Empowering caregivers, enhancing communication, and embracing AI: Key insights from the NSGC annual conference

In recent years, advancements in genetics and patient care have shed light on the critical roles of caregivers, communication, and education within the rare disease community. Three recent presentations at the National Society of Genetic Counselors (NSGC) 43rd annual conference highlighted key areas of focus for improving the experiences of caregivers, parents, and healthcare professionals alike. Elizabeth Sangiorgi’s study on the impact of resource guides for caregivers of children with rare diseases explored how these tools can foster empowerment, while Michelle Nguyen examined communication challenges during the often frustrating diagnostic odyssey faced by families with undiagnosed conditions. Finally, Ofir Fueur delved into the integration of AI and machine learning into genetic counseling education, identifying both opportunities and hurdles in preparing future counselors for a tech-driven era. These presentations underscore the growing importance of comprehensive support, effective communication, and cutting-edge education in the field of rare diseases.

Empowerment Through Resource Guides for Caregivers
The first study—Assessing the impact of a resource guide on empowerment in parents and caregivers of children with rare disease—presented by Sangiorgi explored the effect of a resource guide on empowering parents and caregivers of children with rare diseases. While rare diseases are collectively common, individual conditions often present barriers in accessing care and information. This pilot study aimed to assess how a comprehensive resource guide could influence feelings of empowerment among caregivers. Using a pre- and post-survey design, including the Genomics Outcome Scale, the study found no statistically significant improvement in empowerment. However, average scores improved in some areas, suggesting that modifications to the guide or the use of alternative metrics might be beneficial for future research. Sangiorgi emphasized the importance of continued efforts to refine resources for both patients and healthcare professionals.

Communication Challenges in the Diagnostic Odyssey
Michelle Nguyen presented findings from a study on communication experiences during the rare disease diagnostic journey, specifically from the perspective of parents of children with undiagnosed conditions. The study, which involved interviews with 36 parents, revealed key insights into the positive and negative communication experiences families face. Successful communication was characterized by empathy, trust, and coordinated care, while poor communication often led to frustration, disengagement, or feelings of epistemic injustice, where parents’ knowledge was dismissed due to biases. Nguyen highlighted the importance of fostering proactive, transparent, and empathetic communication to help parents feel supported during this emotionally taxing process.

Integrating AI and Machine Learning into Genetic Counseling Education
Ofir Fueur’s presentation focused on the integration of artificial intelligence (AI) and machine learning (ML) into genetic counseling education. With AI and ML becoming increasingly relevant in genomics, this study examined the readiness of genetic counseling programs to incorporate these technologies into their curricula. Through interviews with program directors, 9 key themes were identified, including the need for resources, training, and expert guidance. The study pointed to both opportunities and challenges in ensuring that future genetic counselors are well-prepared to use AI/ML effectively in their practice. Fueur advocated for greater involvement from organizations and experts to support this educational transition.

Each of these presentations underscored the importance of continued advancements in genetic testing, communication, and education to improve outcomes for patients and caregivers facing rare diseases.

Reference
Sangiorgi E, et al. Assessing the impact of a resource guide on empowerment in parents and caregivers of children with rare diseases. Presented at: National Society of Genetic Counselors (NSGC) 43rd annual conference.

Nguyen M, et al. Communication Experiences during the Rare Disease Diagnostic Odyssey: Perspectives from Parents of Children with Undiagnosed Disease. Presented at: National Society of Genetic Counselors (NSGC) 43rd annual conference.

Fueur O, et al. Integrating Artificial Intelligence and Machine Learning into Genetic Counseling Education: Perspectives on Integration and Utilization from Genetic Counseling Programs. Presented at: National Society of Genetic Counselors (NSGC) 43rd annual conference.