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Delayed Testing, Limited Patient Understanding May Hinder Precision Oncology Access, Survey Suggests


NEW YORK (GenomeWeb) – A new survey suggests that cancer patients may not be getting genetic testing in time to make use of the results in informing their care.

The survey conducted by diagnostics data analytics firm Diaceutics and released to coincide with World Cancer Day also revealed that cancer patients, who tend to be some of the most motivated to educate themselves about the latest research and treatment advances, may have limited knowledge of precision medicine and find it difficult to understand genetic test results.

Diaceutics' survey is small, involving 60 surveyed patients (half from the US and half from the UK) but corroborate the findings of other market evaluations that suggest gaps in testing and limited understanding of its importance may be hindering patient access to precision medicine approaches. 

The participants were enrolled in equal numbers from the US and UK, ranged from 19 to 89 years old, had a cancer diagnosis in the past three years, and were asked to recall details about their diagnosis and treatment.

When asked about genetic testing,  assessment of BRCA1 and BRCA2 was the most commonly reported, with more than 60 percent and 50 percent of participants respectively indicating they got evaluated for mutations in these genes. Around 45 percent said they were evaluated for HER2 overexpression, more than 20 percent said they were tested for PD-L1 overexpression, or for ALK and BRAF mutations, while fewer than 20 percent recalled being tested for EGFR mutations.

The majority of the survey participants had breast cancer, so patients recalled most often biomarkers that are important to that disease, such as BRCA1/2 mutations and HER2 overexpression. PD-L1 expression analysis to guide immunotherapy strategies are important for a variety of tumor types, ALK and EGFR mutations are biomarkers included in testing guidelines non-small cell lung cancer patients, and BRAF mutations are important for personalizing melanoma treatment. Close to 60 percent said the results of the tests impacted their treatment options, while 39 percent said the results didn't matter.

The survey also tried to approximate when patients receive these tests in the care continuum because timing can hinder the ability to apply the knowledge to personalize their care. When asked, 28 percent said they received testing right at diagnosis and 39 percent said they received testing a few weeks after diagnosis, but 14 percent and 8 percent said they received testing months after diagnosis or upon relapse, respectively.

The data suggested that some patients may be missing out of precision oncology approaches because of delayed testing. "One of the hurdles we frequently see when evaluating the testing landscape is that the test may not even be requested," said Steve Vitale, managing director of marketing at Diaceutics.

One of the limitations of studies evaluating the utility of molecularly informed personalized treatment has been that results are often available too late to make a difference for advanced, heavily pretreated cancer patients. Another Diaceutics analysis found that suboptimal testing approaches for cancer-linked biomarkers, including delays in testing, may be keeping as many as 156,000 cancer patients per year from receiving personalized, targeted treatments in the US and Europe. 

The latest survey provides more data indicating that testing approaches aren't capturing all the patients who are candidates for targeted drugs, Vitale said.

The survey also showed educational gaps among cancer patients. A 1,000-participant survey that GenomeWeb did with the Personalized Medicine Coalition last year showed very limited awareness of personalized medicine in the general public. 

Vitale noted that the expectation is that cancer patients would be much more aware of precision medicine than the general public, particularly since most of the advances in the field to date have been in oncology. However, the survey suggested that they may not know about precision medicine or have difficulty understanding genetic test results.

For example, nearly all participants were familiar with the term "biopsy," while around 80 percent said they had heard the term "genetic mutation," 70 percent indicated they knew the term "biomarker," and nearly 50 percent said they knew the terms "personalized medicine" or "precision medicine." And when asked which type of information was the most difficult to understand, 63 percent of patients mentioned biomarkers or genetic testing, though they found their diagnosis, treatments, risk factors, and drug side effects easier to comprehend. Around 70 percent said they'd like to understand biomarkers and test results much better than they do.

Data previously collected by Diaceutics suggested that when drug and test makers invest in ensuring that tests for diagnosis, monitoring, and guiding treatment are available broadly to patients, it results in cost savings and better patient outcomes. "This is an area where there may be life altering results available," Vitale said, but noted that doctors may not think to test patients for rare biomarkers, like NTRK fusions.

When patients do have such fusions, they may be eligible to receive Loxo Oncology's Vitrakvi (larotectinib), regardless of the type of cancer they have. But doctors may be challenged to figure out which test to order, particularly since the US Food and Drug Administration didn't approve this drug with a companion diagnostic. 

Recognizing this knowledge gap, Diaceutics has partnered with the Union for International Cancer Control to raise patients' awareness of precision medicine and the importance of early diagnostic testing, so they can better advocate for themselves. Diaceutics also works with pharmaceutical partners to establish standardized testing within lab networks around the world to ensure more patients are getting access to personalized treatment approaches.

"In order to effectively empower patients, we need to ensure they are speaking the same language as their physicians," Diaceutics CEO Peter Keeling said in a statement. "That is something that we will work with the whole cancer community to address."