Genetic discoveries are rapidly identifying people at greater risk for cancer 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 disease and automatically alerting their doctors to their need for testing. Screening guidelines have changed three times in the past 18 months, just for breast and ovarian cancer, after researchers identified genetic variants that increase the risk of those diseases, said Dr. Patrick O’Connor, a senior researcher 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 may be right for them.” beneficial to them.”
Using a $3.2 million federal grant announced earlier this week, HealthPartners hopes its alert system will speed up testing, which in turn will speed diagnosis and treatment of illnesses before they become severe. or fatal. The goal is precision medicine — tailoring treatments based on patients’ unique circumstances — but O’Connor said there are plenty of examples in health care now where that approach is being used less.
Research has identified numerous genetic variants that influence the course of type 2 diabetes, for example, but these nuances are not widely used now to tailor treatments, O’Connor said. Antidepressants are dispensed at a common starting dose without regard to known variants that may dictate how well they work, he added.
The HealthPartners study will identify patients at 40 clinics in Minnesota and western Wisconsin who have not followed up on genetic testing results, even though they have one of seven variants associated with high risks of breast, colon or colon cancer. ovaries. Doctors at 20 of those clinics will be prompted by the new alert system to talk to these patients about recommended tests or treatments. Researchers expect these patients to receive more recommended screenings over the next three years than a comparison group of patients at 20 other clinics that are not receiving alerts.
“The difference can be huge”
Genes are chemical threads that program the body’s cells based on hereditary information passed from parents to children. Millions of variations change the way genes work in the body, but a much smaller fraction have been linked through research to date to high 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 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 physicians and patients because of their associations with treatable conditions.
If HealthPartners’ system works, it will be expanded to alert patients to other clinically relevant variants. Some cause only small changes in the risks of the disease, while one known variation can increase the lifetime risk of ovarian cancer from 1% to 70%. Another may identify smokers who have the best chance of reducing their heart attack risks if they quit.
“The difference can be huge 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 last cousin 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 of preventive treatments. She underwent a mastectomy last year to remove breast tissue that posed a cancer risk, and had a gynecological procedure this month to reduce her risk of ovarian cancer.
Craig spread the word about 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 caffeine sensitivity and sleep disturbances, but mostly she said she felt empowered by the knowledge of her cancer risks.
“It puts you back in control of your health instead of sitting back and wondering what, if or when,” Craig said.
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More genetic tests
Craig received free testing through HealthPartners’ partnership with Helix Inc. based in California to collect genetic data from 100,000 volunteers. The myGenetics program is designed to alert volunteers to health risks, but also to collect genetic information for further identification of variants of concern. Of 40,000 volunteers, the test found more than 600 with inherited risks for 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 from its campuses in Minnesota, Arizona and Florida to identify those with any of the 11 variants identified by the CDC. The results will show how many people with these variants would not have been eligible 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 will also follow 15,000 of these patients over five years to compare their health and health care costs with patients who do not have either variant. Screening for breast cancer variants alone used to cost $5,000, but now tests for thousands of genes at once cost about $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 expensive treatments.
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