Influence of Genetic Information on Neonatologists’ Decisions

Katharine Press Callahan, MD, is a neonatology fellow at Children’s Hospital of Philadelphia. Her research focuses on how neonatologists use genetic information to make medical decisions and conceptualize patients’ futures. This work emerges at the intersection of her training as a neonatologist and ethicist and longstanding interest in the integration of genetic information into complex medical practice. During medical school, she completed projects to integrate genetics into child psychiatry and medical school education. In residency, she began to explore the limitations of genetic prognostication through the lens of Down syndrome, partnered with Rachel Adams, parent of a child with Down syndrome. Through her neonatology training, she has witnessed firsthand both the benefits and potential confusion and harms that can result from genetic testing in this context. The work she will present empirically demonstrates the risks of inadequately supported genetic testing for neonates. Under the mentorship of Chris Feudtner, she conducted a split sample psychological experiment demonstrating that neonatologists applied genetic findings, including uncertain genetic findings or those heralding neurodevelopmental impairment, in biased and problematic ways. During fellowship, she has completed several other projects relevant to the ethics and implications of genetic testing in neonates: (1) a mixed methods national survey revealing that neonatologists need more support in using genetic tests and counseling families about results (2) a scoping review of how we define utility of genomic medicine for neonates and (3) an analysis inter-hospital variation in genetic testing using the PHIS database. She is currently preparing a K proposal focused on how neonatologists manage the uncertainty of genetic information.

Learning Objectives:

  1. Explain the importance of genetic information in the NICU
  2. List potential pitfalls that may lead neonatologists to misapply genetic information
  3. Contrast the strengths and limitations of a randomized, controlled psychological experiment

Speaker:

  • Katharine Press Callahan, MD

This seminar was delivered as a Pediatric Grand Rounds Lecture at Children’s Hospital of Philadelphia, on May 25, 2022.

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