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Understanding Personalized Medicine and Genetics in Cancer: Why This Matters to Patients

August 2022 Vol 8 No 4

The terms “personalized medicine” (or precision medicine) and “targeted therapy” are now used often by oncologists, but understanding these concepts can be challenging for many patients and caregivers who are dealing with a cancer diagnosis.

Rafael Santana-Davila, MD

At the 2022 Summit on Cancer Health Disparities, Rafael Santana-Davila, MD, and Marianne Dubard-Gault, MD, MS, from the Seattle Cancer Care Alliance in Washington State, explained the challenges related to personalized medicine, and why these challenges should matter to patients.

In cancer, personalized medicine uses information about genes and other biologic markers (or biomarkers) related to a person’s tumor to help make an accurate diagnosis and decide on the best treatment for that specific patient.

Targeted Therapy

Targeted therapy or targeted drugs refers to drugs that “target” a specific gene, protein, and other biomarkers that control the way cancer cells grow, divide, and spread. Targeted therapy is considered the cornerstone of personalized medicine.

“For targeted therapy to be effective, we first need a target,” explained Dr. Santana-Davila.

He focused his discussion on non–small-cell lung cancer (or NSCLC), the most common type of lung cancer. In NSCLC, these targets are most often gene mutations (alterations), such as EGFR, ALK, ROS1, BRAF, NTRK, HER2, RET, and MET.

To determine which of these specific mutations or biomarkers are contributing to cancer growth and survival, doctors order a molecular analysis, also known as molecular profiling, of the patient. If a patient with lung cancer has an EGFR mutation, for example, then drugs that target, or block, the EGFR gene will be the best treatment for that patient to try and to stop or slow down the growth of the tumor.

The Challenges

One of the problems with finding these biomarkers in a patient, however, is the need to collect tissue from the tumor. Obtaining enough of a tissue sample that can be used for molecular (or biomarker) analysis can take several days or even weeks, which may delay the start of treatment with targeted therapy.

In other words, if doctors have to wait on identifying the target, that means that they have to hold off on deciding which treatment may be best for the patient.

And “if patients are waiting for these results without initiating therapy, they can get progressively worse,” Dr. Santana-Davila said. Starting therapy as early as possible is crucial when it comes to cancer to stop the cancer from progressing to a more advanced stage, when cure is more difficult or no longer possible.

Another challenge is that many doctors simply don’t offer their patients molecular testing. Although the current standard of care in the United States dictates that all patients should be offered broad molecular testing, studies show that about one-quarter (or 25%) of patients with metastatic NSCLC (lung cancer that had spread outside of the lungs) did not have a molecular analysis before their first treatment. This means that many of them did not get the best treatment available.

Another important factor standing in the way of using targeted therapies is cost. Targeted drugs are usually what is called “biologics,” which are very costly drugs. For example, the cost of the oral drug Alecensa (alectinib), a targeted drug that blocks the ALK mutation, costs more than $17,000 a month.

“Nobody can afford that,” Dr. Santana-Davila emphasized. “Unfortunately, we’re not doing much about it in the United States, but something needs to change.”

When patients can’t afford their treatment, they are less likely to use the treatment as prescribed. And we know that not taking the treatment as prescribed results in poor survival for the patient.

In addition, although targeted therapies may be very effective for some time, the tumor usually eventually becomes resistant to the targeted drug, or the patient is unable to tolerate the drug after some time. “This will work, until it doesn’t, and then it’s time for chemo,” Dr. Santana-Davila said.

Researchers are hopeful that further research could change this reality for patients. “But we’re not there yet,” he added. In addition, in some cases, although not all, there is more than one targeted drug for the same type of cancer.

Be Your Own Advocate

Because of the challenges regarding molecular testing, and because many doctors and cancer clinics don’t always offer molecular testing, Dr. Santana-Davila emphasized the importance of patients acting as their own advocates!

Patients should ask their doctors about molecular testing at the time of their diagnosis, especially those diagnosed with lung cancer, breast cancer, colorectal cancer, or melanoma, but also with other types of cancer. Although not all cancers have so far been linked to specific biomarkers, many cancers have.

Although these conversations can be time-consuming, and patients may often not feel comfortable asking their doctors for those tests, these discussions are very important, he said. They ensure that the patient will receive the best treatment available at the time.

New biomarkers and genetic mutations are constantly being found in different types of cancer, and new drugs are being developed to target many of those mutations. So asking questions is necessary to ensure you get the best treatment available.

Marianne Dubard-Gault, MD, MS

Genetic Mutations and Cancer

Dr. Dubard-Gault compared personalized medicine in cancer to a mountain we need to climb. “When you get all the way to the top, you see how beautiful it is when you have the right medication for the right patient at the right time,” she said.

But finding the right medication for the right patient at the right time requires combining personalized medicine with a person’s inherited cancer predisposition, meaning, how likely a person is to have a certain type of cancer, based on one’s genetics, Dr. Dubard-Gault said.

About 1 in 8 patients with any type of cancer has a hereditary gene mutation. These mutations are inherited and passed down within families, as in the case of the BRCA gene in breast cancer. Having the mutation significantly increases the person’s risk of cancer.

Inherited mutations (which are also called “germline mutations”) are present from birth and can be found in any cancer type.

“So it’s not just bad luck,” she said. “Some people are simply more predisposed to having cancer.”

Identifying hereditary mutations is crucial for patients who already have cancer, so that their doctors know what treatment will be best. It is also important for other family members—siblings, cousins, and children—to know if they have those mutations, because they may be at risk for the same cancer.

When dealing with information that can significantly affect generations of people, patients should not be shy about asking their doctors for genetic testing and counseling services. In fact, it is necessary that patients or their caregivers insist on getting answers for those questions.

Remember that although having a certain gene mutation means being at increased risk, it doesn’t mean that the person is certain to get cancer.

Genetic Testing and Screening

But when these mutations are identified, cancer screenings should be done more often. When screenings are done more frequently, cancers are identified at much earlier stages, when they are far easier to treat and potentially cure.

Genetic testing is typically done fairly easily through a saliva sample. According to Dr. Dubard-Gault, it should be considered a low-risk intervention, with a high benefit, for the patient and potentially for other people in that patient’s life.

Key Points

  • Personalized medicine uses information about genes and other biomarkers related to a person’s tumor to make an accurate diagnosis and decide on the best treatment
  • Targeted therapy refers to drugs that specifically target a certain gene, protein, or other biomarkers that control how the cancer cells grow, divide, and spread
  • Obtaining an adequate tissue sample for biomarker or molecular analysis can take time and may delay the start of treatment with targeted therapy
  • Many patients are not offered molecular testing, although the current standard of care in the United States dictates that all patients should be offered broad molecular testing
  • Biologics, or targeted drugs, are very costly drugs and the high price can deter many patients from using the treatment as prescribed
  • About 1 in 8 patients with any type of cancer has a hereditary gene mutation

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