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Evidence to Improve Care

Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies

Final Recommendation

  • The Quality business unit at Ontario Health, based on guidance from the Ontario Health Technology Advisory Committee, recommends publicly funding whole exome sequencing as a second-tier test (i.e., when chromosomal microarray testing results in no diagnosis) for people with unexplained developmental disabilities or multiple congenital anomalies

Read the final recommendation report



People with unexplained developmental disabilities or conditions from birth (known as congenital anomalies) might have many tests done over a period of years trying to find a diagnosis for their condition. A genetic diagnosis can help people and their families better understand their condition and help them connect with others who have the same condition.

Genome-wide sequencing, as whole-exome or whole-genome sequencing, can examine the entire genetic makeup of a person in a single test, capturing genetic information that other genetic tests can miss.

This health technology assessment looked at how effective and cost-effective both whole-exome and whole-genome sequencing are for people with unexplained developmental disabilities and other unexplained conditions from birth. It also looked at the budget impact of publicly funding these tests and at the experiences, preferences, and values of people, families, and clinicians supporting people with these conditions.

The assessment was conducted in collaboration with the Canadian Agency for Drugs and Technologies in Health (CADTH). CADTH completed two reports: a rapid review of the qualitative evidence of patient preferences and a technology review of the ethical considerations.

Read the full Health Technology Assessment report for more information.


Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment (PDF)
March 2020


Related Resources

Genome-Wide Sequencing for Unexplained Developmental Delays and Multiple Congenital Anomalies: A Rapid Qualitative Review (PDF)
May 2019

Genome-Wide Sequencing: Ethical Considerations (PDF)
September 2019


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The Ministry of Health is currently reviewing this recommendation.

The Ministry of Health has provided the following response: The Ministry has a standardized process in place to review health technology assessments and funding recommendations. This takes into consideration Ministry priorities, implementation options, the need for consultation with impacted stakeholders, and funding considerations.




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