Study will offer genetic cancer tests at primary-care level

The National Cancer Institute will fund research of how screenings in that environment affect patient outcomes and health systems’ resources. 

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It may sound odd, but most tests for hereditary cancer risks are prescribed by doctors after the patient has been diagnosed with cancer – past the time when such information would be prospectively most useful to the patient.

With that backdrop, UW Medicine researchers will explore the feasibility and benefits of administering genetic cancer-risk screenings in the primary-care setting, enabling patients with positive findings to pursue follow-up care sooner.

The National Cancer Institute has committed $3.5 million to support the five-year project, led by Deborah J. Bowen, a professor of bioethics and humanities at the University of Washington School of Medicine.

picture of Deborah Bowen
Deborah Bowen will lead newly funded research of primary care-based genetic tests for cancer.

“Realizing the true preventive potential of cancer-susceptibility testing requires testing individuals before a diagnosis,” Bowen said. “Genetics testing has been a cancer-guideline concept for about 15 years, yet the rates of genetic testing in the general population are really low, and we don’t fundamentally understand why.”

The project aligns with the U.S. Precision Medicine Initiative to personalize doctors’ treatment decisions of patients’ illnesses beyond the convention of “disease X equals treatment Y.” If genetic cancer screening in primary care was found to be viable, it could improve outcomes for the 1.7 million Americans diagnosed with cancer annually – even as it increases that volume of patients.

However, formidable barriers exist to genetic testing in the primary-care setting: These clinicians generally lack knowledge about genetic screenings, their potential preventative benefits, and how to appropriately refer patients whose hereditary cancer risk is found to be high. Another weighty consideration is primary caregivers’ lack of time in work weeks that often exceed 40 hours already.

“Part of what we want to do with this project is to better understand the magnitude of those obstacles, and also whether either of our approaches identifies reasonable work-arounds,” Bowen said.

The study will involve 12 clinics spanning three health systems:

  • MultiCare Health System, based in Tacoma, Washington
  • Billings Health Care System, based in Billings, Montana
  • Idaho State University/Health West based in Pocatello

At the 12 selected clinics, all patients ages 25 to 65 will be randomized to receive an invitation either in-clinic or by mail (USPS and email) to take part in a questionnaire about personal and family history of cancer.

illustration of clinical trial arms
The study will have two patient cohorts: those contacted by U.S. Mail and email, and those contacted while in clinic.

“We know that only a fraction of patients come every year or two for checkups,” Bowen said. “The direct-to-consumer (mail) model is intended to reach people who don’t have regular clinic visits.”

Across both of those models, the patients whose histories indicate high cancer risk will receive a follow-up communication – again, by way of a personal, in-clinic meeting or by mail – and an invitation to take a saliva-based panel test. The test, manufactured by Color Genomics, screens 30 genes indicating susceptibility to colon, breast, ovary, pancreas, melanoma, stomach and prostate cancer.

About a month later, patients will receive test results – electronically, if they’re negative, and via genetic counselors if the results are positive.  Patients’ insurance carriers will be billed for the testing, Bowen added, and any amount not covered will be paid for by the study.

Bowen hopes to enroll and follow at least 360 patients through the testing process and their clinical aftermaths.

At its core, the research is about finding cancer earlier and improving the outcomes of those patients. While more positive screenings would seemingly result in more patients undergoing cancer treatment, more cancers also would be identified earlier and treated more successfully, prospectively lowering utilization of hospital care. The project will evaluate the extent to which either of those hypotheses is realized. 

“Right now we don’t have a mechanism to screen patients for family history in the primary-care setting,” Bowen said. “When someone completes a family-history form, it often goes in a desk and is never accessed by that patient’s primary-care doc. We need a way to un-bury that history and make it clinically actionable. We need to know who is eligible for these screenings.”

The National Cancer Institute (1U01CA232795-01A1) is funding the research.

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