Research In Practice Blog
In a recent JAMA Network Open Research Letter, researchers from Children’s Hospital of Philadelphia (CHOP), Clinical Futures, the Perelman School of Medicine at the University of Pennsylvania, and Cohen Children’s Hospital emphasize the need for increased evaluation of family-centered utility concerning neonatal genomic testing. Their survey study revealed that parents’ perspectives on the utility of this testing differ from those of intensivists. This research is crucial for understanding the value of rapid genomic testing for critically ill infants, as previous assessments may have been limited by indirect metrics and the omission of parental viewpoints. Katharine Press Callahan, MD, MSME, the corresponding author from Clinical Futures, collaborated with colleagues including Clinical Futures Core Faculty member Chris Feudtner, MD, PhD, MPH, who is a core faculty member.
Study Design and Findings
Questionnaires were collected from 143 parents and 71 intensivists regarding 154 infants who underwent a large, rapid genome-based panel used at CHOP as the first-line genetic test for critically ill infants. The findings indicated that both groups found rapid genetic testing to be useful, primarily for informing prognosis and providing reassurance. Overall, both intensivists and parents agreed that the genetic results benefited the patients. Among those surveyed, 82% of intensivists and 97% of parents reported that the testing led to specific positive outcomes. The most common benefits included increased confidence that nothing was being overlooked and a clearer prognosis.
Intensivists frequently stated that the testing was valuable for families; however, an intensivist who selected this outcome was associated with a higher report of benefits from parents. Despite this, intensivists did not anticipate a reduction in morbidity, mortality, or length of hospital stay. They reported greater overall benefits when the results were diagnostic compared to nondiagnostic results, while parents reported less perceived benefit in these cases.
Regarding negative outcomes, 29% of parents reported experiencing at least one negative effect, including feelings of confusion about the future, increased guilt, difficulty feeling hopeful, confusion regarding decisions, concerns about unnecessary testing, challenges in bonding with the infant, or other issues.
Clinical Implications
The survey results indicate that rapid genomic testing primarily offers meaningful clinical benefits through enhanced prognostic clarity and reassurance, rather than through measurable changes in morbidity, mortality, or length of hospital stay. Findings also reveal that the importance of family-centered utility has been insufficiently addressed in the literature. For intensivists, if the focus is on providing information that families find valuable, family-centered utility should be prioritized as a key benefit rather than viewed as a secondary one.
“These findings may help researchers achieve a more comprehensive and accurate evaluation of the value of rapid genomic testing. Further research should explore how counseling practices, sociodemographic factors, and the timing of testing affect the perceptions of both parents and clinicians,” said Dr. Callahan.
Clinical Futures author(s): Katharine Press Callahan, MD, MSME, and Chris Feudtner, MD, PhD, MPH