Long QT Syndrome Genetic Testing for Inherited Arrhythmias. patient guide

Transcription

1 Long QT Syndrome Genetic Testing for Inherited Arrhythmias patient guide

2 What is Long QT Syndrome? Arrhythmias are problems with the electrical system in the heart that controls the heartbeat s regular rhythm. Long QT syndrome (LQTS) refers to an arrhythmia with a longer than normal QT interval (an amount of time that is measured during heartbeats). This interval can be measured during an electrocardiogram (EKG). This abnormal heart rhythm (the longer QT interval) can cause fainting (called syncope) either during exercise, high stress, or without warning. If you or someone in your family has LQTS, you are not alone. About 1 in 2,500 people has the condition, so over 100,000 people in the US probably have LQTS. However, making a diagnosis can often be difficult. Some people with LQTS will have a normal EKG without the longer QT interval. If the arrhythmia is not well-controlled with medication, someone with LQTS may have a high risk for sudden cardiac death. A cardiologist may recommend an implantable cardioverter defibrillator (ICD) device, which can correct any abnormal rhythms and prevent sudden death. An early diagnosis and screening for LQTS may prevent this and save lives. normal ekg Q R S R Q R S T R T ekg with lqts Normal QT Interval Normal QT Interval Q R S Q R S T T R R Long QT Interval Long QT Interval

3 What Causes LQTS? Genes are instructions for how our bodies work and develop. Everyone has two copies of each gene. We get one copy of each gene from each of our parents. Mutations (changes in the gene, like spelling mistakes) in certain genes can cause LQTS. The arrhythmia in LQTS can be hereditary (caused by a mutation in a gene), or it can be caused by other factors like certain medications. How Likely is it that Genetic Testing Will Find a Mutation? If you have LQTS, there is about a 75% chance that Ambry s genetic testing will find a gene mutation that is causing it. Not every gene that causes LQTS is known or understood at this point in time. With further research, the chances of finding a mutation in you may be better in the future. Other SCN5A Unknown KCNQ1 Mutations in the KCNH2, KCNQ1, and SCN5A genes have been found in most people patients with LQTS. KCNH2 Is LQTS Genetic Testing Right for Me? Medical experts recommend genetic testing for all those suspected to have LQTS or those with a longer QT interval on an EKG. This testing may also help find family members that have or may develop LQTS. However, learning information from genetic testing can cause worry and anxiety for some. Please talk to your doctor or genetic counselor about any questions or concerns you have during the process. While many issues are reviewed in this booklet, this information is meant to add to a talk you have with your doctor or genetic counselor.

4 If I Already Have LQTS, Why Should I Have Genetic Testing? Here are some ways that genetic testing may help you or your family: Your testing could tell your doctor that he or she needs to consider changes to your medical care. If your testing finds a gene mutation that causes your LQTS, your family members can choose to be tested for this same mutation. What Happens if I Test Positive for a Gene Mutation? There is a 50/50 random chance that each of your children, brothers, sisters, and parents, also has this same mutation. The picture below shows how people carry (inherit) and pass on these mutations. Your family members can now be tested for this mutation, if they would like. Any family members who also carry the mutation will likely develop LQTS and should by followed by a cardiologist. Any family members who test negative for this mutation are likely not at risk for LQTS and should not need to have a cardiologist follow them closely. Has LQTS gene mutation Does not have LQTS gene mutation notes

5 What Do My Results Mean? If you have genetic testing, you will receive one of three possible results in your test report: positive, negative, or inconclusive ( variant of unknown significance or VUS). Below are explanations of these results, which you should discuss with your doctor or genetic counselor. results Positive Negative Inconclusive explanation A mutation was found in a gene that causes LQTS. This confirms a diagnosis of LQTS in you. Talk to your doctor about which screening or treatment options are right for you. Your family members can now be tested for this same mutation, if they would like. Your testing did not find any gene mutations that cause LQTS. This does not change your cardiovascular diagnosis. If you have been diagnosed with LQTS, that remains the same. You may still have a mutation in a gene not included in this test. Talk with your doctor or genetic counselor about whether more genetic testing is right for you. If you have LQTS, all your close family members (like your parents, brothers, sisters, children) should talk with their doctor about screening. A variant of unknown significance (VUS) in a gene was found, but we do not know if it causes LQTS or not. This does not change your cardiovascular diagnosis. If you have been diagnosed with LQTS, that remains the same. Talk with your doctor or genetic counselor about whether more genetic testing is right for you or your family. Testing your family members with LQTS may help explain this VUS. If you have LQTS, all your close family members (like your parents, brothers, sisters, children) should talk with their doctor about screening. notes

