New registry may better ID women at risk for breast cancer

Software vendor Medneon has gone live with a registry that is designed to help women with a high risk of having breast cancer, and their doctor, to manage genetic mutations over time.

The hope is that using the registry will provide some assistance in preventing hereditary breast cancer.

The Informed Genetic Annotated Patient Registry, or iGAP also is appropriate for currently unaffected family members. Medneon unveiled iGAP at the American Society of Breast Surgeons during its recent annual conference.

iGAP is an institutional review board-approved database to capture information regarding breast cancer risk assessments, genetic testing utilization, and the impact of genetic information on treatment practices and outcomes. Researchers hope to enroll 10,000 women this year, and over time the registry, which already has 3,000 women, will expand to include other conditions with hereditary associations.

Also See: MGH, MIT researchers create AI tool that predicts risk of breast cancer

Nearly 40 million women in the United States undergo breast cancer screening annually; however, many of them have not received genetic testing, which could identify risk factors. The testing isn’t done, in part, because the women do not meet the criteria of current testing guidelines or lack insurance coverage for tests. About 330,000 women in the nation annually are diagnosed with breast cancer.

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In a study by Peter Beitsch, MD, published in the Journal of Clinical Oncology, Beitsch and Rakesh Patel, MD, an oncologist and co-principal investigator, found that nearly half of breast cancer patients with a genetic mutation are being missed by current testing guidelines.

Parents pass half of their genetic components down to their children, Beitsch notes. And if parents have genes that could cause cancer, that risk remains with the children.

The easiest way to identify additional high-risk women is testing of their unaffected relatives, Patel explains. “We want to see if this will provide actionable insights that could prevent the disease altogether, or at least enable detection at much earlier stages.”

What’s needed now is more education for physicians on the need for genetic testing, Beitsch contends. “Doctors need to know who their high-risk breast cancer patients are and where they can refer patients to a study focused on high risk. The best way to cure cancer is to never get one.”

Using an institutional review board approved research process to collect data can give physicians insights on tracking patients and families over time, Beitsch counsels.

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