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UMich Online Tool Aims to Improve Identification of Patients With Hereditary Cancer Risk

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NEW YORK – Inherited genetic mutations can cause around 5 to 10 percent of cancers. If individuals know they're predisposed to certain cancers because they have these mutations, they can take appropriate preventive actions to reduce their risk.

Patients with a strong family history of certain cancers should be offered testing for these genetic risk mutations, but past surveys have found that at-risk individuals are often missed due to incomplete or unavailable family health history records. An online application called the InheRET Risk Evaluation Tool, developed at the University of Michigan by a group of experts in laboratory testing, genetics, and informatics, seeks to make it easier to collect accurate family health history from individuals and determine whether they meet current guidelines for further cancer risk evaluation. The experts launched a company, also called InheRET, to market the tool.

The tool is designed to collect three generations of family health history. The algorithm is built around current National Comprehensive Cancer Network guidelines and other best practice guidelines. After patients input their family health history information, the algorithm will evaluate the provided data against current guidelines, pinpoint any red flags, and put forth next-step recommendations. Both patients and providers can access educational resources through the InheRET online library.

"What comes out of InheRET is the full family picture, the pedigree plus what is recommended by the guideline. And every time the guidelines change, we reprogram the tool so that people will get the correct information, so it's not obsolete," said Sofia Merajver, director of the Breast and Ovarian Cancer Risk Evaluation Program at the University of Michigan and a developer of InheRET.

She explained that before she and her colleagues created the online tool for use within their practices, they were seeing fewer than 5 percent of patients with a complete family history that would allow them to apply NCCN guidelines. With the aid of the online application, a much higher proportion of patients, around 70 percent, are providing complete family health history, she said.

Family health history can be key to understanding if a person should undergo genetic testing or be referred for further counseling. Without it, "we are missing an opportunity for early detection of cancer for prevention," Merajver said.

"Based on data from the state of Michigan, about 90 percent of patients who are at increased [cancer] risk were not being identified and referred to genetics," estimated Amanda Cook, who developed the software underlying InheRET while at the University of Michigan.

Cook said she and her colleagues set out to create InheRET after interviewing patients and providers to learn what was preventing the identification of patients at increased risk of cancer based on their family health history. Through these interviews they learned that traditional paper-based methods of collecting family health history didn't provide patients enough time to gather this data accurately, and then, inputting this information into the patient record was time consuming for providers.

They designed InheRET to avoid these pitfalls and tested out the tool's performance in a 686-patient pilot study at three clinics within the University of Michigan Health System: Dexter Family Medicine, University Health Services, and the Breast and Ovarian Cancer Risk Evaluation Clinic. In total, 87 percent of patients completed their family health history through the InheRET online data collection portal. Cook and others involved in the development of the tool reported the preliminary findings of the study in March in an abstract in the Journal of the National Comprehensive Cancer Network. A full study will be published in the journal later this year. 

Overall, 47.5 percent of participating primary care patients and 81.1 percent of participating cancer genetics patients were found to be at increased cancer risk using inheRET. Among 138 primary care patients, 44 met NCCN genetics referral criteria but had not been previously identified by their healthcare providers as being at increased risk.

A review of the tool's performance and the data collected by genetic counselors found that all of InheRET's referral recommendations were accurate, and the data provided by the patients within the portal appeared to be more complete than the information submitted previously through paper forms.

In a survey, healthcare providers said they found InheRET to be useful. They indicated that the tool didn't usurp extra clinic time, and 100 percent of surveyed providers said they would continue to use the tool outside of the pilot.

Patients can also access InheRET with an annual subscription of $30. Healthcare providers can refer patients to InheRET through invitation cards. In the pilot study, a clinic also used the InheRET dashboard, where clinic coordinators and providers can invite multiple patients through e-mail. InheRET assigns a unique hyperlink for each provider in each clinic to ensure the patient's record is tied to the appropriate office.

Once patients are online, the form takes them step-by-step through the questions from basic information, such as date of birth and ethnicity, to biopsy history and smoking and alcohol use. The 'build family' section is where patients enter their relatives' health details, including their history of cancer and rare conditions. The form saves the information as patients fill out the details, allowing them to log out if they need to or take time to confirm details with family members.

Merajver said that questionnaires that are usually filled out on paper by patients at their doctor's office ask one or two questions, and not a lot happens to that information after the appointment.

"We found that people just put down whatever they recognize. A lot of the precision of precision medicine relies on the precision of the information we get from the patient to begin with," she said. "And the ability to start and stop and save your work, call relatives and get pathology reports or whatever other information over a period of time, we found that that's very useful." 

The team first had a smaller test run of the tool and had to modify several elements of InheRET to accommodate the needs of diverse populations.

"We brought the language level down to a fourth-grade reading level and that brought our numbers up dramatically," said Cook. "We went from about a 60 percent easy to use, easy to understand [rating in experience surveys] to an 87 percent [to] 90 percent easy to understand [rating]."

Merajver anticipates InheRET will be particularly useful in the primary care setting, where family history data is rarely collected in full. In one primary care clinic where InheRET was deployed, between 60 percent and 70 percent of patients returned an extensive family history, and about 20 percent of them qualified for a referral, which lined up with the what Merajver would expect based on the criteria in guidelines.

Currently, there isn't data on how many patients referred by InheRET for testing actually get tested because the tool does not follow patients beyond the genetics referral.  

"We are now revising our tool to become more involved in that," noted Merajver, "because the new guidelines suggest not just referral, but specific genetic tests that doctors can order." The tool will include links to different types of tests that can be ordered based on the patients' health history and family data, as well as allow access to listservs of genetic counselors and genetics clinics in the area.

Merajver will also be enhancing patient and physician educational resources available through the tool. For example, if it turns out that based on the information entered, a patient needs a test that specifically covers kidney cancer risk genes, then InheRET will provide links to educational material related to kidney cancer detection and to the relevant genes.

Moreover, pre-development interviews of clinicians across Michigan revealed that most of them wanted easy-to-digest and specific genetic information as patients came through their clinics, which would save them from having to parse through current literature on the thousands of cancer genes that have been reported on. A new version of the tool with these revisions will be rolled out in the next couple of months, according to Merajver.

InheRET is compliant with the Health Insurance Portability and Accountability Act and can be integrated into Epic electronic medical records, which is the vendor for the University of Michigan. However, Merajver thinks the software can be easily customized to fit other electronic medical record systems.  

The company is marketing the tool with cancer advocacy groups and is interested in working with other healthcare clinics to integrate InheRET into their systems. Merajver thinks that InheRET may also be useful for research projects that require participants to provide detailed health, lifestyle, and family history information.

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