Genotyping and Smart Drugs: FAQs

Learn more about molecular fingerprinting Currently, we are testing tumors for over 130 different mutations, and using promising smart drugs to treat some of them.

Frequently Asked Questions I have cancer. Am I eligible for molecular fingerprinting and smart drugs?To be eligible for molecular fingerprinting (also referred to as “genotyping”) at the Massachusetts General Hospital Cancer Center, you must be a current or prospective patient at the Cancer Center with melanoma, leukemia, brain or metastatic breast cancer, or a metastatic adenocarcinoma that started in the lung, colon or rectum. A typical lung cancer patient appropriate for this type of genetic testing is a non-smoker or someone with a past light smoking history. Most individuals with these types of genetic mutations present with lung cancer at a younger age than typical lung cancer cases, and are otherwise healthy. Although there seems to be a “patient profile” for lung cancer patients, there are no known attributes that are commonly seen in colorectal, breast cancer, melanoma or leukemia patients. To find out more, call 877-726-5130.

If we find a genetic mutation in your tumor that can be treated with targeted therapy (“smart drugs”), your physician will discuss this option with you. This may involve enrolling in a clinical trial since many smart drugs are quite new. Currently, we are testing tumors for over 130 different mutations, and using smart drugs to treat some of them. Your tumor sample will also be kept on file so it can be re-tested if new mutations, and smart drugs to treat them, are discovered in the future.

What is the difference between tumor genotyping and genetic testing?Genetic testing combines a study of family history with an analysis of patterns in genes and chromosomes within normal cells in order to determine the likelihood of a person developing a disease, or passing an inherited condition to their children. Tumor genotyping, however, is testing done to the tumor sample obtained from a person with cancer in order to identify mutations which can help physicians make decisions about treatment. Because the changes identified by tumor genotyping are almost always confined to the tumor cells and are rarely if ever found in normal cells, genotyping does not predict whether or not the cancer was or could potentially be inherited.

What does molecular fingerprinting reveal?Molecular fingerprinting finds abnormalities in the genes within a cancer that transform normal cells into cancer cells. Cancer cells are very dependent on the pathways they activate for their survival. Certain genetic mutations are responsible for “flipping the switch” and causing the cancer to grow. Genotyping provides oncologists with a plan of attack against a growing number of mutations – including abnormalities of the epidermal growth factor receptor (EGFR), B-Raf proto-oncogene serine/threonine-protein kinase (BRAF) and anaplastic lymphoma kinase (ALK) – which can now be treated with specific smart drugs.

How do smart drugs work?Once a tumor’s mutations are identified through genotyping, should a targeted therapy be available for that mutation, it can be deployed to deactivate the growth pathways, attacking the cancer at its power source. This tailored approach can help slow and even reverse the tumor’s growth with minimal damage to healthy cells.

How are smart drugs different from traditional chemotherapy?Smart drugs have the potential to provide effective treatment with fewer side effects than traditional therapy. In addition, smart drugs may provide new options for patients whose tumors have become resistant to conventional therapy. Typically, smart drugs are given in pill form, freeing patients from the constraints of IV chemotherapy.

It is important to know that even when smart drugs are effective, they may not be able to eliminate the tumor completely. For this reason we continue to broaden our genotyping program and to develop and test new smart drugs in order to provide additional treatment options if cancer returns.

What are the steps in the genotyping/smart drugs process?If your oncologist recommends genotyping, a sample of your original tumor will be tested using state-of-the-art automated technology, and results are typically available within a month. In some cases a new tumor sample will be taken during a biopsy. If your test reveals a genetic mutation that can be treated with a smart drug, you may either receive the drug, if it is already in clinical use, or you will have the option to enroll in a clinical trial testing a new and promising targeted therapy.

Can every cancer patient benefit from molecular fingerprinting and smart drugs?The science of molecular fingerprinting is relatively new, but is developing at a rapid pace. Although mutations will not be identified in every cancer, and smart drugs are currently only available for a handful of identified mutations, researchers believe broader testing will lead to the discovery of additional abnormalities and the creation of more personalized medicines.

Are there other screening and treatment options available for me at the Mass General Cancer Center?Many clinical trials and other treatment options are available for a wide variety of cancers through oncology specialists at the Mass General Cancer Center. In some cases, this may involve molecular fingerprinting, if it is recommended by your oncologist at Mass General. If you have cancer and wish to be seen at Mass General please call: 877-726-5130.

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