Hearing loss may develop at any age and can be caused by a wide variety of genetic and environmental factors. For clinicians, it can be challenging to know when to order genetic testing and what should be included in the test.
Important considerations include the type of panel, ensuring the most clinically relevant genes are included with the appropriate technologies, and that there is adequate coverage of the genes being sequenced. Identifying the molecular cause of hearing loss can help guide medical management, with either targeted therapies or surveillance for co-morbidities in addition to identifying other family members at risk.
In this educational webinar, Senior Manager of Genomic Services, Kim Gall, MSc, CGC, will review molecular causes of hearing loss and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the difficult-to-sequence STRC gene.
- Review common clinical characteristics and molecular causes of hearing loss
- Describe genetic testing options and testing considerations for clinicians
- Provide insight into the diagnostic yield, most common genes contributing to diagnostic findings, and distribution of variant types reported in a group of individuals receiving panel testing for hearing loss
- Review case examples to discuss clinical implications and considerations
Kim Gall, MSc, CGC, is Senior Manager of Genomic Services at Blueprint Genetics. She received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Master of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Ms. Gall worked in a variety of clinical and laboratory settings across Canada before accepting a position as clinical liaison at Blueprint Genetics in 2017.
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