Let’s discuss an example: A man may test positive for a mutation in the MLH1 gene and have a family history of stomach cancer or kidney cancer. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. A negative result means your genetic testing was normal; however, it doesn’t always mean you have a low risk of cancer. As a genetic counselor specializing in cancer genetics, I’m happy to be contributing to the Ambry patient blog during National Colorectal Cancer Awareness Month. in Genetic Counseling from University of California, Irvine, Selvi was a researcher at the Howard Hughes Medical Institute at University of Michigan. Among all men with no prior genetic testing, the pooled frequency of pathogenic variants in therapeutically actionable genes (BRCA1/2 and mismatch repair genes) was 7.4%. Give them what they need: Your exact test result, with the gene and any mutation(s) found, is what relatives need if they want to do their own testing. Ambry is committed to delivering the most accurate genetic test results possible. Some relatives may welcome the details, while others might wonder why you even considered genetic testing in the first place. Your doctor can also discuss with you the best time period between colonoscopies, to remove any polyps that might form. Learn more about our products today. We accomplish this scientific excellence through our rigorous test development, quality control, confirmatory testing, and best-in-class variant assessment and interpretation tools. Read the complete study from Genetics in Medicine. Now throw in the decision to have genetic testing, receiving powerful results, and having the responsibility of relaying those results to your family members. 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, If your test results are positive, your close blood relatives may have also inherited the same gene mutation you have. Learning the results of genetic testing can be a stressful experience for some, but it also has the potential to be empowering. Pritchard CC, Mateo J, Walsh MF et al. DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE. They might come back a little later, ready to hear what you have to say. Mary Pritzlaff is a Cancer Reporting Supervisor at Ambry Genetics. You can find a genetic counselor in your area at www.nsgc.org (USA) or https://www.cagc-accg.ca (Canada). Sharing your test results is when you find out who’s in which camp, and this is where things can get messy. Learn more about our products today. They might come around with time. 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. The purpose of this blog is to promote broad understanding and knowledge of various health topics. The fact that supplemental RNA testing has the potential to offer clarity for an additional 1 in 50 patients is a gamechanger. Thus, there was an urgent need to determine a more robust way to identify pathogenic variants in men with prostate cancer. If you aren’t familiar with these terms, our Genetics 101 video can help you feel more comfortable. Deepti earned her Master’s in Human Genetics/Genetic Counseling from Sarah Lawrence College in 1999. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. This classic definition includes men with one of the following: Recent data suggests that aggressive prostate cancer and a family history of other cancers may be better predictors for pathogenic variants in men with prostate cancer1,2 . One challenge, however, is determining which men should undergo genetic testing. They can have genetic testing to determine whether they also have increased risks for certain types of cancer (and if so, what they can do about it) or if they have the average risk for cancer and most likely don’t need to be taking extra precautions. Your doctor or genetic counselor might even have examples to use, or be able to help you write this. Reliance on any information appearing on this blog is solely at your own risk. A list of forms utilized by Ambry Genetics for genetic testing. Ambry’s CARE for COVID Program™ will help OC residents to make informed decisions about testing, frequency of wellness checks, and health management In a press conference held on November 17, 2020, Vice Chairman Andrew Do of the Orange County Board 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. If you test positive for a Lynch syndrome gene mutation, your doctor will recommend starting your colonoscopies earlier, usually starting between ages 25-35. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. The most common cause of inherited colorectal cancer is Lynch syndrome (previously called HNPCC or hereditary non-polyposis colorectal cancer). At Ambry, our comprehensive genetic testing menu includes screening and diagnosis for a myriad of conditions, including: Hereditary cancer, hereditary cardiovascular disease, neurodevelopmental disorders, epilepsy, rare disease, and exome. DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE. As such, his family members would be recommended to have screening for stomach and kidney cancers. Ambry is committed to delivering the most accurate genetic test results possible. 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. People with Lynch syndrome can develop colorectal and other cancers at an earlier age than usual, so screening for these cancers earlier is important. Send a letter or email, consider social media: If you’re not as close with a family member, this could work. A VUS result means that a variant (or change in the gene’s spelling) was found, but we don’t have enough information yet to know whether that variant causes increased risks for cancer or is just part of the normal genetic variation that makes you unique. For more information and explanations of possible test results and what they mean for your family, please click here. Leongamornlert D, Saunders E, Dadev T et al. One of the biggest things to remind yourself is why you’re sharing them. DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Even at the best of times, family dynamics can be tricky (and not just around the holidays!). In these families, doctors will often recommend doing a screening test called an upper endoscopy to screen for stomach cancer. +RNAinsight®: Finding Answers for More Patients - A Year in Review, Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Breast Cancer, Call or meet face-to-face: If you have a close relationship with a family member, this might be a good option. 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. However, screening for these cancers might not be recommended for someone that tests positive for a mutation in the PMS2 gene, but has no family history of stomach or kidney cancers.
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