global leaders on the quality and impact of work in the healthcare field. Here’s a summarized version of the presentation. 

Traditionally, genetic testing has only been offered to individuals who have a strong personal or family history of a known genetic condition. There is currently limited information about how common genetic mutations are in healthy individuals, who have no significant family history of disease.  Published studies suggest that between one and 9% of individuals in the general population have an identifiable genetic risk that could be medically actionable.

In September 2017, Medcan launched the Proactive Genetic Screening program. This program is designed for healthy individuals, and aims to identify genetic risks associated with hereditary cancer and cardiac predispositions that could result in increased screening, early detection, and improved overall health outcomes.

Surprising results: Redefining “rare”

In the first year, 1000 clients completed the Proactive Genetic Screening program. We found approximately 15% of our clients received a “positive” result, meaning a result associated with an increased risk for a medically actionable condition.  This positive rate was higher than we anticipated based on published studies. Of those with a positive result, 80% were given medical screening recommendations that were different from their current screening protocols. For example, some clients were recommended to have more frequent colonoscopies or breast MRI screening in addition to mammography. Others were recommended to have cardiac imaging and referred to specialty Cardiology clinics.

Traditionally, we have relied on family history to determine who should have increased cancer or cardiovascular screening. Interestingly, in our population only 34% of individuals who received a positive result had a family history of the associated condition(s), suggesting that these mutations are not only more common than we originally thought, but may not be as severe in some families. Only 7% of individuals who tested positive for a genetic mutation would have qualified for government funded genetic testing.

In addition, 43% of individuals received a genetic “carrier” result. This type of result does not impact the individual directly, but can provide important information for their relatives (namely children and siblings).

“Precision Prevention”

Our data suggests that there is benefit to offering genetic screening in low and moderate-risk individuals. We are already seeing, for example, that mutations in the BRCA1 and BRCA2 genes are over two-times more common than previous research had suggested. As we continue to offer this Proactive Genetic Screening program, we hope to broaden our understanding of hereditary conditions, which will allow us to provide more personalized prevention for individuals and their families.

The Medcan Genetics team includes: Allison Hazell (Director), Jessica Gu, Heather Andrighetti, Jill Furnival, Monica Zarb and Dr. Lea Velsher. For more information or to book an appointment, please contact 416-350-5900 or email Genetics@medcan.com

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