The Big Reveal: Telling Your Family You Have a Genetic Disease

Health Writer

Maybe you were diagnosed with a genetic disease or maybe you found out through genetic testing that you are at risk of a certain disease because of your gene formation. What do you do with this information? Sure, it will help in making personal medical decisions but it could also potentially affect your family. If you have a genetic gene marker for this disease, they could too.

Understanding the risk

When you are first told about a genetic marker for a specific disease, it is important to talk to your genetic counselor about your risk. Genetic markers, or mutated genes, don’t tell the whole story. Your genes are just one factor. Most diseases, according to the U.S. National Library of Medicine develop because of a combination of genes, environment, and lifestyle. That’s why everyone in a family, even if they share a common genetic marker doesn’t develop the same disease. It’s also why genetic diseases tend to run in families — many families share not only genes but a geographic area and similar lifestyles. Having a family history or shared gene mutation doesn’t guarantee you will develop a disease, but it does increase your risk factors.

Genetic testing is one way to help determine if family members have an increased risk of developing a particular condition. It helps spot potential problems for diseases caused by gene mutations, such as sickle cell disease, cystic fibrosis, and some forms of breast cancer.

The U.S. National Library of Medicine suggests also completing a family medical history. This history should ideally span three generations and include health information for yourself, children, parents, grandparents, siblings, aunts, uncles, cousins, nieces, and nephews. This type of medical history gives you a clear idea of what health conditions are common in your family, such as heart disease, high blood pressure, stroke, diabetes, and certain cancers. When used together with genetic testing you can more accurately develop a risk assessment and a plan for better health for you and your family members.

Talking to your family

It’s important to consider the reasons you are sharing this information. Will you need physical and emotional support? Do you expect family members to hear the news and step up to offer that support? Or are you sharing to provide them with information they might need to make the best health decisions for themselves? Often, people share genetic information for a combination of these reasons. They want their relatives to understand their risk factors and take appropriate steps to ensure their health, but if they are facing a life-altering diagnosis, family support is essential.

The next step in talking to your family is to decide on the practical matters. Who do you tell? Just immediate family or the whole clan? Do you talk to a few people first or bring everyone together? Should you tell a few people and let the news ripple out from there? There are no right or wrong answers. Much of this depends on your own family dynamics and what makes you most comfortable. If you are dealing with a potentially debilitating diagnosis, you must also consider your own emotional and physical well-being. What are you emotionally capable of handling?

Knowing with whom and why you are sharing information helps you gather the needed information and resources. When you do share the news of your genetic disease, you will be able to provide basic information and also point people in the right direction to find out more or have genetic testing done for themselves.

Tips for talking to your family

The website Genes in Life created by the Genetic Alliance, a health advocacy organization, offers some tips on talking with your family.

  • Talk with a genetic counselor before talking to your family. Work with the counselor in identifying who in your family is most at risk and what type of information would be most beneficial for them.

  • Always consider your own emotional and physical health. If there are dangerous or awkward family dynamics, take appropriate steps to protect yourself. If needed, have a trusted person share information with these family members instead of talking with them directly.

  • Know the early warning signs and symptoms of the specific genetic disorder. Share these with your family members. Many genetic diseases don’t have symptoms until they are in advanced stages. If this is true, let your family members know.

  • Explain how the diagnosis or condition will affect your daily life and your future. If you need support, ask for it.

  • Create a list of resources including specialists, genetic testing services, websites, brochures, and other information that you found helpful.

  • Decide if you want to be available for further discussion or questions with your family members. If so, make sure they have a way to reach you directly. If you are being treated for a medical condition, let your relatives know when the best time to reach you is.

  • Remember, you get to decide you much or how little information to share. No one can force you to discuss aspects of your condition that you would like to have remain private.

  • Understand that different people will have different reactions. Some will want to know a great deal of information. Some might avoid the topic and refuse to consider genetic testing. Your goal is to share information. You cannot control how other people react to the information.

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