# Managing the Uncertainty of Genetic Information in Neonates

> **NIH NIH K01** · CHILDREN'S HOSP OF PHILADELPHIA · 2024 · $162,231

## Abstract

PROJECT SUMMARY/ABSTRACT
Training: The purpose of this K01 proposal is to prepare Dr. Katharine Press Callahan for a career as an
independent physician-scientist focused on the ethical and social implications of genetic testing for critically ill
neonates. Her long-term career objective is to conduct impactful research on the use of genetic testing for
neonates using both quantitative and qualitative methods. To this end, Dr. Callahan and her mentorship team
have devised a career development plan that integrates: (1) intensive mentorship from a team of mentors and
advisors with whom Dr. Callahan has a track record of successful collaboration, (2) advanced training in
genetic science and testing, qualitative methods, and medical simulation, and (3) an innovative research plan
designed to investigate how neonatologists and parents of neonates manage the uncertainty of genetic
information.
Research: Genetic testing is increasingly used in ill neonates and holds promise to improve care. However, in
practice, many genetic results contain substantial uncertainty, which can lead both clinicians and parents to
misunderstand or misapply results, resulting in biased treatment plans. Little is known about how uncertainty
affects neonatologists’ use and communication of genetic information or parents’ understanding of this
information in practice. Dr. Callahan’s mentored, mixed-methods research will fill the critical need to identify
and mediate potential risks that emerge as neonatologists and parents increasingly use uncertain genetic
results in practice. Aim 1 will identify the types of uncertainty that neonatologists and parents perceive when
they receive genetic results and examine how this uncertainty affects understanding and use of results. Aim 2
will assess the effect of uncertainty about prognosis on neonatologists’ counseling about genetic information
and potential disability. Aim 3 will develop and preliminary test an information management tool that aims to
improve understanding and standardize communication of genetic information and associated uncertainty
between geneticists, neonatologists, and parents.
Significance: Completing these aims within the context of a structured career development plan will prepare
Dr. Callahan to be an independent investigator poised to execute the NHGRI vision of integrating complex
genetic information into the clinical workflow in newborn medicine. Findings from this study will inform an R01
proposal to validate and disseminate the genetic information management tool developed in Aim 3.

## Key facts

- **NIH application ID:** 10888399
- **Project number:** 5K01HG013114-02
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Katharine Press Callahan
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $162,231
- **Award type:** 5
- **Project period:** 2023-07-14 → 2028-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10888399

## Citation

> US National Institutes of Health, RePORTER application 10888399, Managing the Uncertainty of Genetic Information in Neonates (5K01HG013114-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10888399. Licensed CC0.

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