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What is Precision Medicine?

Precision Medicine is an approach to treatment in which physicians match molecularly-targeted therapies to patient-specific genetic abnormalities. With new gene-sequencing tools scientists can now discover molecular targets within cells, and can focus treatments on these targets while avoiding normal cells. Using custom-designed treatments to attack specific cells is especially relevant in the treatment of cancer because most existing cancer treatments target all rapidly dividing cells in the body.

What will I gain from participation in Precision Medicine?

In cancer care, Precision Medicine provides insight into each cancer patient’s disease by determining the specific molecular changes that have occurred in the cancer cells to cause disease. Patients benefit from this approach because clinicians can more accurately prescribe targeted therapies to treat their disease.  Instead of treating cancer based upon the type of cancer (lung, prostate, breast, etc.), Precision Medicine focuses on treating the disease based on the actual genes or pathways that are driving the disease.  The information we are gathering from every patient is helping us learn how specific mutations affect patients’ responses to existing cancer therapies and those in development.  As we learn more and more from our patients, we and other researchers will be able to treat advanced cancer, and develop better therapeutics and diagnostic tools and ultimately improve outcomes for all patients.

What is cancer?

Cancer is a disease that develops when cells in the body grow and multiply in an uncontrolled manner. These aberrant cells replace normal tissue or blood cells, and often grow to form a lump or tumor. Tumors may be benign (not cancer) or malignant (cancer).

Are all cancers the same?

While there are general ways in which cancers of the same organ are similar, no two cancers are exactly alike. The differences have to do with the “biology” of the disease. Each individual’s cancer has its own genetic characteristics. Because of these genetic differences each person responds differently to the cancer and treatments he or she undergoes.

What causes cancer?

Scientists now know that cancer originates from changes, or mutations, in our DNA, the chemical that carries the instructions for cell functioning. These changes in a cell’s DNA can spur it to divide in an uncontrolled fashion, become malignant and form a tumor, and damage surrounding tissues. A change or mistake in the DNA is called a mutation. A mutation can also occur if a mistake is made as the gene’s DNA copies itself when a cell divides. Cancer usually develops after several different mutations have occurred. These mutations may occur at random or they may be caused by environmental factors such as ultraviolet radiation from the sun, exposure to viruses, or from lifestyle choices such as smoking. Most gene mutations are not present at birth but are acquired throughout life.

What is a gene?

A gene is a long strand of DNA that contains the instructions a cell needs to make vital protein molecules. Proteins control how tissues and organs are structured, work, and are regulated. DNA is formed by a sequence of four chemical bases lined up in a row and linked together like a twisted ladder. The sequence, or order, of these bases determines the information available for building and maintaining the body—similar to letters of the alphabet appearing in a certain order to form words and sentences. Any change in the order of chemical bases has an impact on the proteins cells produce, which, in turn, affects the body and how it functions.

What is a gene mutation?

A gene mutation is a permanent change in the sequence of chemical bases in a cell’s DNA. Any change in the gene causes one or more of the proteins it directs to function incorrectly or not at all. This, in turn, prevents the cell from working properly and can cause diseases such as cancer. Gene mutations can be inherited from a parent or acquired during a person’s lifetime.

How are genes related to cancer?

Genes instruct the cells of the body to make proteins that are vital to its normal functioning. Each cell depends on thousands of proteins to do its job correctly and at the right time. A gene mutation can cause the cell to produce too little or too much of a protein, or for a protein to malfunction. If the protein plays a critical role, this will prevent the cell or organ from developing or functioning properly and can lead to the development of diseases such as cancer.

How are targeted therapies different from traditional chemotherapy?

Traditional chemotherapy kills all rapidly growing and dividing cells and these drugs often cause unwanted side effects such as hair loss or low blood cell counts. In contrast, targeted therapies are designed to target and interfere with a specific gene, pathway, or process in a tumor. In this way, they impair the tumor’s ability to grow, divide, and spread. Because normal cells are not affected, targeted therapies usually have fewer and less-harmful side effects.

Can every cancer patient benefit from Precision Medicine?

Since various forms of cancer have been found to share common tumor mutations, cancer researchers are learning to use the same targeted drugs for several different tumor types. Not all genes, mutations, or abnormal cell processes in cancers have been identified. With research continuing at a fast pace, targeted therapy will likely be used to help even more cancer patients with other tumor types.

How long does it take to gather the findings? Who goes over the findings with me?

Results from the Englander Institute for Precision Medicine’s EXaCT1 test are available in approximately four to six weeks. These results are discussed within the EIPM Tumor Board with clinical, research, and computational experts before they are presented to your doctor, who will go over the findings with you.

What does participation in EIPM research involve?

When you meet with the precision medicine team for an initial consultation they will inform you about the goals of the EIPM research study, and the potential risks and benefits. If you decide to enroll in the study, you will sign a consent form giving a pathologist permission to examine your tumor tissue. We can sometimes use tissue from a previous surgery, but participants must often undergo another biopsy so that we can obtain fresh tissue from your tumor. We also require about 20ml of blood (obtained through a simple blood draw), so that our scientists can examine the normal (non-cancerous) DNA.

What are the potential risks?

Risk of blood draw: Discomfort, inflammation, bruising, clot or infection the site of venipuncture. Blood loss is also a possibility, but it is rare as only a small amount of blood is collected.
Risk of biopsy: The potential risks of a biopsy are based on the technique used. The doctor will explain the specific risks if you need to have a biopsy. Generally, biopsies can cause inflammation, swelling, bleeding, and infection.
Risk of invasion of privacy: We make every effort to protect your privacy.
Risk of molecular studies performed: We may identify genetic mutations in your cancer cells for which there are no approved therapies or mutations whose biologic significance is not fully understood. Although our analysis is focusing on genetic mutations found in cancer, we may discover mutations in normal DNA that could influence your or your family’s susceptibility to other cancers or genetic diseases.

If you sequence the entire genome and find out about other genetic diseases that I may have, how is that communicated to me?

At this time, we are only reporting the findings pertaining the molecular profiling of your cancer. In the event that we identify a hereditary or germline DNA mutation that may influence your or your family’s susceptibility to other cancers or genetic diseases, these results would be communicated to you and you would have the opportunity to meet with a genetic counselor.

Will participation in this study have a clinical impact on my care?

Participation in the study may or may not impact your clinical care. Your doctor may use the clinical findings to tailor your medical treatment, based on the specific pathways or genes found to be driving your cancer’s growth. There is a possibility that our findings will have limited or no clinical utility at this time since our understanding of some of these molecular mechanisms is just emerging. These findings may become relevant during the course of your disease as medical research advances.

What will you do with the information other than using it for research? How confidential is this?

The findings will be used for research and stored in a secure database. Our systems store comprehensive, de-identified, individual-specific data. Every effort is made to protect your privacy. Your insurance will only be billed for the consultation with the Precision Medicine team. There is no cost to you or your insurance company after that.

What happens if you find a targetable mutation, but there is no medication for it?

Precision medicine should ultimately ensure that every patient gets the right dose of the right treatment at the right time, with minimum consequences and maximum efficacy. However, there may not be a medication available yet to treat your tumor. Our goal is to develop these over time.

Why do I need to come to the clinic and meet with the EIPM team?

Patients are required to come to our clinic and meet with the Precision Medicine Team to ensure that you have a clear understanding of what participation entails and realistic expectations of how useful the findings may be. You will have an opportunity to ask questions, as well as sign a consent form and enroll if you wish to do so. By enrolling in this program, you will significantly help fuel cancer research.