My family member has just been diagnosed with Lynch syndrome. Now what?

#1 – Know your risk

Lynch syndrome is a hereditary condition linked to an increased risk of developing various cancers, including colorectal and endometrial cancers. If someone in your family has tested positive for LS, you should get tested. 

For a full picture of your risk, your healthcare provider will likely inquire about your family’s medical history, particularly instances of colorectal, endometrial, ovarian, and other Lynch syndrome-associated cancers. 

Make sure you’re familiar with your family’s medical history so that when you talk to your healthcare provider, you have the necessary information at hand.

#2 – Get tested 

Initiate a conversation with your healthcare provider about getting tested for Lynch syndrome. Your healthcare provider can offer guidance tailored to your medical history, family background, and individual risk factors. 

Thanks to advanced technology and years of research, there are many ways to get tested for Lynch syndrome: 

• Immunohistochemistry (IHC): A technique used in histology (the study of tissues) to visualize the presence, localization and often the abundance of specific proteins or antigens in cells of a tissue section.

• Microsatellite instability (MSI): This type of testing examines tumor DNA for alterations in repetitive DNA sequences using tumor tissue, so it’s only relevant for patients with cancer. It acts as a screening test to determine whether further testing may be indicated.

• DNA sequencing: Determines the order of nucleotides in a DNA molecule to identify alterations in the genes associated with Lynch syndrome. This type of testing is used to confirm Lynch syndrome after IHC or MSI testing, but it also can be used to test healthy tissue from family members that do not have cancer. 

• MMR deficiency test: Assesses the function of DNA mismatch repair proteins to detect deficiency, which indicates Lynch syndrome. It is conducted on healthy tissue and is thought to provide higher fidelity results. 

#3 – Schedule regular screenings 

Regular screenings are essential for family members of those who have Lynch syndrome. This is due to the elevated risk of developing certain types of cancer. These screenings aim to detect cancer at an early stage when it is most treatable and to identify precancerous tissue for timely intervention.

Be sure to talk to your healthcare provider about incorporating regular screenings into your healthcare regimen. Some common screening tests that your healthcare provider may recommend include:

• Colorectal cancer screening: Colorectal cancer screening typically involves colonoscopies, which allow for the visualization of the entire colon and rectum to detect polyps or abnormal growths. Your healthcare provider will provide guidance on the appropriate timing and frequency of colonoscopies based on your risk profile.

• Endometrial cancer screening: Endometrial cancer screening involves regular ultrasounds or endometrial biopsies to detect any abnormalities in the lining of the uterus. Like colorectal cancer screening, individuals at risk for Lynch syndrome may need to initiate endometrial cancer screening at an earlier age and undergo more frequent evaluations.

#4 – Seek emotional support

Waiting for test results and coping with the implications of a positive result can be emotionally challenging. This journey is often accompanied by a range of feelings, including anxiety, fear, uncertainty, and even grief. Here’s why seeking emotional support is crucial and how various sources can provide assistance:

• Friends and family: Lean on your friends and family for emotional support during this challenging time. Sharing your feelings and concerns with loved ones can provide comfort, reassurance, and a sense of belonging. They can offer a listening ear, practical assistance, and unconditional love as you navigate the complexities of Lynch syndrome testing and its implications.

• Support groups: Joining a support group specifically for individuals affected by Lynch syndrome or hereditary cancer conditions can be immensely beneficial. These groups provide a safe space to connect with others who understand your experiences firsthand. Sharing stories, insights, and coping strategies with fellow group members can foster a sense of community, reduce feelings of isolation, and offer valuable perspective and encouragement.

• Mental health professionals: Consider seeking support from a mental health professional, such as a therapist or counselor, who specializes in working with individuals facing genetic testing and hereditary cancer concerns. A trained professional can help you explore and process your emotions, develop coping strategies, and navigate the psychological impact of Lynch syndrome testing results in a supportive and non-judgmental environment.

#5 – Stay informed

As the family member of someone who has Lynch syndrome, it’s important to stay informed about this condition and share your findings with your other family members. 

There are Lynch syndrome diagnostics experts who write and publish research and helpful resources for those who have and are at risk for Lynch syndrome. This is an active community of researchers, survivors, and advocates that want to help you stay informed and connected.