Talking to your family about Lynch syndrome
When talking with family members about Lynch syndrome and genetic testing, consider how sharing can allow for personalized, proactive medical care.
Discussing cancer and genetic risk in a family can be challenging. It’s not uncommon for people to have concerns about raising worry in relatives or feeling guilty about passing on a genetic condition like Lynch syndrome—one of the most common causes of hereditary cancer risk.
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 health care in general.
Genetic counselors believe it’s important to help people reframe risk information.
- Think about genetic testing for Lynch syndrome as a way to better identify who in a family is at risk... or not.
- Keep in mind you are providing necessary tools to reduce or manage cancer risk.
- Although difficult, focus on the fact that these discussions could be life-saving.
When and how to start the conversation
After a new diagnosis of Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome (HNPCC) and Muir-Torre 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 friend or family member who is not biologically related and therefore not at risk themselves. If additional support is needed, connecting with a genetic counselor, a mental health provider, or a peer support person via an advocacy organization 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. This cancer screening has been shown to help lower the odds for colon cancer or help detect it 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 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, experts recommend they meet with a genetics professional to learn more.
They may be advised to start closer monitoring for cancer by getting colonoscopies until they decide to pursue genetic testing. Often, people ultimately decide to have genetic testing to confirm whether they have Lynch syndrome, preferring to avoid unnecessary colonoscopies if genetic testing can show they did not inherit the condition.
When to test children
If a child’s medical care will not be impacted by the genetic condition, several professional societies advise waiting until after age 18 to pursue genetic testing for adult-onset conditions. 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 and 25. For people with MSH6 or PMS2 pathogenic variants, current recommendations include colonoscopy starting between ages 30 and 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 at the appropriate 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.