Genetic discoveries are helping to quickly identify people at highest risk for cancer and other diseases, but HealthPartners researchers worry that these discoveries are happening too quickly for doctors and patients to keep up.
The Bloomington-based health care provider is testing a new alert system to address this knowledge gap by identifying patients with hereditary risks of diseases and automatically alerting their doctors of the need for testing. Screening guidelines have changed three times in the past 18 months, just for breast and ovarian cancers, after researchers identified genetic variants that increase the risks of those diseases, said Dr. Patrick O’ Connor, senior scientist at the HealthPartners Institute.
“There is a risk of information overload,” O’Connor said. “That’s why we’re creating a system to help organize this data in a way that’s clear to patients so they can make informed decisions about treatment options that might benefit them.”
Thanks to a $3.2 million federal grant announced earlier this week, HealthPartners hopes its alert system will speed up testing, leading to faster diagnosis and treatment of illnesses before they become serious or deadly. The goal is precision medicine — tailoring treatments based on patients’ unique circumstances — but O’Connor said there are now many examples in health care where this approach is underutilized.
Research has identified many genetic variants that affect the course of type 2 diabetes, for example, but these nuances are not widely used at present to personalize treatments, O’Connor said. Antidepressants are given at a common starting dose without taking into account known variants that may dictate their effectiveness, he added.
HealthPartners study will identify patients at 40 clinics in Minnesota and western Wisconsin who have not followed up on genetic testing results, even if they have one of seven variants linked to high cancer risks breast, colon or ovary. Doctors at 20 of these clinics will be prompted by the new alert system to discuss recommended tests or treatments with these patients. Researchers expect these patients to receive more recommended screenings over the next three years than a control group of patients at the other 20 clinics who do not receive alerts.
“The difference can be gigantic”
Genes are chemical strands that program the body’s cells based on hereditary information passed from parents to children. Millions of variations change how genes work in the body, but a much smaller portion have been linked by research so far to high rates of disease.
The Centers for Disease Control and Prevention recommends testing for 11 genetic variants with proven links to cancer or heart disease, including BRCA1 and BRCA2 gene variants that are closely linked 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 diseases.
If HealthPartners’ system works, it will be expanded to alert patients of other clinically important variants. Some cause only minute changes in disease risks, while a known variation can increase the lifetime risk of ovarian cancer by 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 tests identified a BRCA2 mutation that increased her cancer risks and explained her family’s tragic history with the disease. A cousin recently died of prostate cancer while another battled aggressive breast cancer. The result “opened doors that were previously closed,” she said, including consultations with cancer specialists and insurance coverage for preventative treatments. She had a mastectomy last year to remove cancer-risk breast tissue, and underwent a gynecological procedure this month to reduce her chances of ovarian cancer.
Craig came forward with his results and now his sisters and three of his six children have been tested. Her comprehensive genomic testing of thousands of genes produced other interesting insights into her susceptibility to caffeine and sleep disorders, but mostly she said she felt empowered by knowing her cancer risks.
“It puts you back in control of your health instead of sitting around 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 collect genetic data from 100,000 volunteers. The myGenetics program is designed to alert volunteers about health risks, but also to collect genetic information for further identification of troublesome variants. Out of 40,000 volunteers, tests revealed that more than 600 had hereditary risks of breast, colon or ovarian cancer.
The Mayo Clinic will soon release interim data from a similar project called Tapestry, which is recruiting 100,000 volunteers at its campuses in Minnesota, Arizona and Florida to identify those with one of the 11 variants identified by the CDC . The results will show how many people with these variants would not have qualified for screening under current health and insurance guidelines, said Dr. Jewel Samadder, co-director of precision oncology at the cancer center. from the Mayo Clinic in Arizona.
Mayo will also follow 15,000 of these patients over five years to compare their health and care costs with patients who do not have any of the variants. Screening for breast cancer variants alone used to cost $5,000, but now testing thousands of genes costs about $500 at a time. Samadder said health systems will need to expand to accommodate a new generation of patients who act on this affordable genetic information.
Some studies already estimate the cost is low enough to justify widespread testing, because it will save money by identifying cancers before they require expensive treatments.