Send us a text

Dr. Katherine P Callahan, neonatologist and bioethicist at Children's Hospital of Philadelphia, discusses the complexity of genetic testing in neonatal care. While the NICU serves as a launch point for genetic technologies due to high prevalence of genetic disease, genetic information is often ambiguous or uncertain rather than straightforwardly diagnostic. Variants of uncertain significance represent just one challenge—even clearly pathogenic findings may have unclear implications for individual patients, as demonstrated when parents carry the same mutation as their severely affected child. Callahan emphasizes that genetic information poses "informational hazards" requiring careful consideration of psychological and ethical impacts. She advocates for acknowledging complexity, rethinking outcomes beyond traditional measures, and embracing shared decision-making rather than standardized approaches to genomic counseling.

Support the show

As always, feel free to send us questions, comments, or suggestions to our email: [email protected]. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below.

Enjoy!