Dr Plichta on Areas of Interest for Genetic Testing Research in Breast Cancer

Jennifer K. Plichta, MD, MS, associate professor, surgery, associate professor, population health sciences, member, director, Breast Risk Assessment Clinic, Duke Cancer Institute, discusses key areas of interest regarding the role and optimization of genetic testing in patients with a personal or family history of breast cancer.

An intriguing area of research in genetics is cascade testing, which involves screening family members of individuals who harbor genetic mutations associated with increased cancer susceptibility, Plichta begins. This approach could aid earlier detection of cancers and intervention by identifying individuals at increased risk of developing cancer before the onset of symptoms, she adds.

Despite the benefits of cascade testing, the widespread implementation of this approach faces several challenges, Plichta states. One limitation is the difficulty in reaching and engaging family members of individuals identified with cancer-predisposing genetic mutations, she says. This challenge arises from various factors, including privacy concerns, reluctance to share genetic information, and logistical barriers to accessing health care services, Plichta explains. Researchers are exploring various strategies to enhance cascade testing uptake and participation, including approaches that remove the patient from the process to address concerns about privacy and encourage participation among relatives, Plichta notes. By directly engaging family members and offering genetic testing without involving the index patient, this approach may encourage more relatives to participate in cascade testing.

Another critical aspect of genetic testing research involves addressing disparities in access and uptake, particularly among underserved populations, Plichta continues. Studies have highlighted disparities in who receives genetic testing, raising concerns about equitable access to potentially life-saving interventions. Understanding the reasons behind these disparities and developing strategies to address them is crucial, especially as targeted therapies tailored to specific genetic mutations become increasingly available, Plichta emphasizes. Without widespread genetic testing, individuals with actionable mutations may miss out on targeted treatments that could improve their outcomes, she adds.

As research in genetic testing continues to evolve, it is essential to stay informed about advancements and emerging strategies aimed at improving access, uptake, and equity in this field. By addressing barriers and disparities, researchers aim to ensure that all individuals who could benefit from genetic testing have access to this valuable tool in cancer prevention and treatment, Plichta concludes.