Intermountain EHR, IT systems support hereditary cancer testing service

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An in-house laboratory at Intermountain Healthcare is starting to offer genetic testing to patients who have a history of cancer in their family to identify those who have hereditary cancer gene mutations and to determine appropriate treatment options.

Intermountain’s bioinformatics team will work with vendor Fabric Genomics to help generate clinical reports that physicians will review to help counsel patients on the results of the genetic tests, which will be stored in the organization’s Cerner electronic health record system.

Clinicians do not have to leave the Cerner EHR to either order the genetic testing or to see the clinical reports with the results, according to Intermountain executives, who say the data will follow patients throughout their care at the Utah-based healthcare provider.

In addition, some of Intermountain’s genetic counselors will be leveraging telehealth technologies to reach patients located in rural areas that do not typically have access to these kinds of counseling services.

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With as many as 10 percent of breast and 15 percent of ovarian cancers attributable to hereditable mutations, early detection in women is critical. However, fewer than one in five individuals with a history of breast or ovarian cancers meeting select National Cancer Comprehensive Network criteria have undergone genetic testing, according to a recent article in the Journal of Clinical Oncology.

To address the problem, Intermountain contends it is to be the only integrated healthcare system in the country with the capability of testing and providing treatment for all possible gene mutation types at its Precision Genomics Core Laboratory. The lab also offers genomic tests for individuals previously diagnosed with cancer to see if they have other mutations that might predispose them to other cancers.

Amber Guidry, clinical development scientist at Intermountain, has been working on validations for clinical genomics tests that detect the presence of mutations in genes that are passed on from one generation to the next. The hereditary cancer gene panels that are currently being launched will look for inherited mutations with a blood sample, she notes.

“We are running one clinical assay in house, so we are sequencing over 100 genes that are associated with hereditary cancer syndromes,” says Guidry. “We are identifying specific inherited mutations in these 105 genes that are associated with an increased risk.”

According to Guidry, breast and ovarian cancers represent one of the largest patient populations and will be the initial focus of Intermountain’s rollout of the genetic testing.

“These are the mutations that our genetic counselors see most frequently,” she adds. “However, we are also interested in other hereditary cancers. So, built into this clinical assay we will also be able to test for pancreatic, brain, thyroid and several other types of hereditary cancer syndromes.”

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