Q: What is the benefit of genetic testing?
A: Your genes can help you understand whether you are at increased risk for certain health conditions and how your body might process certain medications.* In fact, 10 - 15% of most cancers are due to genetic variants, or changes that are passed down through parents. Most cases of heart disease are due to a combination of lifestyle choices, but some are due to genetics. In addition, when you take a medication, your response is influenced by many factors including genetics. Knowing your genes allows you and your doctor to guide choices for health and prevention.
Q: Is this a ‘once-in-a-lifetime’ test, or will I need to be retested?
A: This test analyzes genes with “actionable” results. As our understanding of genomics evolves, there are likely to be new discoveries that are not covered by the current test, including new genes or new technology that lets us better look at previously tested genes. Patients should check with their physician every few years to learn of updated testing options, or sooner if there are changes to your personal/family history.
Q: Will I need this test if I already did the Color™ test?
A: Discuss with your physician if the new test is appropriate for you. For some people the enhanced tests will offer similar results but for others, particularly people at risk for rarer disease genes, the enhanced test from Sema4 might be beneficial. If you are interested in this expanded panel testing, contact NorthShore’s Neaman Center for Personalized Medicine at 847.570.GENE (4363).
Q: What types of results will I receive?
A: A positive result means you have a gene variant that puts you at an increased risk of developing cancer or heart disease – it does not mean that you will definitely develop it. Your physician can help you build a personalized screening plan based on your results. You will have the opportunity to discuss your results, as well as screening and prevention recommendations, by scheduling an appointment with a NorthShore Genetic Care Coordinator through NorthShoreConnect.
A negative result means that no gene variants were found on this test. There are other factors that may increase your risk for cancer or heart disease based on personal, family history, or environmental factors. We recommend discussing any concerns with your physician or a genetic counselor.
A variant of unknown significance (VUS) means that a portion of the gene looks different from the way it’s normally expected to look however, it is not confirmed whether this variant is a harmless change or a risk factor for a certain condition.
Q: How do my results impact my family members?
A: Your results can help your family members understand their risk. If your results show that you could be at risk for any of the tested conditions, there is a 50% chance that each of your first-degree relatives could be at increased risk too. Based on your results, NorthShore genetic counselors will provide recommendations for testing family members.
Q: Can interpretation of my results change based on new discovery? How will I get this information?
A: Interpretation of results can change with new data. For example, some patients are identified as carriers of ‘Variants of Uncertain Significance’ or ‘VUS’. This means that a variant was identified in which the clinical impact is not fully understood. Should a variant be reclassified as being significant or benign, NorthShore will contact you via NorthShoreConnect.
Q: Will these genetic test results affect patients’ future life insurance policies?
A: Patients should call their life insurance company to find out if genetic information might impact rates and coverage for new policies.
Q: What is the Genomic Health Initiative (GHI)?
A: We are also inviting all NorthShore patients age 18 or older to participate in this separate research study. The Genomic Health Initiative (GHI) investigates the relationship between DNA sequence variations in human genes and diseases. The results of our analyses may lead to discoveries about the relationship between DNA sequences and disease, which in turn may lead to insights into new medical treatments and prevention.
*Do not change or stop taking any medicine based on a genetic test report without consulting your healthcare provider. This test is not intended to inform you about your current state of health, including whether or not you should take a medication or how much you should take. This test does not diagnose any health conditions and is not a substitute for visiting your health care provider. Discuss the results of the genetic test with your healthcare provider, including whether the medication label includes information on how to use genetic information to determine dosage. Medicine should always be taken as prescribed by your healthcare provider.