IMPLEMENTATION OF CLINICAL EXOMES IN A PRE- AND PERI-NATAL SETTING

Rare genetic disorders affect approximately 500,000 children in Canada and constitute 30% of the pediatric inpatient population. These children often undergo lengthy and expensive diagnostic procedures and may be subject to uninformed care while waiting for a correct diagnosis. The introduction of genome wide sequencing as a diagnostic tool has been shown to be effective, with a diagnostic yield of 30-40% for patients with undiagnosed genetic disorders. Adoption into clinical practice has been slow, however, due to insufficient evidence surrounding cost savings, inconsistent description of patient phenotypic data, insufficient integration of clinical and laboratory systems, data sharing difficulties and concerns among patients about potentially significant incidental findings. The project aims to develop and assess the clinical utility and cost effectiveness of the implementation of genome wide sequencing for clinical exomes in order to begin to adopt this testing as standard of care for pediatric and prenatal populations in Atlantic Canada.