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Questions About Genetic Mutations: What Should Cancer Patients Ask?


When patients learn they have cancer—especially late-stage cancer—the diagnosis can feel like a gut punch. Most patients stop listening after they even hear the word. Once it starts to sink in, a torrent of questions about the diagnosis and treatment come flooding in.

Most patients who come to Arturo Loaiza-Bonilla, MD, oncologist and assistant professor of clinical medicine at Penn Medicine, may have seen other oncologists and are looking for a second opinion--an expectation that is not lost on him, as their need for hope or answers is even greater.

“Half of my patients come from community oncology practices, and they’ve already had one or two rounds of chemo,” says Dr. Loaiza-Bonilla, who specializes in gastrointestinal cancer.

“Many of them have stage IV cancer and are looking for another treatment. Or, they have a treatment that’s working, but they have some questions or concerns. Or, in some cases, there are patients who have no options, so they are looking for clinical trials,” he adds.

Personalizing Cancer Treatment

To outline possible next steps, Dr. Loaiza-Bonilla offers them a CPD gene panel—a test performed at Penn Medicine’s Center for Personalized Diagnostics (CPD) that looks specifically at the cancerous tumor’s genetic makeup.

Because genetic mutations are pathways for the cancer to develop, the first goal of a gene sequencing panel is to find those mutations.

Why does gene panel sequencing help cancer patients?

“We look for the genetic mutation driving the cancer. If we find a treatment that targets the mutation or its signal pathway, then the cells may stop acting abnormal and the cancer stops developing," says Arturo Loaiza-Bonilla, MD, oncologist and assistant professor of clinical medicine

Most patients have a similar initial reaction to gene panel sequencing. “First, they think it’s the coolest thing ever. They say, ‘Wow, you’re doing genetics on my tumor,’” notes Dr. Loaiza-Bonilla.

Then, comes the flood of questions. Here are the six most common questions patients ask about their late-stage cancer diagnosis and gene panel testing for genetic mutations, plus a few that Dr. Loaiza-Bonilla wishes more patients would ask:

Is insurance going to cover it?

The general answer for Penn Medicine patients is yes.

“We have a good way to negotiate with insurance companies to get tests approved,” Dr. Loaiza-Bonilla says. “Most patients will have a minimal co-pay.”

What if you find more than one mutation?

Gene panel sequencing can test for 47 mutations.

“But of those mutations, not all of them can be targeted,” Dr. Loaiza-Bonilla explains. “If there’s an FDA-approved agent for the mutations, that’s what we’ll do first.”

If they find several mutations that can be targeted, that’s when Dr. Loaiza-Bonilla discusses the patient with Penn Medicine’s Molecular Tumor Board. This is a group of cancer experts who all specialize in different aspects of treatment: Surgery, genetics, clinical trials and pathology.

How do you decide the process for treating my tumor?

Penn Medicine’s Molecular Tumor Board comes together to hash out next steps, especially for patients with very advanced or complex cancer.

“This is a time when we have a lot of minds come together to talk about the case,” Dr. Loaiza-Bonilla notes. “We go through all the medical research, including genomic databases.”

The team also discusses how frequently the mutation is occurring among cancer patients, treatments that have worked, or treatments that are on the horizon through clinical trials.

“Also during that meeting, we have a specific person that goes through all the clinical trials to match those patients,” he explains.

If there is no mutation or targeted treatment for my cancer, can I still be treated?

Yes, all of the traditional treatment courses are still available, including chemotherapy and radiation.

How many agents are you going to use during treatment?

Cancer is very sneaky. Even if one mutation is driving the cancer, it will often find other pathways that allow it to keep developing. That’s why more than one agent may have to be used to fully arrest the cancer’s development.

“Sometimes, you target one pathway, and then the cancer finds an escape pathway. But that escape pathway can also be targeted,” Dr. Loaiza-Bonilla explains. “Sometimes, we have to use more than one agent in combination to target the primary mutation and the escape mutation.”

What’s the expected outcome if you find a treatment for my mutation?

Dr. Loaiza-Bonilla says that curing the cancer isn’t always a realistic aim of targeting a specific genetic mutation.

“In some cases, targeting the mutation doesn’t necessarily mean the cancer may die. It may mean the cancer gets under control as long as the cancer is using the targeted pathway,” he explains. “Then, we can allow the immune system to kick in and help fight the cancer. Or we can incorporate surgery, radiation and other measures to improve that response.”

“The goal,” he adds, “is to keep the patient living longer without any complications.”

If you've recently been diagnosed with cancer one of the most important things to remember is to be proactive about your health. Never be afraid to ask questions about things you don't understand.

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The Focus on Cancer blog discusses a variety of cancer-related topics, including treatment advances, research efforts and clinical trials, nutrition, support groups, survivorship and patient stories.

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