Lynch syndrome can be challenging to diagnose with DNA sequencing and, unfortunately, inconclusive results are common. Here’s what you need to know.
Genetic testing offers valuable insights into our genetic makeup and predispositions to certain health conditions, playing a crucial role in early detection and preventive care for specific illnesses. However, Lynch syndrome, a hereditary condition associated with an increased risk of colorectal and other cancers, can still be challenging to diagnose. In fact, only 35% of Lynch syndrome cases are confirmed through DNA sequencing. This complexity can lead to uncertainty, particularly when genetic testing results come back inconclusive.
Receiving inconclusive results from genetic testing can be frustrating and leave you with more questions than answers, wondering if the test was inaccurate or there was a mistake in the analysis. Unfortunately, inconclusive results are relatively common when it comes to Lynch syndrome. So, now what? In this blog post, we’ll explore what it means to receive inconclusive results from genetic testing for Lynch syndrome and four steps you can take next.
Why are my test results inconclusive?
There are several reasons why genetic testing results may come back inconclusive. It could be due to technical limitations in the testing process, variations in the genes being analyzed, or the presence of genetic mutations that are not well understood or characterized. The important thing now is to explore what options are available to get more clarity.
#1 – Consult with a genetic counselor
One of the first steps you should take after receiving inconclusive genetic testing results is to schedule a consultation with a genetic counselor. Genetic counselors are trained professionals who specialize in interpreting genetic test results and providing guidance based on individual circumstances.
During your consultation, the genetic counselor will review your test results in detail, explaining any genetic variations or findings that contributed to the inconclusive result. They will also take into account your personal and family medical history to provide a comprehensive assessment of your Lynch syndrome risk, so it’s a good idea to have that information at hand during the appointment.
#2 – Consider repeating the test
In some cases, inconclusive results from genetic testing may be due to technical limitations or uncertainties in the testing process. Repeating the test using a different method or at a later time may provide additional clarity and potentially yield more conclusive results.
Before deciding to repeat the test, it’s essential to consult with your healthcare provider and genetic counselor to discuss the rationale and implications. They can help you evaluate whether repeating the test is appropriate based on factors such as your medical history, family history and the specific genetic variants being tested.
#3 – Start early cancer detection screening
In addition to genetic testing, there are other screening options available that can help assess your cancer risk and detect any potential abnormalities early on. These screening methods are crucial for monitoring your health and detecting cancer at its earliest stages when it’s most treatable. Consider the following options:
Colonoscopies: Colonoscopies allow healthcare providers to examine the colon and rectum for any signs of abnormal growths or polyps. They are recommended starting at a younger age and performed more frequently for individuals with Lynch syndrome due to their increased risk of colorectal cancer.
Other imaging tests: Other imaging tests such as endoscopies, MRI scans and ultrasounds may be recommended based on your individual risk factors and medical history. These tests can help evaluate other organs and tissues that may be affected by Lynch syndrome-associated cancers, such as the uterus, ovaries and stomach.
It’s essential to discuss these screening options with your healthcare provider and genetic counselor to develop a personalized screening plan tailored to your specific needs and risk factors. They can help you understand the benefits and limitations of each screening method and determine the appropriate frequency and timing for screenings based on your Lynch syndrome risk profile.
#4 – Focus on Prevention
Regardless of the genetic testing results, focusing on preventive measures is essential for managing Lynch syndrome and reducing your risk of developing associated cancers. While genetic testing provides valuable insights into your genetic predispositions, it’s just one aspect of Lynch syndrome management. Here are some key preventive measures to consider:
Regularly scheduled screenings: As mentioned above, colonoscopies, endoscopies and other imaging tests are essential for early detection of Lynch syndrome-associated cancers. If you’re at risk for Lynch syndrome, it’s imperative that you schedule regular screenings like these to ensure early detection and prevention. These screenings allow healthcare providers to monitor for any signs of abnormalities or cancerous growths and intervene promptly if necessary. Talk to your doctor about how often you should undergo these screenings.
Staying informed: Educating yourself about Lynch syndrome and staying informed are crucial steps in preventing the illness and maintaining overall health. By understanding the genetic basis, potential symptoms and recommended screening protocols, you’ll be empowered to make informed decisions, catch potential issues early and improve health outcomes.
Family communication and support: Communicate with your family members about your genetic testing results and encourage them to undergo genetic testing and screening if appropriate. This can help identify other family members at risk and guide them in taking proactive steps to manage their health.
Remember that you’re not alone – support is always available. Talking with a mental health professional can be helpful as you navigate your emotions. Also, consider joining support groups for individuals and families dealing with Lynch syndrome or hereditary cancers.Some groups and events you can potentially join are:
Conclusion
Receiving inconclusive results from genetic testing for Lynch syndrome can be unsettling, but it’s essential to remember that this is just one piece of the puzzle. By consulting with a genetic counselor, exploring alternative screening options and focusing on preventive measures, you can take control and make informed decisions about your health.