Next Generation Sequencing (NGS) is a technique typically used to diagnose the genetic cause of an individual’s condition using an Inherited RD panel of known genes. This is used to detect any IRD associated genes from the panel which may be present in an individual’s DNA sample.
However, when no specific gene is identified in a sample, the person cannot be given a confirmed genetic diagnosis and therefore the causative gene for their condition remains unresolved. Genetic testing is an important step in the diagnosis of an IRD as this information is often required for a patient to gain access to a clinical trial or approved therapies. Therefore, there is a need for more effective methods to provide genetic diagnosis to patients with IRDs.
In this study, the team clinically reassessed cases unresolved by initial NGS and used this to guide them towards the most suitable course of action to test for further genetic information and achieve a diagnosis. 56% of IRD patients who were further investigated received a genetic diagnosis with this new approach. With these additional confirmed diagnoses, the team successfully achieved a genetic diagnosis for a total of 92% of the IRD patient cohort tested.