Genetic Risk: A Patient’s Perspective on Testing

07/15/2026

Written by Catherine DiMare-D’Souza, MS, IPAM, CMPP^TM

Twenty years ago, hereditary breast and ovarian cancer (HBOC) wasn’t even mentioned during my routine women’s health appointments. It was only by chance that a nurse practitioner shared with me her family’s history of breast cancer and its link to a mutation in a gene called BRCA, which is now very familiar to most people. Because my paternal grandmother and her two sisters died from breast cancer at an early age, the conversation made me question whether there could be a hereditary element to breast cancer in my own family.

When a lack of family history is NOT the same as NO family history

However, I faced an immediate hurdle. There were no other cancers in my family since their deaths. Although my grandmother died at age 44, her breast cancer in 1959 was always considered environmental. After her, two of her three sisters passed from breast cancer at ages 53 and 66, and none of their descendants have had cancer since then. This lack of visible history has made HBOC in my family seem unlikely. In addition, because many physicians at that time did not recognize that breast cancer risk could be inherited from a father, any possible risk to me was also easily dismissed. Thankfully, our understanding has evolved.

Family history can hide a hereditary risk

Despite progress and increased availability of risk assessment tools and HBOC testing, current family history assessments miss as many as 30% of women carrying a HBOC mutation (Fergus et al., 2026). From my perspective, current HBOC risk assessment tools tend to focus on traditional female cancers like breast and ovarian, but do not ask about the paternal history and other family cancers such as prostate, pancreatic, or even multiple myeloma that may also signal hereditary risk in a family. Even now, most of these tools either fail to recommend me for testing or place me in a very low-risk category.

I often wonder what my future might have looked like if I had not pushed for testing. Not all women would ask for testing like I did. I became the first in my family to undergo testing and, through what feels like chance, I remain the only descendant of those three women to carry a BRCA mutation. As the secondary analysis of the WISDOM study recently confirmed, other women like me are still being overlooked because family history alone is not enough (Shieh et al., 2026). Without genetic testing, most of the women who had a mutation would not have been recommended for additional screening based on clinical risk models and polygenic risk scores alone. And since there are more people carrying mutations in cancer susceptibility genes than previously thought (Idumah et al., 2025), this means that there are many women like me who are still unaware of their cancer risk. Families like mine may appear unaffected yet still carry inherited risk that goes undetected due to small family size, limited documentation, or atypical inheritance patterns.

New testing guidelines: Capturing more at-risk cancer patients

There is so much room for improvement since genetic testing for patients with breast and ovarian cancer is still underutilized, with estimates that only around 7% of eligible patients with common cancers have had testing (Kurian et al., 2023; Lemert et al., 2026). I am hopeful that testing will be a part of every cancer diagnosis as the NCCN and ASCO guidelines move us towards mainstream genetic testing for all cancer patients under age 65. Like me, those who do not have the obvious family history for cancer are left unaware that a genetic test could change their treatment choices (Yadav et al., 2025). Because patients look to their physicians for all aspects of their diagnosis, they trust that genetic testing would be ordered by their treating physician if needed. Ongoing research is showing that with more provider education, patient-facing resources, and EMR-based reminders, it is possible to increase the number of cancer patients who receive genetic testing (Sabin et al., 2026).

Communicating hereditary risk: How research helps patients

Research into improving processes like cascade testing is critical for risk-detection. Although genetic counselors are more often involved in communicating risk to family members than oncologists or surgeons, there is still limited support in getting risk information out to family members (Kurian et al., 2026). Patients and families can face apathy, rejection and even hostility when trying to share their family’s risk. It is reassuring to see how new digital approaches to this communication using chatbots and online cascade testing platforms might help patients inform their at-risk relatives in the future (Caswell-Jin et al., 2026; Rivera et al., 2026).

There is also still a significant number of patients who are unwilling to test. In fact, even among at‑risk family members who already know about their hereditary cancer variant, only about 25–33% of complete cascade testing (Frey et al., 2022). As I learned, not everyone in a family is open to the idea of knowing about a cancer risk. While factors such as lack of awareness, access, and provider recommendations contribute to these low testing rates, genetical counselors know very well that emotional barriers also play an important role. For some, the long-term emotional stress and the tough, on-going life-changing decisions due to knowing their genetic predisposition can sometimes outweigh the perceived benefit (Epstein et al., 2026). Brandie Heald Leach, a genetic counselor and Sr. Principal Medical Affairs Director, Precision Oncology for Abbott says, “It is completely normal to feel anxious about learning you may have an increased risk of cancer, but that information is powerful: it gives you and your care team the chance to plan extra screening and consider risk‑reducing strategies that can help protect your health.”

As one family member told me, “Every day I wake up healthy is a good day.” Not knowing sometimes feels safer than mentally wrestling with a possible future of uncertainty. But as research continues to progress, I am hopeful that more awareness of genetic testing benefits will help to ease those fears and close the gaps in identifying who is at risk, ensuring that everyone has the opportunity to make well-informed decisions about their health.

