Advances in whole exome sequencing have given pediatric rheumatologists a new tool for addressing pediatric autoimmune and autoinflammatory disorders. This technology can identify genetic defects underlying conditions that could lead to individualized therapy.
Clinicians looking to incorporate this strategy into their practices should attend Advances in Clinical Care through Whole Exome Sequencing. The session will take place from 11:00 am – 12:00 pm Tuesday in room 207B.
Experts will review scenarios when whole exome sequencing may be useful in patient care, demonstrate how whole exome sequencing works and how to interpret the results, and discuss how whole exome sequencing may influence individualized care of patients with autoimmune or autoinflammatory disorders.
During the session, Jordan S. Orange, MD, PhD, Professor in the Department of Pediatrics at Baylor College of Medicine, Houston, TX, will present the State-of-the-Art Lecture “Unbiased Genomic Approach to Pediatric Autoimmune and Autoinflammatory Patients.”
“The past few years have seen tremendous advances brought to our practices by clinically available unbiased DNA sequencing approaches,” Dr. Orange said. “These changes and what they hold for our patients are important to consider. It is also important to understand how to navigate the options and applicability of available approaches.”
His research has focused on the fundamental cell biology of intercellular immune interactions, novel causes of immune diseases, and mechanistic insights gained from primary immunodeficiency. He has participated in gene discovery efforts and has contributed to the identification and understanding of a number novel genetic immune diseases, including “Copa Syndrome,” which was recognized with the Lee Howley Sr. Prize from the Arthritis Foundation.
Dr. Orange, also Chief of Immunology, Allergy, and Rheumatology and Director of the Center for Human Immunobiology at Texas Children’s Hospital, said exome sequencing has evolved to the point where it can answer multiple questions efficiently and simultaneously. While some diseases represent a strong impact of a single aberrant gene, others are likely to represent a combination of conditions. Exome sequencing addresses both.
Exome sequencing also provides an economy when considering multiple possible genetic expeditions for a condition and avoids the need for sequential testing of individual genes, he said.
“Genomic diagnostic approaches are here to stay, so it is a good time to revisit how to integrate them into clinical practice,” he said.
Dr. Orange will review several practical takeaways for practicing rheumatologists, including important things to remember when using exome sequencing. For example, exome sequencing becomes more diagnostically powerful when trio analyses — inclusion of parents — are performed. In addition, he said, there is a value proposition in using high-quality exome sequencing once one gets past a certain number of individual gene tests.
As he discusses the practical implications of exome sequencing, Dr. Orange will also review the data regarding the diagnostic yield of unbiased exome sequencing in a variety of immunological and autoimmune disorders.
“Overall, there is about a 40 percent diagnostic yield when the category is taken as a whole,” he said. “There is also the opportunity for discovery and identification of novel diseases.”
CLINICAL SCIENCE TRACK
Advances in Clinical Care through Whole Exome Sequencing
11:00 am – 12:00 pm Tuesday