30167
Parents’ Perceived Utility of Biological Testing Prior to Clinical Genetic Testing Is Associated with Child Emotional and Behavioural Functioning, Family Functioning, and Family-Centered Care
Chromosomal microarray (CMA) testing has been integrated into routine clinical workup in Autism Spectrum Disorder (ASD) based on improved diagnostic yields. However, its clinical utility is unclear considering that results have not led to improvements of health outcomes for all. Establishing the clinical utility of CMA would thus require evaluating the value of information expected from the test as perceived by individuals receiving the test and their families.
Evidence provides a mixed picture of parents’ perspectives on genetic testing in ASD, with indications that perceived utility prior to testing and experienced impact following results to be distinct constructs. Given the heterogeneous nature of the target population, the inconsistency of findings can also be attributed to underpowered studies with issues in sampling. Most importantly, a valid measure of perceived utility and its predictors are missing.
Objectives:
We aimed to examine the association between the parents’ perceived utility of biological testing and its potential predictors: child’s severity of symptoms and functioning, parent stress, family functioning, and appraisal of family-centered care, while controlling for sociodemographic factors within a representative sample of families around the time of their child’s diagnosis using a new quantitative measure of perceived utility.
Methods:
Families were invited to participate in an ongoing prospective cohort, ASD Genome to Outcome, following their child’s diagnosis. Prior to undergoing clinical genetic testing, families completed the Perceived Utility of Biotesting questionnaire along with self-reported measures (n = 75).
Results:
We entered the following as predictors of interest in a stepwise regression model predicting perceived utility: respondent age, education, household income, child gender and age, child severity of social symptoms, child emotional and behavioural problems, parent stress, family functioning problems, and family-centered care. The best-fitting model accounts for 25% of the variance in perceived utility of biotesting, F(3, 68) = 8.95, p <0.001, R2-adjusted = 0.25. Lower child emotional and behavioral functioning, higher family functioning, and lower levels of family-centered care significantly predict greater perceived utility. No other factors were associated with perceived utility.
Conclusions:
Our results suggest that perceived utility of biotesting is determined by families’ unmet needs: families who have a child with more emotional and behavioural problems, and who are receiving lower levels of family-centered care, may be more likely to expect testing to address these needs. By identifying how characteristics of each child, family, and their reported experience with routine health services affect the perceived clinical utility of genetic testing, we demonstrated how the current and future potential of genetic testing in particular and biological testing in general can be systematically assessed in the context of routine care pathways. We conclude that establishing the clinical utility of biotesting requires family input, not only to improve the impact of current biological tests but also to determine the readiness of potential biological tests for clinical use. This would allow for engagement of families in biotesting development and implementation, and subsequently towards improving the relevance and impact of research and care for families.