2.2. Ethical compliance

The study was approved by the Research Ethics Board of the Research‐Institute of McGill University Health Centre.

Families were alerted about the Genome to Outcome study by clinicians in Child Development (developmental pediatricians, psychologists), Psychiatry (child and adolescent psychiatrists), and Genetic (genetic counselors and geneticists) clinics at a pediatric center (McGill University Health Center) and at a specialized mental health center (Douglas Mental Health University Institute), as well as by primary care providers (pediatricians and family doctors) in Community clinics. These clinicians were involved in the child's clinical care either through a diagnostic assessment that included information on genetic testing, or through pre‐test genetic counseling that followed the diagnosis of NDD made by another clinician. The majority of pre‐test genetic counseling was done by non‐genetic clinicians and there was no standardized approach to the pre‐test genetic counseling (i.e., each clinician relied on their own expertise and knowledge in deciding what information to provide). Interested families then spoke with a research assistant to learn more about the study. Families that remained interested met with the research assistant, who carried out informed consent and enrollment.

During the study visit, the “parent most knowledgeable” (PMK) about the child was introduced to a set of online questionnaires, some of which were completed during the visit and the remainder at home. Typically, the blood‐draw for the clinical genetic test (CMA) took place on the same day as the research study visit, but in some cases it took place before or after. In all cases, the questionnaires for the outcome measure (empowerment), for the family sociodemographic factors and for the health service factors (perception of family‐centeredness of care) were completed before the family was aware of the clinical genetic result. As part of the broader Genome to Outcome study, the proband and first‐degree family members also provided blood samples for research genetic testing.

For the purpose of the current study, data on empowerment was analyzed only from families whose child had no previous genetic testing, in order to capture the impact of undergoing clinical genetic testing for the first time (the inclusion criteria for the larger Genome to Outcome Study allowed for families with previous clinical genetic testing as long as no genetic condition had been diagnosed). A genetic result was available on average 10.9 weeks after the child's final diagnostic assessment visit. At this visit, the clinician typically discussed with the family the diagnosis of ASD/NDD and/or information on clinical genetic testing and determined if the family was interested in learning more about the research study. The sociodemographic data (Table ​(Table1)1) for the Genome to Outcome study cohort suggests that the participating families were representative of the general Montreal population, as compared to the 2016 Canadian Census (Statistics Canada, 2016).

Descriptive data for families enrolled in the Genome to Outcome cohort (n = 113)

Abbreviations: N, total Number; SD, standard deviation.