Citations

Caswell-Jin, J. L., Hodan, R., Rios-Ventura, S., Donahue, J., Sharma, A., Zhang, A., An, L. C., Katz, S. J., & Kurian, A. W. (2026). Clinical implementation of an online family cascade genetic testing platform: The Preventive Risk Outreach and Cascade Testing (PROACT) initiative. Journal of Clinical Oncology, 44(16_suppl), 10609. https://doi.org/10.1200/jco.2026.44.16_suppl.10609

Epstein, E. S., Friedman, S., Sharaf, R. N., & Frey, M. K. (2026). Addressing the psychosocial gap in Hereditary cancer care: The case for Genetic Social Work. JCO Oncology Practice, OP2600307. https://doi.org/10.1200/op-26-00307

Fergus, K. B., Ross, K. S., Scheuner, M. T., Blanco, A. M., Tice, J. A., Ziv, E., Shieh, Y., Van ‘T Veer, L., Olopade, O. I., Goodman, D. L., Tong, B. S., Harvey, H., DeRosa, D., Risty, L., Silver, E., Kaster, A., Fiscalini, A. S., Blum, K., Heise, R., . . . Madlensky, L. (2025). Germline pathogenic variants among women without a history of breast cancer. JAMA Internal Medicine, 186(3), 344. https://doi.org/10.1001/jamainternmed.2025.7323

Frey, M. K., Ahsan, M. D., Bergeron, H., Lin, J., Li, X., Fowlkes, R. K., Narayan, P., Nitecki, R., Rauh-Hain, J. A., Moss, H. A., Nelson, B. B., Thomas, C., Christos, P. J., Hamilton, J. G., Chapman-Davis, E., Cantillo, E., Holcomb, K., Kurian, A. W., Lipkin, S., . . . Sharaf, R. N. (2022). Cascade Testing for Hereditary cancer syndromes: Should we move toward Direct Relative Contact? A Systematic Review and Meta-Analysis. Journal of Clinical Oncology, 40(35), 4129–4143. https://doi.org/10.1200/jco.22.00303

Idumah, G., Newell, D., Hadrys, M., Ribaudo, I., Ni, Y., & Arbesman, J. (2025). Pathogenic germline variants in cancer susceptibility genes. JAMA, 334(19), 1765. https://doi.org/10.1001/jama.2025.16372

Kurian, A. W., Abrahamse, P., Furgal, A., Ward, K. C., Hamilton, A. S., Hodan, R., Tocco, R., Liu, L., Berek, J. S., Hoang, L., Yussuf, A., Susswein, L., Esplin, E. D., Slavin, T. P., Gomez, S. L., Hofer, T. P., & Katz, S. J. (2023). Germline genetic testing after cancer diagnosis. JAMA, 330(1), 43. https://doi.org/10.1001/jama.2023.9526

Kurian, A. W., Abrahamse, P., Furgal, A., Veenstra, C. M., Courser, R. R., Hofer, T. P., Hodan, R., Caswell-Jin, J. L., Gomez, S. L., Ward, K. C., Hamilton, A. S., Liu, L., An, L. C., & Katz, S. J. (2026). Communication with clinicians and relatives about cascade genetic testing in cancer patients with germline pathogenic variants. JCO Precision Oncology, 10(6), e2600041. https://doi.org/10.1200/po-26-00041

Lemert, P., Chen, H., Shreenivas, A., Eaves, K., & Kurzrock, R. (2026). Universal Germline Genetic Testing in a Precision Oncology and Rare Cancer Clinic: Implementation and Outcomes. JCO Oncology Advances., 3(2). https://doi.org/10.1200/oa-25-00226

Rivera, L. B. D., Mitchell, L., Ahsan, M. D., Chandler, I., Epstein, E. S., Borsato, E. P., Allen, C., Kaphingst, K. A., Bradshaw, R. L., Del Fiol, G., Kawamoto, K., Madeo, A. C., Sharaf, R. N., & Frey, M. K. (2026). Cascade Chatbot: A scalable approach to Family-Based Genetic Testing for Hereditary Cancer Syndromes. JCO Clinical Cancer Informatics, 10(1), e2500321. https://doi.org/10.1200/cci-25-00321

Sabin, S., Justo, E., MacIntyre, J., Perez, B., Hernandez, A., Manso, G., Abrams, N., Borja, N., Tekin, M., & Calfa, C. J. (2026). Improving germline genetic testing rates among newly diagnosed breast cancer patients. Journal of Clinical Oncology, 44(16_suppl). https://doi.org/10.1200/jco.2026.44.16_suppl.e22645

Shieh, Y., Heise, R. S., Madlensky, L., Sabacan, L. P., Soto, I. A., Fiscalini, A. S., Ross, K., Goodman, D., Blanco, A., Brain, S., Heditsian, D. M., Moya, J., Fergus, K. B., Olopade, O. I., Scheuner, M. T., Eklund, M., Ziv, E., Tice, J. A., Van ‘T Veer, L., . . . Ve’e, T. (2026). Impact of Population-Based Pathogenic variant testing on Risk-Based breast Screening Recommendations. JAMA Oncology. https://doi.org/10.1001/jamaoncol.2026.2091

Yadav, S., Couch, F. J., Hillman, S., Luo, L., Li, W., Li, Q., Hayes, J. F., Earla, J. R., & Xu, X. (2025). Real-World Germline BRCA testing, Poly(ADP-ribose) polymerase inhibitor utilization, and survival outcomes in human epidermal growth factor receptor 2–Negative metastatic breast cancer. JCO Precision Oncology, 9(9), e2400814. https://doi.org/10.1200/po-24-00814