Molecular Testing

Introduction to Molecular Testing & Targeted Therapy

After decades with shamefully little progress in lung cancer treatment, researchers are finally making scientific breakthroughs that promise more effective and less toxic cancer treatment. Strange as it may sound, there has never been a better time to be diagnosed with lung cancer than right now, because of ground-breaking new treatments that promise more hope and improved survival. Even so, researchers have only tapped into the tip of the iceberg. In some ways, it seems like the science is moving at lightning speed. Breakthrough treatments could come tomorrow…or even today. In the meantime, however, many lung cancer patients are suffering. There could be an effective treatment for them right now, but today’s breakthroughs can only help them if find out about them—TODAY. We know about a limited number of targeted therapies for lung cancer, but comprehensive testing may offer more potential for the patient and to help researchers develop new targeted therapies.

Is molecular testing right for you? Is targeted therapy right for you?

Below is an article written by a patient who credits targeted therapy with saving her life. More specifically, she credits a fellow lung cancer survivor who shared his knowledge and experience about targeted therapy.

Understanding Precision Medicine

By Janet Freeman-Daily
In early 2011, I had a nagging cough. To make my husband happy, I went to see my doctor. After two rounds of antibiotics and weeks of diagnostic procedures, I was diagnosed with non-small cell lung cancer in May of 2011.

I had chemo and radiation, which shrunk the tumors in my left lung and chest. However, cancerous lymph nodes popped up near my collarbone two months later. My cancer was spreading despite treatment. In about 3 months, I grew a three-inch tumor on my collarbone.

Fortunately, my online support group had told me about molecular testing to examine tumor tissue for abnormal genes. When cells make copies of themselves to replace old cells, they can make errors in copying cellular DNA and create abnormal genes. Often these abnormal genes cause no problems. However, some abnormal genes can drive normal cells to become cancer cells. These abnormal genes are called driver mutations. Molecular and genomic testing look at the molecules of DNA from cancer tumor cells to determine if known driver mutations are present.

I submitted some of my biopsied tissue for molecular testing at the University of Colorado in November 2012, but my tumor had none of the then-known lung cancer driver mutations. So I had more chemo followed by more radiation to kill the collarbone tumor. A PET scan two months later showed all my previous tumors were gone or dead. However, I had two new tumors in my right lung. I now had metastatic lung cancer. Whenever I stopped treatment, I had a new tumor within two months. My oncologist told me I would be on chemo for the rest of my life.

Another lung cancer patient in my online support group told me I fit the typical profile of patients who had a newly-discovered driver mutation called ROS1. The patient shared information about a clinical trial that used a targeted therapy to treat patients whose tumors had ROS1. Targeted therapies are drugs that bind specifically to molecules created by the abnormal driver mutation genes and suppress the cancer-like behavior in the cell. You may have heard the term Precision Medicine—it uses targeted therapies to treat a patient’s cancer based on specific characteristics of their individual cancer, like cell type and driver mutations.

I contacted University of Colorado again, and learned they had recently developed a ROS1 molecular test. They also had some of my tumor tissue slides remaining from previous testing. I gave them permission to test my remaining slides, and was thrilled to learn I was a mutant: my tumor tested positive for the ROS1 driving mutation!

I enrolled in the ROS1 clinical trial at University of Colorado (the nearest location to my home in Seattle) in November 2012. As of August 2015, I have had No Evidence of Disease since January 2013.

My cancer is not cured; most all patients who take a targeted therapy find their cancer eventually develops resistance to the drug. However, new targeted-therapy drugs are being approved every year. Patients on targeted drugs for EGFR, ALK, ROS1, and some other driver mutations are able to change to a different targeted therapy or clinical trial when their cancer progresses. I know a metastatic lung cancer patient who has survived more than 10 years by participating in a series of clinical trials and occasional chemo.

Thanks to precision medicine, some lung cancers can be managed as chronic diseases instead of terminal illnesses. Learn about molecular and genomic testing for lung cancer. It may add years to your life.

Molecular Testing Resources

Below is a link to a brief video that explains the basic concept of targeted therapy. The video, which is less than 4 minutes, was created by Foundation Medicine as a public service for patients.

Below are several additional links from other leading organizations with more information about molecular tumor testing:

Do you really want to help? If so, we really need you.