By Natalie Scheidel
For many families, a cancer diagnosis feels sudden, unexpected, devastating, and without warning. But for some, the risk was there all along, written quietly into their DNA. The tragedy is not just the disease itself but how often it goes undetected until it is too late.
At the Krishnan Family Foundation, we have seen this pattern again and again: families who only learn about hereditary cancer risk after multiple diagnoses, parents who wish they had known sooner, and children facing aggressive cancers that might have been anticipated. Genetic testing has the power to interrupt this cycle. But, only if it happens early.
One of the clearest examples is Lynch syndrome, the most common inherited cancer syndrome. It affects about 1 in 279 people, yet up to 95 percent of those individuals do not know they have it. That means millions of people are living with a significantly increased cancer risk without any awareness. Lynch syndrome raises the likelihood of colorectal, endometrial, and other cancers, but it is also one of the few risks that can be identified in advance. With genetic testing, individuals can begin earlier and more frequent screenings, often catching cancer at a treatable stage or preventing it altogether. Still, many only discover it after a diagnosis, when the opportunity for prevention has already been lost.
Because Lynch syndrome is inherited, the implications extend beyond one person. Each child of a parent with Lynch syndrome has a 50 percent chance of inheriting the same mutation. Without testing, that risk moves silently through families, generation after generation. With testing, it can be identified, monitored, and managed.
In rare but devastating cases, when a child inherits mutations from both parents, the result is Constitutional Mismatch Repair Deficiency.
Children with CMMRD face an extremely high risk of developing multiple cancers at a young age, often before there has been any indication of risk. For these families, the question is not just what happened, but whether it could have been known sooner. Genetic testing is often the only way to answer that question before a diagnosis, allowing for earlier surveillance and more informed care.
There is a common misconception that genetic testing is something done after cancer appears, to explain what has already happened. In reality, its greatest value lies before anything happens at all. It is not just a tool for detection. It is a tool for prevention. It allows individuals to understand their risk, take action early, and inform family members who may also be affected.
“Genetic testing allows medicine to be proactive instead of reactive. When cancer risk is identified before disease develops, the patient’s medical team can act on that information through dedicated surveillance, such as routine MRI, or emerging early‑detection tools like blood draws for circulating tumor DNA. For conditions like Constitutional Mismatch Repair Deficiency (CMMRD), early identification can mean the difference between intercepting or treating cancer at its earliest stage, instead of facing the more complex circumstances of a late‑stage diagnosis.”
– Lucie Stengs, Clinical Research Project Manager
The reality is difficult but clear: most people with Lynch syndrome do not know they have it, and many only find out after cancer has already entered their lives. This is not because the science is not there. The tools already exist. What is missing is awareness and urgency.
Genetic testing changes the timeline. It shifts the moment of discovery from crisis to prevention. It gives families information they can act on, rather than answers they receive too late.
At the Krishnan Family Foundation, our mission is rooted in this belief: that no family should have to learn about hereditary cancer risk only after it has already caused harm.
Because behind every statistic is a person.
Behind every diagnosis is a family.
And behind every missed opportunity for testing is a future that could have been different.
Genetic testing does not just reveal risk; it gives families the chance to change their story.
Get genetic testing now.
If you or your family may be at risk, taking this step could provide clarity, guide prevention, and protect future generations.
Genetic counselors are specialized healthcare professionals trained in both medical genetics and counseling. They help individuals and families understand how inherited conditions may affect them, interpret test results, and guide next steps before or after testing. The National Society of Genetic Counselors offers a searchable directory of more than 3,300 genetic counselors across the United States and Canada, allowing you to find support by location, specialty, or telehealth options.
Find a genetic counselor and take the first step today:
Works Cited:
American Society of Clinical Oncology. (n.d.). Genetic testing for cancer risk. Retrieved from https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetic-testing-cancer-risk
Centers for Disease Control and Prevention. (2023). Lynch syndrome (hereditary colorectal cancer). Retrieved from https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm
MedlinePlus Genetics. (n.d.). Constitutional mismatch repair deficiency syndrome. U.S. National Library of Medicine. Retrieved from https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome/
National Society of Genetic Counselors. (n.d.). Find a genetic counselor. Retrieved from https://findageneticcounselor.nsgc.org/
Wimmer, K., & Kratz, C. P. (2010). Constitutional mismatch repair-deficiency syndrome. Orphanet Journal of Rare Diseases, 5(1), 5. https://doi.org/10.1186/1750-1172-5-5
