Guest blog: Genetic Counselor Katie discusses important considerations when testing for a Telomere Biology Disorder

Katie Bergstrom, a Genetic Counselor based in Seattle, kindly shares a guest blog discussing some important considerations for both individuals and families when testing for Telomere Biology Disorders.

Telomere biology disorders (TBDs) are hereditary conditions characterized by disorders related to telomere maintenance. You can learn more about TBDs in this dedicated blog. TBDs can be diagnosed in conjunction with a healthcare provider through telomere length measurement (learn more about Flow FISH telomere testing here) or genetic testing, and often both.

Because TBDs are hereditary, when an individual in a family is diagnosed with a TBD it has implications for their own healthcare and also implications for their family members and their healthcare. Just because one individual in a family has a TBD, it does not mean everyone in the family has it. Sometimes mutations in the genes that cause TBDs occur by chance for the first time in an individual, sometimes these mutations are passed down through generations.

After the first person in the family is diagnosed with a TBD, family members then have a choice of whether they wish to pursue their own testing and evaluation. Testing may not be appropriate or recommended for all members of the family, and thus it should be discussed with a healthcare provider familiar with TBDs and genetics. Your healthcare provider can help you identify who in the family may benefit from evaluation and the ideal approach to testing, which may vary depending on the testing that has already been done.

Before pursuing testing (telomere or genetic) individuals may wish to consider the following:

• What are the benefits and limitations of testing, including what it means for your own healthcare as well as that of your family members. For example, even if you are identified to have a TBD, testing cannot identify exactly which symptoms of a TBD you may develop. Also, if an individual has not yet had children, due to the hereditary nature of TBDs, the test results may impact how they plan for children or whether you adjust your insurance policies.
• How you handle uncertainty and risk. Some individuals feel empowered by information, and may actively seek it, such as doing research online. Others may avoid pursuing action and seeking information because of feelings of fear. It will be important to recognize how you feel and identify healthy strategies to address those feelings and approach your decision-making.
• Practical logistics of how the test is done, by whom, how much it costs, and how long it will take to receive results.

After receiving results it is normal to:

• Experience feelings of denial, guilt, shame, and blame if the test confirms a TBD. Even though it is not your fault if you passed on a mutation causing a TBD, it is normal to feel guilty, or experience feelings of blame if you found out you inherited a mutation. It is also normal to feel relieved to have a more definitive answer.
• Wonder exactly what it means for you, as individuals even within a family may experience different types of symptoms. Talk with your healthcare provider about their specific recommendations for your care.
• Experience shifts in familial relationships. Individuals in a family may make different choices regarding whether to pursue testing, and if they do pursue testing, may handle the results differently. It is very common for individuals in a family to experience feelings of guilt or a sense of a loss of identity within the family if they do not inherit a TBD but other family members do. Or two family members with the same TBD may approach their own healthcare differently and experience different feelings. It is important to recognize that everyone’s feelings and attitudes are their own.

Individuals or families may wish to speak with a counselor to navigate decision-making and feelings before, during, and after testing.

You can speak to your primary care provider for information on how to find a specialist familiar with TBDs, and you can check the following organizations to find a genetic counselor locally: National Society of Genetic Counselors (US) and Canadian Association of Genetic Counsellors (Canada).

For additional information and resources on Telomere Biology Disorders, and telomere length testing, take a look at the RepeatDx blog.   

This blog was developed in partnership with Team Telomere. Team Telomere is a global community focused on supporting families in their battle with dyskeratosis congenita and related Telomere Biology Disorders.