PP1128 - Why Genetics Now? Leveraging Insights into DNA to Improve Patient Outcomes

Abstract:
The emergence of successful genetic therapy techniques (Lv et al., 2024) underscores the increasing need for audiologists to have a fundamental knowledge of genetic principles, but a recent survey indicates that most do not feel adequately equipped (Peter et al., 2019). This presentation will address the power of genetic knowledge for overall patient health, and provide an overview of genetic consultations, counseling, testing, insurance coverage, healthcare literacy, and ethical considerations. The presentation will include perspectives by audiologists, genetic counselors, geneticists, researchers, patients, and family members on the frontiers of research and clinical practice.

Summary:
Effective gene therapy is quickly moving from utopia to reality. Lv et al. (2024) were successfully able to restore at least some hearing in 5 patients with the otoferlin gene mutation, and other exciting breakthroughs are on the horizon. Audiologists need to be equipped with a fundamental understanding of genetic principles when providing care in this emerging landscape. They will require the clinical decision-making skills to identify patients who could benefit from genetic counseling and make appropriate referrals. Despite this, a survey of 233 audiologists indicated that most did not feel they have the requisite knowledge to do so (Peter et al., 2019). This presentation will explore several key areas of genetic knowledge that are most critical for audiologists working in various areas of practice.

Genetics professionals participate in interprofessional teams that provide care to patients with hearing loss. Genetic counselors conduct a detailed analysis of patient risk, guide patients and families through the implications of whether or not to pursue genetic testing, and provide interpretation of results. They also can help patients and families navigate the complicated insurance landscape and the legal and ethical framework for protection against discrimination based on genetic risk. At the same time, knowing the genetic cause of their hearing loss empowers patients and families. Patients can benefit from receiving prognostic information of their hearing loss, potential medical implications based on the causal gene, and proactive interventions for family members who carry the genetic variant but do not yet manifest the hearing loss. Clinical management informed by genetic knowledge gains precision in that it may direct courses of treatment to pursue or avoid, and can indicate if evaluation of other organ systems is warranted. When audiologists are preparing to navigate discussions with patients, they need to be able to do so in a way that will be appropriate for the varied healthcare literacy levels of their patients.

Current American Speech-Language-Hearing Association (ASHA) certification standards have one statement about genetics. Likewise, Council on Academic Accreditation (CAA) requirements for Doctor of Audiology program accreditation has a pair of bullet points within foundations of practice covering the role of genetics in auditory/vestibular disorders. ACAE expands to understanding both this as well as more details about genetic principles of inheritance. With at least the CFCC and CAA standards undergoing revision following the completion of the ASHA/ETS Curriculum and Practice Analysis study (CAPA) study, the time is ideal for ensuring that our standards of the future match the emerging audiologic genetic landscape. Knowledge of genetic influences on the hearing and vestibular systems is a constantly evolving field with potential implications for clinical management increase as well. It follows that a solid foundation in basic and clinical genetics can substantially enhance audiologists’ scope and effectiveness of practice.

Brief Summary of Clinical Takeaways:
The clinical takeaway of this session is for audiologists to better understand the landscape of genetic healthcare, its relevance to hearing healthcare, and the relationship with advances in genetic treatments for hearing loss. Audiologists will better understand the importance of genetic evaluation services to best serve their patients and families.