Long-read sequencing as the future of clinical genetic testing

Abstract

Less than half of individuals with a suspected Mendelian or monogenic condition receive a precise molecular diagnosis after comprehensive clinical testing, including the use of short-read whole-genome sequencing. Long-read sequencing (LRS) represents a paradigm shift in the clinical testing workflow as it can capture nearly all disease-causing variations that can be evaluated by standard clinical testing today, in a fraction of the time required. This will increase the rate of genetic diagnosis, decrease the time to diagnosis, and reduce barriers to accessing comprehensive genetic testing. Widespread adoption of LRS in the clinical environment has been hampered by historical concerns about cost, error rate, and complex computational needs. In this talk, I will summarize recent advances in LRS and outline a path to the implementation of LRS in the outpatient, inpatient, and critical care settings.

Bio Danny Miller is an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine, and the Department of Laboratory Medicine and Pathology at the University of Washington. He is also an attending physician at Seattle Children’s Hospital. His laboratory is developing long-read sequencing-based clinical genetic tests with a goal of increasing the rate of genetic diagnoses, reducing the time required to make a genetic diagnosis, and lowering barriers to obtaining comprehensive clinical testing.