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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 challengeāeven 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.
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