Additional Advances in Genetic Counseling and Testing in Cancer Care With Filipa Lynce, MD, and Catherine Skefos, MA, MS, CGC

New Insights in Genetic Counseling

Catherine Skefos highlighted recent developments not covered in the original activity, particularly the growing role of RNA testing alongside DNA testing in cancer panels. “Although RNA testing is not going to make a difference for the vast majority of patients, it may help in certain situations,” she explained, especially when a patient’s DNA test reveals a variant of uncertain significance, such as a splice site variant. In these cases, Ms. Skefos recommends that clinicians consider contacting the testing laboratory to determine if RNA analysis could clarify the clinical relevance of the finding.

She also addressed the challenge of negative test results, advising clinicians to consider whether another family member’s testing might be more informative, and to utilize risk models like the Tyrer-Cuzick or Gail model for unaffected females. “Depending on when your patient had genetic testing, you can also consider updated testing for them,” Ms. Skefos noted, emphasizing that there is no set timeline for retesting, but rather a need to assess whether new panel genes could impact care.

Clinical Trial and Research Updates

Dr. Lynce provided updates on key clinical trials discussed in the activity. She shared new data from the OlympiA trial, which evaluated one year of olaparib, a PARP inhibitor, in patients with early-stage breast cancer and BRCA mutations. “At the median follow-up of 6.1 years, the results continue to show a benefit of those that took one year of olaparib compared to those that did not,” Dr. Lynce reported, citing a 28% reduction in risk. She emphasized the importance of genetic testing for all breast cancer patients to identify those eligible for this therapy.

Dr. Lynce also discussed the emergence of PARP1-selective inhibitors and the ongoing global phase 3 EvoPAR-Breast01 trial, which is comparing these agents with current standards of care. “If you have it around, if you’ve heard about this study, if have patients who might be eligible, check it out and have it in mind,” she advised.

Resources and Strategies

Ms. Skefos observed a recent trend of both patients and clinicians turning to social media for information about genetic testing, treatment, and personal experiences. “As clinicians, we need to keep our finger on that a little bit to be aware that patients are gathering a lot of information and may come to us with questions about specific trials or specific genes they heard about online,” she noted. She encourages openness to patient questions inspired by online content, recognizing social media as a valuable resource for rare conditions and emerging therapies.

Trends and Preparation

Both experts anticipate continued advances in PARP inhibitor research and the increasing use of liquid biopsies, which may reveal germline or somatic mutations with implications for treatment and family risk. “All providers should keep their genetics hat on, thinking about what the implications are for the family of each patient,” Dr. Lynce advised. Ms. Skefos added that clinicians should not hesitate to consult testing laboratories for clarification on complex results.

Why to Take This Activity

Both co-chairs strongly encouraged clinicians to take the activity to gain additional insights. Ms. Skefos emphasized, “This is information that is out there and that patients are becoming more and more aware of. Taking of an activity like this can help clinicians develop that baseline knowledge to be able to share with patients who likely have a lot of questions about things like inherited risk and how might this impact their family, their treatment, and their future risk.” She noted that the activity is a great introduction to both hereditary risk and the implications for treatment.

Dr. Lynce echoed this sentiment: “No matter what your role is, what you specialize in, or which pathology you see most often, it’s really hard to stay away from genetics, because that impacts what you do and the patients who you take care of in so many ways. The questions arise whether you take care of patients with breast cancer, prostate cancer, hematological malignancies. These questions will come, and I think that this activity is a great start to get deeper into these fields.”

Key Takeaways

• RNA testing can clarify uncertain DNA findings in select cases.
• Negative results warrant consideration of family testing, risk models, and updated panels.
• Long-term data support olaparib’s benefit in BRCA-mutated breast cancer.
• Social media is an emerging tool for patient and clinician education.
• Ongoing research and new testing modalities require clinicians to stay informed and proactive.

About the Speakers

Filipa Lynce, MD, of Dana-Farber Cancer Institute and the Center for BRCA and Related Genes, is the Director of the Inflammatory Breast Center and an Assistant Professor of Medicine at Harvard Medical School. She specializes in the treatment of inflammatory breast cancer, triple-negative breast cancer, and BRCA-associated breast cancers. Dr. Lynce’s research focuses on cancer genetics, health disparities, and the development of novel therapies for the treatment of breast cancer. She has been the recipient of several research awards, including a Young Investigator Award from the ASCO Conquer Cancer Foundation and an Institutional Research Grant from the American Cancer Society.

Catherine Skefos, MA, MS, CGC, is a Certified Genetic Counselor in the Clinical Cancer Genetics Program at the University of Texas, MD Anderson Cancer Center, where she provides cancer risk assessment and counseling to patients in the Endocrine Center. As a genetic counselor working with both pediatric and adult patients, she helps patients and family members understand and adapt to information about inherited cancer risk and genetic testing. Prior to becoming a genetic counselor, she received an MA in Medical Anthropology from the University of South Florida, where her research focused on healthcare access and health disparity. She has a special interest in teaching, particularly educating healthcare providers about the utility of genetic counseling and testing with the goal of improving patient access to genetic services.