Discussing cancer and genetic risk in a family can be challenging. It's not uncommon to hear concerns for causing worry in relatives and parental guilt about passing on a genetic condition such as Lynch syndrome. These concerns are layered over existing family dynamics and communication styles, as well as cultural background, religious beliefs and a family's experiences with cancer, caregiving and healthcare in general.

Genetic counselors believe it's important to help people reframe genetic risk information. In terms of, thinking about genetic testing for Lynch syndrome as a way to better identify who in a family is at-risk (or not). To provide the necessary tools to reduce or manage cancer risk. Although difficult, these discussions could be life-saving.

When and How to Start the Conversation

After a new diagnosis of Lynch syndrome, a person may need time to adjust to the news before feeling ready to share with relatives. It may be helpful to discuss first with a trusted support person (a spouse, a friend) who is not themselves at-risk (i.e., not biologically related). If additional support is needed, connecting with your genetic counselor, a mental health provider, or a peer support person via an advocacy organization (resources below) may be helpful.

When talking with family members, consider sharing how learning about Lynch syndrome can allow for personalized, proactive medical care. Cancer risks are higher in Lynch syndrome, but there are steps a person can take to reduce those risks and help protect one's health.

In other words, genetic testing for Lynch syndrome can help determine when and how often a person should have a colonoscopy, which has been shown to help lower odds for colon cancer or to help detect colon cancer at earlier, more treatable stages. Additionally, for people with cancer, an oncologist may advise certain treatments if a diagnosis of Lynch syndrome is known, since these options may be more effective.

It's also natural that these conversations may take time and may need to occur more than once. Learning about and managing a new genetic diagnosis is a process, and it's different for each person and family depending on their own experiences with cancer.

If a family member isn't ready to pursue genetic testing – that's ok. However, if they are at-risk for Lynch syndrome, it is recommended they meet with a genetics professional to learn more. They may be advised to start closer monitoring for cancer (e.g. colonoscopy) until they decide to pursue genetic testing. Often, many people ultimately decide to have genetic testing to confirm whether they have Lynch syndrome, since this allows a person to avoid unnecessary colonoscopies if genetic testing can show they did not inherit the condition.

When to Test Children

Multiple professional societies advise waiting until after age 18 to pursue genetic testing for adult-onset conditions (i.e., if the child's medical care will not be impacted by the genetic condition). Genetic counselors are still happy to speak with a family if questions arise that can be addressed.

Genetic testing for Lynch syndrome will impact medical care when decisions about colonoscopy need to occur.

Currently, people with pathogenic variants in MLH1, MSH2 and EPCAM are advised to start colonoscopy screening between the ages of 20-25. For people with MSH6 or PMS2 pathogenic variants, current recommendations include colonoscopy starting at 30-35. It is important to check in with your genetics provider periodically, as these recommendations may change in time.

Some young adults wish to pursue genetic counseling and testing sooner, in order to know the information for the future or for family planning purposes. Very rarely, a childhood condition called Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) can arise if both parents have Lynch syndrome due to a pathogenic variant in the same gene. Meeting with a genetic counselor when considering a pregnancy can help determine if this is a concern. Other young adults may prefer to defer genetic testing for Lynch syndrome while they focus on school, new jobs and relationships, later returning for genetic testing when it's time

The genetic counselors and physicians of the Penn Medicine Gastrointestinal Cancer Genetics Program are dedicated to helping patients and families with Lynch syndrome navigate this information and the genetic testing process. To learn more, visit Gastrointestinal Cancer Genetics Program.