6 What Should I Tell My Family Members About LQTS? If you have LQTS and choose not to have genetic testing, or if you test negative, LQTS may still run in your family. If you have LQTS, all of your close family members (like your brothers, sisters, parents, children) should see a cardiologist and have screening for the signs and symptoms of LQTS. It can develop at any age, so screening is recommended every few years. Has LQTS Should talk with their doctor about screening notes

7 Common Questions About Genetic Testing q1. how does genetic testing work? Genetic testing is done using a blood or saliva sample (other sample types may also be used please see ambrygen.com for details). Your sample is sent overnight in a special kit to Ambry (all organized by your doctor or genetic counselor). Once your sample and paperwork arrive at Ambry, your testing begins. Results usually take 3-8 weeks and will be sent to your doctor or genetic counselor, who will talk with you about them. q2. can genetic testing results be used against me? The Genetic Information Nondiscrimination Act of 2008 (GINA) is a U.S. law that states you cannot be denied a job or denied health insurance because of your genetic information. Unfortunately, this law does not apply to all individuals and does not apply to some types of insurance, like life insurance. Your state may have additional, more complete laws in this area. q3. how should i tell my relatives about my genetic test results? There are many ways to share genetic test results. You and your family may choose to share them by phone call, visiting in person, letter, or . It can sometimes be tricky because genetic testing is a very personal process, and everyone reacts to this type of news differently. Your doctor or genetic counselor can help you come up with a plan to tell your family members, in a way that works best for all of you.

8 Test Result and Recommendations To be completed by you and your doctor or genetic counselor, when you receive your genetic test results and medical management recommendations test result Negative: No mutation found Positive: Mutation found in gene Inconclusive: Variant of unknown significance found in gene recommendations for you recommendations for family members Genetic testing is recommended for family members Genetic testing is not available or recommended for family members

9 Billing Questions: Ambry s Patient Protection Plan q1. what is ambry s billing policy? Ambry s billing policy is to preverify insurance coverage (with or without your sample) for genetic testing. We will contact you after your sample is received, if your out-of-pocket cost is estimated to exceed $100. We are committed to working with you and your clinician to make the genetic testing process as simple and cost-effective as possible, and our Billing Department is available to answer any questions you may have. Our Billing Department can be reached by phone at or [email protected]. q2. what is an explanation of benefits (eob)? Your insurance company sends you an EOB to explain any treatments/ services paid on your behalf. It is not a bill and does not require payment. You can contact us directly to speak with a Billing specialist with any questions/concerns about your EOB. q3. how much do ambry s tests cost? We are committed to making the genetic testing process as simple and cost-effective as possible. Prices depend on if your insurance plan is contracted with Ambry, and if they are a private or public plan. We also offer prices when someone pays by cash, or when an institution pays. This not necessarily what is reflected on an EOB, so please contact us directly to speak with a Billing specialist with any questions/concerns. q4. why did i receive a bill more than a month after my test? Some genetic tests take weeks to process to receive the best results. In addition, insurance companies can take over two months to process claims, and longer if we need to send information again. All of this could delay your bill, but we try our best to prevent this from happening. You can contact a Billing specialist at or [email protected] with any of your questions/concerns.

10 Resources These and other resources can help build a sense of community and help answer some common questions. national society of genetic counselors sudden arrhythmia death syndromes (sads) foundation genetic information nondiscrimination act (gina) Find a Genetic Counselor national society of genetic counselors nsgc.org About Ambry innovation Ambry is a leading provider of diagnostic genetic testing, with years of experience using next generation sequencing technologies. expertise Since 2001, Ambry has performed hundreds of thousands of genetic tests and identified more than 45,000 mutations in greater than 500 different genes. ambry genetics 15 Argonaut Aliso Viejo, CA USA [email protected] For more details about these tests, visit ambrygen.com

11 Let s find the answer.

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