The Incubator #386 - 🟢 HOT TOPICS 2025 COVERAGE - How Should We Navigate the Complexity of Genetic Information in the NICU?
Dec 8, 2025
Dr. Katherine Callahan explores the intricate world of genetic testing in neonatal care, highlighting its complexities and ethical dilemmas. She discusses the common occurrence of ambiguous genetic results, emphasizing the dangers of relying on simplified narratives in precision medicine. Callahan describes how variants of uncertain significance can complicate decision-making, even when parents share mutations with their affected children. The conversation pushes for personalized consent and a shift towards understanding the broader impacts of genetic information.
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NICU As A Genomic Launch Point
- The NICU is a launch point for genetic technologies because many critically ill neonates have genetic etiologies and clinicians need prognostic info.
- Dr. Catherine Press-Callaghan argues genetic answers are often complex and influence care in non-linear ways.
Precision Medicine Narratives Are Oversimplified
- Public-facing precision medicine narratives portray genomics as neat diagnostic-to-treatment pipelines that improve outcomes.
- Dr. Catherine Press-Callaghan warns real genomic results more often give uncertain prognostic information than clear treatment paths.
VUSs And Pathogenicity Exist On A Spectrum
- Variants of uncertain significance (VUS) are not a single resolvable box and sit on a blurred spectrum with pathogenic labels.
- Even clearly pathogenic findings often lack precise individual prognostic meaning.