AAPOS Genetic Task Force Workshop: Genetic Testing in Pediatric Ophthalmology, A Must or A Bust?
Arlene V. Drack, MD; Elias Traboulsi, MD; Virginia Utz, MD; Debra Costakos, MD; Arif O. Khan, MD
University of Iowa
Iowa City, IA
Purpose/Relevance: Recent molecular genetic advances mean pediatric ophthalmologists have an increasing responsibility to accurately identify, and either counsel or refer patients with genetic eye diseases. Understanding the role of genetic tests and their interpretation is complex.
Target Audience: Pediatric ophthalmologists, residents and fellows
Current Practice: Pediatric ophthalmologists have varying levels of experience with evaluating genetic eye disorders. Many worry that during a busy clinic there may be patients for whom specific tests or treatments are missed, while for others their confidence in management may not reflect the current standard of care.
Best Practice: Establishing pathways for coordination of care with a genetic eye disease specialist, a genetic counselor or a medical geneticist is vital. Understanding current testing technology’s benefits and limitations in relation to clinical phenotype helps to ensure correct diagnosis, counseling, and prompt referral for interventions such as treatment.
Expected Outcomes: (1) Clinicians will develop a systematic approach to the evaluation of major categories of genetic ocular disorders. (2) Clinicians will be able to devise pathways for creating comprehensive care. (3) Clinicians will have the opportunity to present complex cases for input from the task force.
Format: Case-based presentations that focus on algorithms for specific categories of genetic eye disorders, for example, is it a must, or a bust, to refer patients for genetic evaluation if they have coloboma? Nystagmus with poor vision? Early onset cataract?
Summary: In a rapidly changing field, physicians must have algorithms to follow to feel confident they are providing the best care for patients with disorders such as nystagmus, congenital blindness, cataracts and anterior segment dysgenesis.
References: Drack AV, Johnston R, Stone EM. Which Leber congenital amaurosis patients are eligible for gene therapy trials? J AAPOS. 2009; 13(5):463-465.