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Making genetic testing more inclusive

Myriad Genetics’ innovative approach to genetic testing gives more women the information they need to stay healthy

Making genetic testing more inclusive
Myriad integrates ancestry genetic markers and epidemiological risk factors into the testing process to give patients a better sense of their risk of developing breast cancer.

For the past 30 years, Myriad Genetics has been involved in genetic testing to help women determine their risk of breast cancer. Typically, about 5% of women test positive for a high-risk genetic mutation. For them, heightened surveillance could be a life saver. But for the 95% of women who test negative, the results are significantly less useful. After all, not having the genetic mutation doesn’t necessarily mean you aren’t at risk for breast cancer.

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Now, Myriad has developed a more extensive platform that integrates additional ancestry genetic markers and epidemiological risk factors into the traditional testing process. The goal is to give patients a more definitive sense of their risk of developing breast cancer. More importantly, genetic risk factors vary among different patient populations. Myriad’s RiskScore assessment looks for risk factors among women across all ancestries—not just the European ancestries that historically have been the focus of genetic testing.

“Our team worked diligently to gather additional data and re-engineer a new scientific model to make risk scoring for breast cancer equitable across all ancestries,” says Nicole Lambert, chief operating officer of Myriad Genetics. “Now we can give a much more precise result that’s individualized to a specific woman, according to her genetic makeup and additional risk factors.”

In addition to a more robust measurement of lifetime risk, the test also provides an estimate of the likelihood of getting cancer within the next five years, allowing women to assess how urgently they need to take proactive screening or preventive measures. The additional risk factors added to the equation allows the test to provide a more nuanced view of cancer risk. Of the patients who undergo hereditary cancer testing from Myriad and receive a RiskScore result, approximately 56% qualify for medical management changes, and can then take precautions due to their elevated cancer risk. As a result of Myriad’s efforts to close this critical gap in healthcare, Fast Company‘s editors selected it as one of the world’s Most Innovative Companies.

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THE VALUE OF PRECISION

Lambert knows the value of a personalized risk score personally: Her mother and her aunt, who both tested negative for the standard hereditary cancer mutations, each were diagnosed with breast cancer. Through Myriad’s testing, her results showed that she had an elevated risk, which spurred her to undergo preventive surgery. At that point she discovered she had already had two undetected breast cancers.

“I felt really empowered having the information and making those decisions, but imagine how great I feel afterward, knowing that things could have been really different,” she says. The ability to look at near-term risk is especially valuable for younger patients who need to decide when to act—and what kind of action to take.

Myriad built its improved capabilities on a mountain of data. Over the past three decades, the company has tested more than 5 million women across a wide variety of patient populations. Meanwhile, it continues to collect more data and refine its analysis. “It allows us to continue to innovate and discover things that will improve preventive medicine,” Lambert says.

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