Genome-wide sequencing: ethical considerations

Duthie K, Mierzwinski-Urban M
Record ID 32018002237
English
Authors' objectives: 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.
Details
Project Status: Completed
URL for project: https://cadth.ca/genome-wide-sequencing-ethical-considerations
URL for protocol: https://cadth.ca/sites/default/files/hta-he/he0020-genonme-wide-sequencing-protocol.pdf
Year Published: 2019
URL for published report: https://cadth.ca/sites/default/files/hta-he/he0020-genome-wide-sequencing-ethical-considerations.pdf
URL for additional information: https://cadth.ca/genome-wide-sequencing-ethical-considerations
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Canada
MeSH Terms
  • Whole Genome Sequencing
  • Genetic Testing
  • Ethics
  • Developmental Disabilities
  • Patient Participation
  • Congenital Abnormalities
Keywords
  • Genome-wide sequencing
  • Ethics
  • Genetic testing
  • Developmental delays
  • Early detection
Contact
Organisation Name: Canadian Agency for Drugs and Technologies in Health
Contact Address: 600-865 Carling Avenue, Ottawa, ON K1S 5S8 Canada. Tel: +1 613 226 2553; Fax: +1 613 226 5392;
Contact Name: requests@cadth.ca
Contact Email: requests@cadth.ca
Copyright: <p>Canadian Agency for Drugs and Technologies in Health (CADTH)</p>
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.