Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. You might also consider techniques that Theresa Smith offered in her post here. Ambry is committed to delivering the most accurate genetic test results possible. Among men with prior genetic testing, 15% were found to have pathogenic variants via multi-gene panel testing that may have been missed based on previous test results (IHC, somatic and limited germline testing). The purpose of this blog is to promote broad understanding and knowledge of various health topics. Now throw in the decision to have genetic testing, receiving powerful results, and having the responsibility of relaying those results to your family members. In the end, your genetic test results should help you and your family understand if you have an increased risk for cancer, what those risks are, and what options you have to reduce your risk. How exactly can genetic test results be tricky when it comes to sharing them? Subscribe to our blog for updates, sent out every month. Subscribe *We handle your contact details in line with our Privacy Policy.You can opt-out of communications or customize your preferences at any time. I hope that when you receive your test results, you will feel armed with knowledge on what type of information your healthcare provider should provide you with regarding your test results. Mary Pritzlaff is a Cancer Reporting Supervisor at Ambry Genetics. Surprisingly, there is little evidence that men who meet the classic definition of hereditary prostate cancer have pathogenic variants in the DNA repair genes. If a mutation was found, you will learn which gene the mutation is in, if there is a specific named condition associated with that gene, and what type(s) of cancer you have an increased risk for and about how high the risks are (if known). It is not intended to be a substitute for professional medical advice, diagnosis or treatment. The fact that supplemental RNA testing has the potential to offer clarity for an additional 1 in 50 patients is a gamechanger. Be sure to ask your healthcare provider for a copy of your genetic test results and have them walk you through the important points of the report. If your doctor or genetic counselor thinks that you could have Lynch syndrome, you may be offered testing for one or all of these genes. The issues that can come up when sharing genetic test results have the potential to throw off any family. 2014 Mar 18;110(6):1663-72. Our dedication to education, evidence-based science, and quality processes help provide more you with more accurate, actionable results for your patients. Learn more about our products today. Caris Life Sciences® and Ambry Genetics® Partnership. Ambry Genetics is setting a new bar for genetic testing.” Sharing your test results is when you find out who’s in which camp, and this is where things can get messy. You could also point them to, Don’t expect them to do what you did: Even though they may support your decision to have testing, they may not want it themselves – and this is ok, because everyone is different. The issues that can come up when sharing genetic test results have the potential to throw off any family. Request a sample kit today Request a sample kit today In observance of Thanksgiving, Ambry's business office will be closed on Thursday, November 26, 2020. 5 genes are currently associated with Lynch syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM. Prior to gaining her M.S. Subscribe to our blog for updates, sent out every month. The good news is that the challenges you face might be temporary – sometimes, people just need time to adjust to the new information you’re telling them. The most common cause of inherited colorectal cancer is Lynch syndrome (previously called HNPCC or hereditary non-polyposis colorectal cancer). When hearing your genetic testing results, one of the first things you will learn is whether your results are positive, negative, or variant of unknown significance (VUS). As Theresa said, it allows you to, “…be proactive instead of reactive about our own health, and the health of the ones we love the most.” Not everyone will understand why you’re sharing your test results with them. I feel funny writing about sharing genetic test results with family when I’ve never done it myself, but don’t let that stop you from reading… I’ll draw upon my years in the clinic as a genetic counselor, DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE. Our best-in-class variant assessment program is dedicated to resolving VUS to give you and your patients more clarity. Frequent germline deleterious mutations in DNA repair genes in familial PC cases are associated with advanced disease. … Together, these results highlight the utility of multi-gene panel testing for men with prostate cancer; particularly men with aggressive disease, or with a personal or family history of other cancers. Our team is here to support and serve you. We accomplish this scientific excellence through our rigorous test development, quality control, confirmatory testing, and best-in-class variant assessment and interpretation tools. The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. As a result, in 2017, expert consensus guidelines recommended genetic testing for men with any of the following: However, these testing guidelines are based on limited evidence. I have seen that it’s complicated for some families, but it can be done. Your healthcare provider will then go over the options you have for reducing your risks and/or screening for cancers to make sure if a cancer develops, it is caught as early as possible, when it is the easiest to treat. Some people love information, and some loathe it. When a clinician orders a genetic test to discover the genetic cause of a particular condition, the test will often sequence one or a few genes that seem most likely to be associated with that individual’s set of signs and symptoms. Leongamornlert D, Saunders E, Dadev T et al. “Ambiguity in genetic test results is challenging for health care providers and for our patients. Learning the results of genetic testing can be a stressful experience for some, but it also has the potential to be empowering. Mary is a Fightin’ Texas Aggie and earned her Master’s Degree in Genetic Counseling from the University of Cincinnati. Thus, there was an urgent need to determine a more robust way to identify pathogenic variants in men with prostate cancer. DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE. I have seen that it’s complicated for some families, but it can be done. +RNAinsight®: Finding Answers for More Patients - A Year in Review, Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Breast Cancer. Every family with Lynch syndrome is different, and each is considered individually beyond their genetic test result. +RNAinsight®: Finding Answers for More Patients - A Year in Review, Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Breast Cancer. You might also consider techniques that Theresa Smith offered in her post here. Experience matters for patient care, and Ambry Genetics has decades of experience in industry-leading testing. Even at the best of times, family dynamics can be tricky (and not just around the holidays!). If you are found to have a mutation (misspelling) in one of these genes, this confirms you to be at increased risk for developing colorectal cancer. A recently published Ambry Genetics’ study in Genetics in Medicine, described an analysis of 1,812 men with prostate cancer who underwent clinical genetic testing.