What is Genomics?
Genomics – in general – is the study of a complete set of genetic material (DNA), and when it comes to cancer research, studying DNA is crucial. Cancer develops when DNA becomes damaged or changed. Some cancer-causing genetic changes are inherited, while some come from exposure to chemicals (such as those in cigarette smoke), radiation, certain microbes or other environmental factors. Studying cancer genomics involves exploring the differences between cancer cells and normal cells.
There’s a paradigm shift taking place: We’re moving from an organ-focused (type of cancer) approach to a gene-focused approach. This shift is already having a profound effect on the way cancer is treated and allows doctors to provide more individualized options for patients (also known as precision medicine or precision oncology).
Researchers Working On Genomics
Genetic Testing: Learning More About Your Cancer Risk
Genetic testing can be an important tool in helping patients learn about their inherited cancer risk, but the results are not always as clear as patients might expect. Just as traits such as hair color and eye color can be passed down from parents to their children, so too can the risk for developing certain types of cancer. Scientists know that certain inherited gene mutations — small changes in a person’s DNA — can increase a person’s risk for developing diseases such as breast cancer, ovarian cancer, and colon cancer. Genetic testing examines a person’s DNA to determine if such mutations are present, helping patients better understand their cancer risk and, in some cases, allowing them to take charge of their health before receiving a devastating diagnosis. Understanding the Basics of Genetic Testing Only five to 10 percent of all cancers are believed to be tied to an inherited gene mutation.1 Genetic testing can help determine whether an individual has inherited a specific gene mutation (or mutations) that put him or her at higher risk for developing certain cancers. Most genetic tests require a small blood sample from the patient, but some tests can be performed using urine, saliva, or a cheek swab. The sample is sent to a special laboratory and results are usually provided to the patient’s doctor or genetic counselor within several weeks.2 Genetic testing can return one or a combination of the following results: Positive: The laboratory identified a genetic mutation that is associated with an inherited cancer risk.2 Negative: The laboratory did not find the specific genetic mutation (or mutations) that the test was designed to detect.2 Inconclusive: The laboratory was not able to determine whether a specific genetic mutation (or mutations) was present in the sample provided.2 Variance of Uncertain Significance: The laboratory identified a genetic mutation that has not been previously associated with cancer.2 No test can provide exact answers about a person’s inherited cancer risk. Genetic testing can tell you whether a specific genetic mutation is present in your DNA, but it cannot tell you for certain that you will develop the disease associated with that mutation later in life.3 Knowing Your Cancer Risk: Is Genetic Testing Right for You? Doctors often only recommend genetic testing for patients whose families have a history of certain cancers or patterns of cancer. According to the American Cancer Society, people who meet the following criteria might consider genetic testing: Cancer diagnoses in multiple first-degree relatives, including parents, siblings, or children1 Numerous relatives on one side of the family who have been diagnosed with the same cancer1 Family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer1 Family member(s) who has been diagnosed with more than one type of cancer1 Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer1 Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome1 Family member(s) who has been diagnosed with […]