Genetic Testing and Counseling for Hereditary Transthyretin Amyloidosis (hATTR)

Why genetic testing is critical

Genetic testing looks for changes, sometimes called variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. Early identification for hATTR amyloidosis (PDF) is important because therapy may be most effective when administered before significant disease progression. 

Genetic counseling

Genetic counseling gives you information about how genetic conditions might affect you or your family. A genetic counselor will educate you on the process and potential results, as well as the potential risks and uncertainties related to testing. Counseling is also critical after genetic testing so the counselor can explain the results and potential consequences for your health and the health of your family members, including children.

Genetic counselors can also advise and support patients on the best ways to communicate to other family members the news of any genetic variants they may discover. Although privacy laws restrict the ability of health care professionals to share information directly with potentially affected relatives, they can provide written letters that explain the genetic findings, which you can give to your family members.

Who should get tested?

Since immediate family members – first-degree relatives such as fathers, mothers, siblings or children – might share genetic variants predisposing them to an inherited disease such as hATTR, they are considered higher risk for the same conditions. hATTR is autosomal dominant – which means inheriting one altered copy of the gene is enough to cause the disease. So immediate family members of someone diagnosed with hATTR have a 50% chance of also inheriting the gene variant that can cause the condition. 

Once a genetic variant is identified within a family, all first-degree relatives should consider undergoing genetic testing and counseling for that specific condition whenever possible. Your genetic counselor can work with you through shared decision-making to determine additional family members who may be candidates for genetic testing.

How is the test conducted?

Genetic tests are minimally invasive. Depending on the condition being testing for, they are conducted using a blood, saliva or cheek swab sample. Results are usually ready in a few weeks.

Where can I get tested?

Genetic testing for rare and undiagnosed conditions should be ordered by a qualified health care professional. They can provide information on available genetic testing and counseling services.

How much will it cost?

Many insurance companies including commercial plans, Medicare and Medicaid will cover genetic testing.

It’s important to talk to your health care team and health insurance company for details. Prior authorizations may also be needed. Your health care professional may be able to provide additional information. As part of your evaluation, the genetic counselor may also be able to help you understand the costs.

What’s next?

Talk with your medical provider about what to expect after your genetic test and counseling.

Additional information

The Genetic Information Nondiscrimination Act, or GINA, was passed in 2008 to prevent medical insurers from raising your rates or dropping your coverage based on genetic test results. It also prevents people from employment discrimination based on genetic testing.

Download our Answers by Heart Sheet: What is hATTR Amyloidosis? (PDF)