It’s been over three decades since genetic testing was first introduced as a tool for patients at risk of hereditary cancer syndromes. In its early days, genetic testing was expensive, time-consuming (often taking up to eight weeks for results) and offered limited impact on clinical management. Fast forward to 2026, genetic testing is now a routine part of cancer care. It’s more accessible, comprehensive and, perhaps most importantly, significantly impactful for patients and their families.
Physicians play a critical role in the early identification of patients who could benefit from genetic testing, especially when a personal or family history of cancer is evident. Incorporating genetic testing into the management of oncology patients can improve treatment outcomes, guide preventive care and provide vital information for the patient’s family.
Why Physicians Should Prioritize Genetic Testing
Genetic testing should be part of the routine evaluation of cancer patients, particularly in the early stages of their care. Here’s why:
1. Personalized Treatment Options
For patients with cancers like breast, ovarian, pancreatic and prostate, identifying genetic mutations (e.g., BRCA mutations) can open the door to personalized therapies, such as PARP inhibitors, which have shown promise in treating cancers associated with these mutations. The earlier in the diagnostic process the genetic test is ordered, the quicker the patient can be matched with appropriate treatments.
Additionally, knowledge of genetic mutations can guide surgical decisions. For example, patients with BRCA-positive breast cancer may be candidates for risk-reducing mastectomy or salpingo-oophorectomy, both of which can lower the risk of future cancers. These decisions are most effective when genetic results are available before surgery.
2. Identification of Additional Cancer Risks
Cancer does not always occur in isolation, especially in patients with hereditary cancer syndromes. For instance, patients with Lynch syndrome, a leading cause of colorectal cancer, are also at increased risk for uterine cancer up to 60%. If identified before a colon resection, this knowledge could allow a concurrent hysterectomy, minimizing the risk of a second cancer and optimizing care.
Beyond immediate cancer treatment, genetic testing can also lead to additional screenings that might otherwise be missed. For example, the ATM gene is a known contributor to prostate and breast cancer. But patients with an ATM gene mutation are also at elevated risk for pancreatic cancer, and while general population screening is not typically recommended, high-risk patients should begin annual imaging and/or endoscopic ultrasounds as early as age 50 or 10 years before the earliest known pancreatic cancer in their family.
3. Understanding the Cause of Cancer
One of the most common questions from patients newly diagnosed with cancer is, “Why did this happen to me?” While many cancers are the result of environmental factors, aging and sporadic mutations, genetic testing can offer a more definitive answer. For patients with hereditary cancer, knowing their cancer is genetically driven can help ease feelings of uncertainty and guilt. For many, this knowledge brings a sense of empowerment, as they now have the opportunity to make informed decisions regarding their treatment and potential preventive measures for the future. Patients are informed this hereditary cancer risk was present since birth, there was very little if anything the patient could have done differently throughout their life to prevent their diagnosis.
4. Informed Decisions for Family Members
A cancer diagnosis doesn’t only affect the patient it impacts their entire family. Once a genetic mutation is identified, relatives can undergo testing to assess their own cancer risk. This information can significantly alter cancer screening protocols for unaffected family members. For example, a female relative who is a carrier of a BRCA mutation may start mammograms and MRIs earlier, consider prophylactic oophorectomy or take chemopreventive medications such as tamoxifen.
When genetic testing starts with the affected patient, it provides actionable insights for their relatives, many of whom may have been unaware of their own genetic risks. Though delivering potentially distressing news to family members can be difficult, it’s important to remember that this information is a powerful tool for preventing future cancer diagnoses.
Testing the affected patient first is the most informative strategy for relatives. Cancer patients with negative genetic test results can receive reassurance that relatives are not at significant risk for the same fate. This can be very impactful for a patient already dealing with their own cancer treatment implications.
The Role of Genetic Counseling in Cancer Care
As genetic testing becomes more integrated into cancer treatment, the role of genetic counseling cannot be overstated. Genetic counselors provide the expertise necessary to interpret complex genetic results, discuss the implications for patients and their families and offer psychological support throughout the process. Genetic counseling not only helps patients make sense of their genetic test results but also provides them with the tools to make informed decisions about their health.
Moreover, counseling helps address the emotional and psychological aspects of genetic testing, from potential feelings of anxiety to guilt and even empowerment. Research shows that genetic counseling has a positive impact on patient knowledge, reduces anxiety and can improve overall psychological well-being during a cancer journey.
A Call to Action for Physicians
Genetic testing for patients with cancer is no longer experimental, rare or unattainable. It’s a standard of care for individuals who meet the National Comprehensive Cancer Network (NCCN) criteria for hereditary cancer syndromes. As medical providers, it is essential that you assess your patients cancer risk based on their family history and direct them to genetic counseling and testing when appropriate.
Not only does genetic testing enhance patient care and management, but it also offers a profound opportunity to impact the next generation of families, giving them the information needed to make informed decisions about their own health. By adopting a proactive approach, physicians can play a pivotal role in transforming cancer care through genetic testing.
Kimberly King-Spohn, MS GCG
Ms. King-Spohn is the Director of Genetics Services for Wellstar Health System. She oversees a team of 8 genetic counselors. She is a licensed, board-certified genetic counselor with over 25 years of clinical experience. Kimberly has provided genetic counseling to thousands of patients at risk for a hereditary cancer syndrome. She is also the current President of the Georgia Association of Genetic Counselors.
