Accounting for ancestral diversity is essential in medical genomics. For this reason, inclusion
of Indigenous and other under-represented populations in genomic research is necessary to …

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior
knowledge of genomic variation, including DNA variants that cause disease. The …

Background Founder populations that have recently undergone important genetic
bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic …

Methods Data for the pilot was sourced from the Australian Genomics' Genomic Data
Repository, with 1 case selected based on the eligibility criteria for the first genomic test …

TO THE EDITOR: The continuing integration of genetic technologies into clinical medicine is
providing opportunities for health care improvement. This has the potential to reduce health …

Advances in our understanding of genetic and rare diseases are changing the face of
healthcare. Crucially, the global community must implement these advances equitably to …

Rare diseases (RD) are typically complex, chronic, often multisystem, and frequently genetic
disorders associated with significant morbidity and mortality. They affect up to 6–8% of the …

Globally, there is a recognised need that all populations should be able to access the
benefits of genomics and precision medicine. However, achieving this remains constrained …

The question of who benefits from publicly funded genomics is also important. One of the
basic principles of public health is equity–health for all, not just those who are relatively well …

Purpose and scope The aim of this Position Statement is to provide recommendations for
Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other …