Hazar Haidar and Lise Lamothe
Research Institute of Public Health, University of Montreal, Montreal, Canada
Newborn screening (NBS) program is a public health program aiming at the detection of genetic and metabolic diseases in newborns in order to allow an early intervention and treatment preventing therefore death or disability associated to the screened diseases.
This task has depended on the introduction of NBS technologies such as tandem mass spectrometry (MS/MS) that screens simultaneously for multiple disorders based on a small amount of blood. Recently, a new advancement known by Whole Genome Sequencing (WGS) was introduced expanding thus the scope of conditions that may be detected through the complete genetic sequence of the newborn.
The implementation of these technologies however raises ethical, social and organizational implications. Among others, there are ethical issues related to the ‘therapeutic gap’ created when a disorder is detected before an effective treatment is available and therefore the communication of such information to the parents. Moreover, organisational and social implications are raised concerning cost and healthcare system resources.
In order to highlight these issues, we conducted semi-structured interviews with ten couples at Sainte-Justine Hospital in Montreal to evaluate parents’ knoweldge and degree of consent related to the NBS in Quebec as well as their opinions regarding WGS.
Our presentation will provide preliminary information for health professionals on the views and preferences of parents and also for researchers wishing to broaden the scope of this study in order to prepare the ground for a possible and appropriate implementation of NBS by WGS.