This Genome-Wide Sequencing: Ethical Considerations Technology Review was conducted by CADTH in collaboration with Health Quality Ontario (HQO), together with a supporting rapid review of the qualitative evidence of patient preferences. Read the full HQO Health Technology Assessment project for more information.
Unexplained developmental disabilities and multiple congenital anomalies describes a set of overlapping symptoms attributed to several conditions, including global developmental delay and intellectual disability. Early detection in children is critical to ensure timely access to appropriate care. However, due to complex presentation and multifactorial etiology, diagnostic challenges are common. Genome-wide sequencing (whole exome and genome sequencing) involves broad evaluation and detection of genetic variants. This technology may play a role when conditions with potential underlying genetic causes are difficult to diagnose with traditional approaches.
CADTH, in collaboration with Health Quality Ontario, conducted a Health Technology Assessment project on the use of genome-wide sequencing for patients with unexplained developmental disabilities and multiple congenital anomalies. Health Quality Ontario completed a systematic review of clinical evidence, an economic evaluation, and direct patient engagement for patient preferences and values. CADTH conducted a review of qualitative literature on patient perspectives and experiences, and a review of ethical issues.