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| Part of the Getting the Best Care for ATTR Amyloidosis series |
If you or a close relative has been diagnosed with hereditary transthyretin (hATTR) amyloidosis, you might have questions about what comes next — not just for yourself, but for your family. Because hATTR amyloidosis is a genetic condition, it’s important to understand your genetic risks and options.
Genetic testing and family counseling can help you and your relatives better understand the potential impact of hATTR amyloidosis, make informed decisions about your health, and find support for navigating this inherited condition together. In this article, we’ll review the importance of genetic testing for hATTR amyloidosis and what you need to know if you’re interested in genetic testing and counseling.
People with hATTR amyloidosis have a mutation (change) in a gene that makes a protein called transthyretin (or TTR). Because of this genetic mutation, the protein doesn’t fold like it should, and the body can’t get rid of it efficiently. As a result, the misfolded proteins pile up in different parts of the body. These piles are called amyloid deposits.
There are two types of ATTR amyloidosis — hATTR and wild-type ATTR amyloidosis (ATTRwt). Wild-type ATTR amyloidosis is typically age-related and not inherited, while hATTR is hereditary, and can be passed down from parent to child.
Researchers have found over 130 changes (mutations) in the TTR gene that can lead to hATTR. Different changes can cause hATTR amyloidosis to appear in different ways — for example, primarily affecting the nerves (neuropathy) or the heart (cardiomyopathy) — and may appear at different times.
Genetic mutations can influence several characteristics of hATTR, including:
There are several treatment options available for hATTR amyloidosis. Learning more about your hATTR and genetic mutations through genetic testing may help guide your healthcare provider to the best treatment option for you — especially with the availability of gene-silencing and stabilizer therapies that directly target the disease process.
Whether you’re pursuing genetic testing because you’ve been diagnosed with hATTR amyloidosis, or because a close relative has it, test results can give you the information you need to make informed decisions about your health.
There are several services available for people who want to get genetic testing for hATTR amyloidosis. If you choose to do genetic testing, you may also want to receive family counseling, which can help you make sense of your genetic testing results.
Family counseling often involves meeting with a genetic counselor as a group to talk about your family’s health history, how genetic risks may affect each person, and ways to support one another. Counselors can help your family discuss difficult topics and make shared decisions about genetic testing — always respecting your personal choices and maintaining a nonjudgmental, nondirective approach.
Genetic testing is a lab test that looks for certain changes in your genes. If you are getting tested for hATTR amyloidosis, the test will focus on your TTR gene. Other genes can also be analyzed at the same time if needed.
Even though genetic testing looks at your DNA, the process isn’t invasive. It can be done with a sample of your blood, saliva, or cells from the inside of your cheek. The sample is then sent to a lab for analysis, and results are usually available in just a few weeks.
You can ask your primary care doctor or a specialist, such as a neurologist or cardiologist, for a referral for genetic testing or counseling. Some hospitals or clinics have genetic counselors on staff, while others may refer you to an outside specialist. Health insurance may cover these services, but it’s a good idea to check with your plan in advance to confirm coverage for both the test and the counseling sessions.
Genetic counselors specialize in genes and genetic conditions. They are trained to interpret and guide you through genetic testing results. You may choose to receive genetic counseling alone or bring family members with you. Including family members can help them decide if they also want to receive genetic testing. You can also bring a family member or trusted friend to support you and help you remember what the counselor says during your appointment.
Before you have genetic testing, you will meet with a genetic counselor. They can tell you more about the TTR gene and explain what the test looks for and how it works. They’ll also let you know when you can expect your results and what kinds of results you might receive, including positive (mutation found), negative (no mutation found), or a variant of unknown significance (VUS).
You’ll likely meet with a genetic counselor after receiving your genetic testing results as well. They will help you interpret your test results and tell you if you’re at risk for hATTR amyloidosis. If you’ve already been diagnosed with hATTR amyloidosis, your genetic counselor may be able to tell you if your family members are also at risk of developing it.
Based on your genetic testing results, your genetic counselor can tell you about your basic treatment and care choices. The counselor will also send you back to your main doctor (neurologist or cardiologist) for a more detailed, personalized treatment plan.
Your genetic counselor can also help you with questions about family planning, including options such as prenatal diagnosis or preimplantation genetic diagnosis (PGD). They can also guide you on how to talk about your diagnosis and genetic connections with your family members, and may even provide letters explaining the diagnosis for you to share with your family.
Learning about your genetic risks can bring up many feelings, including worry, relief, or even tension within your family. It’s important to know that your genetic information is confidential, and you decide how and when to share it. A genetic counselor can help you and your family talk through these feelings and find healthy ways to cope.
The first person who may choose to get genetic testing for hATTR amyloidosis is someone who has already been diagnosed with the condition. Genetic testing may be recommended as part of the diagnosis process, or you may choose to get tested to understand whether your family members are also at risk.
If you do test positive for a genetic mutation related to hATTR amyloidosis, your closest biological relatives should also be tested. This includes your parents, children, and siblings. Because you only need one changed TTR gene to get amyloidosis, these family members have a 50 percent chance of having the gene change too. Your genetic counselor can help you decide if other relatives should get tested and how to talk to them about it.
Remember, you don’t have to face hATTR amyloidosis alone. By learning about genetic testing and family counseling, you can take steps to protect your health and support your loved ones.
On MyAmyloidosisTeam, people share their experiences with amyloidosis, get advice, and find support from others who understand.
How has genetic testing or family counseling helped you understand hATTR amyloidosis in your family tree? Let others know in the comments below.
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