Grant: Operating Grant

Most birth defects and developmental disabilities are caused, at least in part, by genetic factors. However, many different genetic causes might be involved in any particular child, and a definite genetic cause is currently identified in only about 1/3 of such children. Without this knowledge, specific therapy is not available, associated complications cannot be prevented, advice about the future course of the condition cannot be offered, precise genetic counselling cannot be provided, and many expensive investigations may be performed in an attempt to identify a specific cause of the child's problems. Over the last few years, genome-wide sequencing has been shown to be a robust method of identifying disease-causing mutations, but genome-wide sequencing may also produce information that creates problems or raises additional concerns for the affected child and family. Genetic counselling is, therefore, necessary before clinical genome-wide sequencing is performed, but this counselling is often complex and time-consuming. Providing it may substantially increase the cost of clinical genome-wide sequencing. We have developed an online counselling aid for clinical genome-wide sequencing. We hypothesize that this tool, which we call "DECIDE" (Decision aid and E-Counselling for Inherited Disorder Evaluation) will make genetic counselling more effective and less expensive. We will test this idea through a randomized controlled trial of genetic counselling with or without DECIDE. The enormous diagnostic advantages of clinical whole genome sequencing cannot be realized without concurrent improvements in how we provide genetic counselling. DECIDE could improve our ability to inform and help families to make difficult decisions that are right for them, thereby facilitating the translation of genome-wide sequencing into routine medical care.