'Most people that should be getting the test are not'

Genetic cancer tests have been around for years, but they've recently gotten significantly cheaper, more detailed, and easier to get covered by insurance.

"It's a much more reasonable price," said Tara Biagi, a genetic counselor with MedStar Georgetown University Hospital.

According to Biagi, the out-of-pocket cost for someone without insurance for a test is around $250, "rather than $4,000, which is what it used to be." For those with insurance, they may pay nothing or just a copay.

Regardless, "most people that should be getting the test are not," said Tuya Pal, a clinical geneticist at Vanderbilt University Medical Center.

According to Allison Kurian, a cancer physician at Stanford University, researchers estimate that around 5% of people in the United States have one of the known genetic mutations that could significantly increase their risk for cancer.

In a study conducted by Kurian and colleagues that looked at over a million people diagnosed with cancer in Georgia and California, just 6.8% had gotten tested for inheritable genetic variants linked to cancer.

Current expert guidelines recommend providers offer genetic testing to everyone with ovarian, pancreatic, metastatic prostate, and male breast cancer. But Kurian's study found that less than half of ovarian cancer patients received testing, and people with other cancers were even less likely to get it.

Another study looked at how many cases of hereditary cancer syndromes would be found if genetic testing was performed on every cancer patient. Researchers tested almost 3,000 patients with various kinds of tumors, regardless of age or family history.

"Nearly 1 in 8 patients had a cancer predisposition gene," said Jewel Samadder, from the Mayo Clinic, who is an author on the study.

Not only could the test alert family members they might be at risk, but knowing the information frequently helped people choose the best way to treat their cancer, Samadder said.

A lack of awareness from providers

Many experts say cancer doctors often aren't familiar with the latest research on inherited cancer risk or don't know that the cost of genetic testing has dropped.

"That is not a problem in the major cancer centers. But most people get treated at a smaller or regional center, and those doctors are not up on this or aware of it," said David Dessert, a long-term survivor of pancreatic cancer.

According to Sapna Syngal, from the Dana-Farber Cancer Institute, the number of gastroenterologists considering genetic testing or getting a complete family history of colon or pancreatic cancer "is far below what it should be. The awareness still is very low."

Many patients also don't know to ask their doctor for the genetic testing, and many more may not even realize they have a family history of cancer, as past generations often kept the disease secret.

"You didn't want to talk about cancer in the family. You didn't even want to mention the 'C-word,'" said Susan Klugman, president of the American College of Medical Genetics and Genomics. "So therefore their descendants may not know: Did they have ovarian? Did they have cervical cancer?"

There's also the issue that many people, including some providers, might not understand that hereditary cancer syndromes can impact multiple organs.

Klugman noted she recently saw a patient who had uterine cancer a few decades back and now has rectal cancer.

"If someone who had seen her, even her internist, said, 'Hey, you had uterine cancer at age 49. You should see genetics. You should get testing,' we might have caught that rectal cancer a lot sooner," Klugman said.

How 2 organizations are tackling genetic cancer screenings

Several organizations have implemented innovative strategies in an effort to increase cancer screenings.

Adventist Health, for example, developed the Adventist Health Early All-Around Detection (AHEAD) Program to provide education, technology infrastructure, and centralized navigation services to local healthcare providers, empowering them to integrate genetic testing and risk-based screenings into the primary care workflow.

The AHEAD Program has screened over 44,000 patients and ordered over 5,000 tests, leading to a 25% increase in breast cancer screening rates and a 290% increase in colon cancer screening rates.

Meanwhile, Dana-Farber Cancer Institute implemented the OPT-IN study — a randomized clinical trial looking at the use of two different genetic testing education delivery models to serve as alternatives to standard genetic counseling — in order to see if new genetic testing education delivery models could reduce the appointment burden of cancer patients.

Both models tested a Chatbot that spoke with patients through text messages, embedded graphics, and video content alongside a short educational video.

The study had 134 metastatic breast cancer and ovarian cancer patient participants, 120 of whom elected to complete genetic testing. Of those, 22 found they had an inherited genetic mutation, seven of whom had the BRCA1 and BRCA2 mutations with potential implications for treatment.

Among participants in both models, 80% said they were either satisfied or strongly satisfied with the quality of their genetics education and 86% said they'd recommend the process to a friend or relative. (Greenfieldboyce, "Shots," NPR, 8/2)

Biomarker testing in oncology is an important tool in a health system’s precision medicine efforts. However, the process is complicated. With various internal and external stakeholders involved, many obstacles can appear. Use this infographic to follow the patient journey, understand the steps in the biomarker testing process, identify where challenges can arise, and evaluate how difficult it will be to overcome common barriers to biomarker testing success.