Katharine Callahan, MD, MSME, highlights the benefits of genomic testing

In this interview, Katharine P. Callahan, MD, MSME, attending physician at Children’s Hospital of Philadelphia, discusses the perceived disconnect between the high clinical value of rapid genomic testing in neonatal intensive care and the limited evidence showing improvements in traditional outcomes such as morbidity, mortality, or length of hospital stay. Drawing on her experience as a neonatologist, researcher, and ethicist, Callahan explains that this gap stems largely from how utility has historically been defined and measured in studies of genomic sequencing.

Callahan notes that while clinicians widely recognize the benefits of genetic testing in the NICU, these benefits are often not captured by conventional metrics. Prior research, including her own systematic review, has shown that studies frequently rely on “change in management” as a primary outcome. However, she argues that this measure may not reflect the true goals of genomic testing.

In many cases, the value of testing lies not in altering treatment or shortening hospitalization, but in providing diagnostic clarity, refining prognosis, and supporting decision-making for both clinicians and families. These forms of utility, though meaningful, are less easily quantified and therefore underrepresented in the literature.

The interview also highlights a mismatch between clinician and parent expectations. Callahan emphasizes that parents may interpret nondiagnostic results as reassuring “good news,” when in reality, such results often represent uncertainty rather than the absence of disease. This misinterpretation underscores the need for more careful and nuanced communication. Clinicians must clarify that a negative or inconclusive test does not eliminate the risk of future complications, including developmental delays or other comorbidities.

Callahan further suggests that current evaluation frameworks are insufficient for capturing the full impact of genomic testing. While outcomes such as mortality reduction may be important for payers such as insurance companies, they do not encompass the broader benefits observed in practice.

She advocates for expanded frameworks that account for improvements in diagnostic confidence, prognostic insight, and family counseling. Although demonstrating value in these domains may be challenging, she argues that they represent legitimate and meaningful outcomes that health systems should recognize.

Addressing parental confusion, Callahan acknowledges the inherent difficulty of communicating complex and uncertain genetic information in the high-stress ICU environment. Even with optimized genetic counseling, some degree of confusion may be unavoidable given the emotional and cognitive burden on families during critical illness.

Looking ahead, Callahan suggests that rapid genomic testing is already becoming integrated into neonatal and pediatric critical care workflows. The key challenge now is to better evaluate its real-world impact.

She proposes shifting research focus toward assessing the accuracy and influence of prognostic information derived from genetic testing, as well as how it shapes clinical and parental decision-making. By aligning evaluation strategies with the actual functions of genomic testing, clinicians and researchers can more accurately capture its value in critical care settings.

No relevant disclosures.

Reference

Callahan KP, Wild KT, Heck A, et al. Parent- and intensivist-reported utility for neonatal genomic testing. JAMA Netw Open. 2026;9(4):e265689. doi:10.1001/jamanetworkopen.2026.5689