Genetic discoveries map out your health risks, if you can keep up with them

Genetics discoveries are rapidly identifying the people at greater risk for cancers and other diseases, but researchers at HealthPartners are concerned that they are happening too fast for doctors and patients to keep up.

The Bloomington-based health care provider is testing a new alert system to close that knowledge gap by identifying patients with inherited risks for diseases and automatically alerting their doctors of their need for testing. Screening guidelines changed three times in the past 18 months, just for breast and ovarian cancers, after researchers identified genetic variants that increased risks of those diseases, said Dr. Patrick O'Connor, a senior researcher with HealthPartners Institute.

"There is a risk of information overload," O'Connor said. "That's why we're creating a system to help organize these data in a way that's clear to patients so they can make informed decisions about treatment options that may be of benefit to them."

Using a $3.2 million federal grant announced earlier this week, HealthPartners hopes its alert system will hasten testing, which in turn will hasten diagnosis and treatment of diseases before they become severe or fatal. The goal is precision medicine — tailoring treatments based on patients' unique circumstances — but O'Connor said there are many examples in health care now when that approach is underused.

Research has identified numerous genetic variants that affect the course of type 2 diabetes, for instance, but those nuances aren't widely used right now to customize treatments, O'Connor said. Antidepressants are dispensed at a common starter dosage without consideration of the known variants that can dictate how well they will work, he added.

HealthPartners' study will identify patients at 40 clinics in Minnesota and western Wisconsin who haven't followed up on genetic testing results, even though they have one of seven variants linked to elevated risks of breast, colon or ovarian cancers. Doctors at 20 of those clinics will be prompted by the new alert system to talk with these patients about recommended tests or treatments. Researchers expect that these patients will receive more recommended screenings over the next three years than a comparison group of patients at the 20 other clinics that aren't receiving alerts.

'Difference can be gigantic'

Genes are chemical strands that program the body's cells based on hereditary information passed down from parents to children. Millions of variations alter how genes work in the body, but a much smaller portion has been linked through research so far to elevated rates of disease.

The Centers for Disease Control and Prevention recommends testing for 11 genetic variants that have proven links to cancer or heart disease, including the variants of the BRCA1 and BRCA2 genes that are closely tied to breast cancer. The American College of Medical Genetics and Genomics lists 81 variants that should be reported to doctors and patients because of their links to treatable conditions.

If HealthPartners' system works, it will be expanded to alert patients to other clinically important variants. Some only cause minute shifts in disease risks, while one known variation can increase lifetime risk of ovarian cancer from 1% to 70%. Another can identify smokers who have the best chance of reducing heart attack risks if they quit their habits.

"The difference can be gigantic in some cases," O'Connor said.

Deenya Craig, 52, of Maple Grove didn't hesitate when testing identified a BRCA2 mutation that increased her cancer risks and explained her family's tragic history with the disease. One cousin recently died from prostate cancer while another struggled with an aggressive breast cancer. The result "opened doors that previously had been closed," she said, including consultations with cancer specialists and insurance coverage of preventive treatments. She had a mastectomy last year to remove breast tissue that posed cancer risks, and had a gynecological procedure this month to reduce her risks for ovarian cancer.

Craig spread the word of her results, and now her sisters and three of her six children have been tested. Her whole genome testing of thousands of genes at once produced other interesting information about her susceptibility to caffeine and sleep disturbances, but mostly she said she felt empowered by the knowledge about her cancer risks.

"It gives the control back to you over your health instead of sitting and wondering what, if or when," Craig said.

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More genetic testing

Craig received free testing through HealthPartners' partnership with California-based Helix Inc. to gather genetic data from 100,000 volunteers. The myGenetics program is designed to alert volunteers to health risks but also amass genetic information for further identification of troublesome variants. Out of 40,000 volunteers, testing has found more than 600 with inherited risks for breast, colon or ovarian cancers.

Mayo Clinic will soon publish interim data from a similar project called Tapestry, which is recruiting 100,000 volunteers from its campuses in Minnesota, Arizona and Florida to identify those with any of the 11 CDC-identified variants. Results will show how many people with these variants wouldn't have qualified for screening under current insurance and health system guidelines, said Dr. Jewel Samadder, co-director of precision oncology at Mayo Clinic's cancer center in Arizona.

Mayo also will be following 15,000 of these patients over five years to compare their health and health care spending with patients who don't have any of the variants. Screening just for the breast cancer variants used to cost $5,000, but now tests of thousands of genes at once cost around $500. Samadder said health systems will need to expand to account for a new generation of patients who are acting on this affordable genetic information.

Some studies already estimate that the cost is low enough to warrant widespread testing because it will end up saving money by identifying cancers before they require high-cost treatments.