Primary Ciliary Dyskinesia as a common cause of bronchiectasis in the
Canadian Inuit population
Abstract
with other laboratory and clinical investigations. Early and accurate
diagnosis of inherited conditions generally leads to better medical care
for patients and their families, with improved knowledge of the natural
history of the condition and early intervention. It is therefore
essential that equitable access to such testing is established for
indigenous and isolated populations, in order to further narrow the
health disparity gap. Although supported by funding from a few sources,
this study signals a success for the Silent Genomes Project, with one of
the cases having been identified by whole genome sequencing within that
project, after negative whole exome sequencing. Furthermore the study
has potential life-changing clinical consequences and provides starting
points for possible interventions for respiratory medicine in the Inuit
population. These include increased awareness of the possibility of PCD
in patients presenting with neonatal respiratory distress,
bronchiectasis or otitis media leading to early intervention; and in
conjunction with Inuit organizations and public health officials,
targeted analysis of the DNAH11 variant in the population with
the possible introduction of newborn screening for PCD.