The identified genetic causes of inherited retinal diseases (IRDs) have increased significantly in recent years. Many IRD patients endure long diagnostic odysseys, receiving several negative or inconclusive genetic tests before arriving at a diagnosis. When selecting a test for your patients, it is crucial to consider both the scope of the panel as well as the inclusion of known disease-causing intronic variants and hypomorphic alleles.
In this webinar, presented by Clinical Genetic Counselor Kelsey Zegar, MS, CGC, from InformedDNA and Blueprint Genetics Clinical Liaison Kim Gall, MSc, CGC, we will review the genetic diagnostic and counseling implications of ABCA4-related disease with a focus on the ABCA4 c.5603C>T, p.(Asn1868Ile) hypomorphic allele. This variant is challenging but relevant in the molecular diagnosis of retinal diseases such as Stargardt disease and cone-rod dystrophies.
- Review ABCA4-related disease, including its phenotypes and disease-causing variants
- Discuss the evidence supporting ABCA4 5603C>T (p.Asn1868Ile) as a hypomorphic allele
- Provide insight into what clinicians should consider when assessing the quality of a genetic test and a laboratory’s interpretation
- Review ABCA4-related patient cases, discuss clinical implications and considerations for counseling patients and families
Kim Gall, MSc, CGC, received a Bachelor of Science with Honours in Human Genetics from the University of Western Ontario and a Masters of Science in Genetic Counselling from the University of British Columbia. She is certified by the American Board of Genetic Counselors. Kim worked in a variety of clinical and laboratory settings across Canada before accepting a position as Clinical Liaison at Blueprint Genetics in 2017.
Kelsey Zegar, MS, CGC, received a Master of Science in Genetic Counseling from the University of Colorado-Denver, and earned certification from the American Board of Genetic Counseling. Ms Zegar held the faculty position of Instructor with the University of Colorado School of Medicine and practiced genetic counseling in the Genetics clinic at Children's Hospital Colorado. She was integral in the expansion of the Ocular Genetics specialty clinic at Children's Hospital, to serve both pediatric and adult patients with inherited retinal diseases and developmental eye disorders. Ms Zegar joined the Ocular Disease program at InformedDNA in 2017, and currently provides telephone genetic counseling to patients with inherited retinal diseases and other rare genetic conditions.