Broad genetic testing for advanced lung cancer may not improve survival

August 8, 2018 by Ziba Kashef, Yale University

Testing for dozens of genetic mutations in tumors of patients with a common form of advanced lung cancer did not appear to improve survival compared to routine genetic testing, a study led by Yale Cancer Center (YCC) scientists has found. The research was published in JAMA.

Broad-based genomic sequencing (BGS) evaluates numerous genes to identify mutations in tumors of patients with advanced non-small cell lung cancer. If a mutation is found and a drug exists to target the mutation, BGS can help clinicians personalize and treat the disease. However, questions remain about how broad-based testing, which can be costly, compares to more routine testing that focuses on one or two established, treatable genetic mutations.

Researchers analyzed data from Flatiron Health of more than 5,000 patients with advanced non-small cell lung cancer that were treated in a community oncology clinic. The researchers identified patients who received either BGS testing, or routine testing for alterations in two specific genes, EGFR or ALK. They determined how frequently the BGS testing identified specific mutations that guided the choice of therapy and compared overall for the patients receiving BGS with those receiving routine testing.

The research team found that among patients who received broad-based testing, very few also received a targeted treatment as a result. "The broad-based testing only identified and informed treatment decisions a small proportion of the time, and it's not clear whether the treatments that were provided on the basis of these mutations actually lead to better outcomes," said Cary Gross, M.D., director of Yale's Cancer Outcomes, Public Policy and Effectiveness Research Center (COPPER), professor of medicine, Yale School of Medicine and senior author.

Compared to patients who received routine tests, the BGS group did not have improved survival in the short or long term. "These results could be due to limited targeted therapies at the time period the study was conducted, lack of clinical trial access, cost of new cancer drugs, or insurance denials of off-label drug use," adds lead author Carolyn J. Presley, M.D., who was part of the study team at Yale, but now serves as a medical oncologist and assistant professor at The Ohio State University. "Our ability to sequence has outpaced our ability to get targeted therapies to patients."

The study also shows while BGS testing is covered by Medicare, the costs of such testing can run thousands of dollars. Even when mutations are identified, there may not be an approved drug available to target them, the researchers said.

However, the study authors note that drug availability and targeting is changing and testing can still have an important role. "Our study shows so many issues that exist with testing, but over the past decade, with science moving so quickly, therapies for patients with advanced non-small cell have improved substantially," adds co-author Roy S. Herbst, M.D., chief of Medical Oncology at YCC and Smilow Cancer Hospital. "With more approved availability of new drugs at community sites and clinical trials available at medical institutions like YCC and YCC care centers throughout Connecticut, we are now better able to match more patients with the right drugs and have better outcomes. I hope and expect when this study is repeated in a few years we will see improved outcomes and we now have a baseline from which to build.

Gross adds, "To ensure that new discoveries are able to fulfill their promise, our results suggest further evidence is needed to inform the care of patients with a variety of specific genetic alterations in their tumors before widely disseminating these new paradigms into clinical practice."

Explore further: Team discovers gene mutations linked to pancreatic cancer

More information: Carolyn J. Presley et al. Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non–Small Cell Lung Cancer in the Community Oncology Setting, JAMA (2018). DOI: 10.1001/jama.2018.9824

Related Stories

Team discovers gene mutations linked to pancreatic cancer

June 19, 2018
Six genes contain mutations that may be passed down in families, substantially increasing a person's risk for pancreatic cancer. That's according to Mayo Clinic research published in the June 19 edition of the JAMA. However, ...

Targeted cancer treatments far outperform traditional methods

June 3, 2018
Cancer treatments that attack tumors based on their individual genetic traits—not their location in the body—far outperform traditional methods, extending survival for twice as many patients, a study said Saturday.

Routine genomic testing is feasible, but only a subset of patients benefit

June 5, 2017
Genomic testing of tumor samples can enable personalized treatment selection, where targeted treatments are matched to genetic changes in the tumor. Although a growing number of patients with advanced cancers receive some ...

Testing for mutations identified in squamous cell lung cancer tumors helps personalize treatment

May 17, 2012
Screening lung cancer tumor samples for cancer-causing, or "driver," genetic mutations can help physicians tailor patients' treatments to target those specific mutations. While scientists have identified cancer-causing mutations ...

Upfront, comprehensive genetic testing in advanced lung cancer is cost-effective

May 17, 2018
An economic model comparing different types of genetic testing in metastatic non-small-cell lung cancer (NSCLC) found that using next-generation sequencing (NGS) to test for all known lung cancer-related gene changes at the ...

Even smokers may benefit from targeted lung cancer treatments

December 13, 2017
Smokers are less likely than non-smokers to have lung cancers caused by targetable genetic changes. But a study published this week in the journal Clinical Cancer Research shows that when they do, smokers benefit just as ...

Recommended for you

Week 34 of pregnancy reduces breast cancer risk: study

October 23, 2018
Women's bodies undergo a "striking" change during a specific week of pregnancy that can significantly reduce their risk of developing breast cancer later in life, scientists said Tuesday.

New kind of compound shows early promise against prostate cancer

October 23, 2018
A new type of molecule blocks the action of genes that drive the growth of therapy-resistant prostate cancer, a new study finds.

New combination treatment flips the switch on melanoma cells

October 23, 2018
Think of the protein BH3 like a finger that turns off a cancer cell survival switch. The problem is that most cancer cells have found ways to remove this "finger—commonly, by breaking the action of a gene called p53 that ...

Desperate & duped? GoFundMe means big bucks for dubious care

October 23, 2018
People seeking dubious, potentially harmful treatment for cancer and other ailments raised nearly $7 million over two years from crowdfunding sites, a study found.

Marker found for condition that causes numerous tumors

October 23, 2018
UT Southwestern researchers have made a major advance in uncovering the biology of how thousands of disfiguring skin tumors occur in patients troubled by a genetic disorder called neurofibromatosis type 1 (NF1). This scientific ...

Urban and rural rates of childhood cancer survival the same, study finds

October 23, 2018
Childhood and adolescent cancer survival in the United States does not vary by rural/urban residence at the time of diagnosis, finds a new study from the Brown School at Washington University in St. Louis.


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.