609 - Parent- and Clinician-Reported Utility for Neonatal Genomic Testing

Publication Number: 4596.609

Katharine P. Callahan, Children's Hospital of Philadelphia, Haddonfield, NJ, United States; K. Taylor Wild, Children’s Hospital of Philadelphia, Philadelphia, PA, United States; Alexandra Heck, Childrens Hospital of Philadelphia, Philadelphia, PA, United States; Laura Conlin, Children's Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States; Matthew Dulik, The Children's Hospital of Philadelphia, Philadelphia, PA, United States; David Munson, Perelman School of Medicine at the University of Pennsylvania, Wynnewood, PA, United States; Chris Feudtner, Children's Hospital of Philadelphia, Philadelpia, PA, United States; Sara Reichert, Childrens Hospital of Philadelphia, Philadelphia, PA, United States; Natalie Burrill, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Ian Krantz, Cohen Children's Medical Center, Great Neck, NY, United States; Nancy B. Spinner, The Children's Hospital of Philadelphia, Philadelphia, PA, United States

Background: Our understanding of how genetic testing impacts clinical outcomes for critically ill neonates has been limited by indirect and incomplete utility metrics.

Objective: To evaluate the utility of rapid genomic testing in critically ill neonates using more comprehensive, parent- and clinician-completed assessments that correct for prior shortcomings.

Design/Methods: We distributed a questionnaire to parents and intensivists who had recently received results from a large genome-based panel, our hospital's first-line genetic test for critically ill infants. We designed the questionnaire to expand on prior utility metrics by incorporating the perspective of parents and assessing disutility, or harms. Further, we aimed to capture the final impact of genetic information and the magnitude of anticipated benefit rather than limiting assessment to process measures, such as changes in management. We analyzed results to determine the proportion of patients who experienced positive and negative impacts of genetic testing, and the specific types of impacts they experienced. We compared utility for patients who had received pathogenic and non-diagnostic results.

Results: We collected questionnaires from 143 parents and 71 clinicians regarding 154 children (Table 1). Rapid genetic testing had a positive impact on most patients, 81% of patients by clinician report (Figure 1) and 97% by parent report (Figure 2). For both respondent groups, confidence that one was not missing anything and a clearer prognosis were reported frequently. Clinicians reported changes in management for 44% of patients but these correlated poorly with anticipated ultimate benefit from testing. Clinicians did not report an expected decrease in morbidity or mortality or length of stay for any patients. The testing had negative impacts for a smaller but substantial portion of patients: 29% by parent report and 13% by clinician report. Both respondent groups reported that parental distress and confusion most frequently. If results were diagnostic, as compared to non-diagnostic, clinicians reported more positive impacts, but parents reported fewer.

Conclusion(s): Both clinicians and parents find rapid genomic testing for critically ill infants to be useful. In contrast to assumptions in the literature, genetic testing is rarely expected to impact acute morbidity or mortality for critically ill infants but often benefits patients by informing prognosis and providing reassurance. Accurate and complete utility data are essential in maximizing the gains from this complex technology.

Table 1. Characteristics of Cohort


Figure 1. Clinician Reports of Changes in Management and Positive and Negative Impacts
Bars represent the percentage of respondents reporting each type of CoM (blue), positive effect (green), or negative effect (red).

Figure 2. Parent Reports Positive and Negative Impacts
Bars represent the percentage of respondents reporting positive effect (green) or negative effect (red